#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KATNAL2	83473	broad.mit.edu	37	18	44595947	44595947	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:44595947A>G	ENST00000245121.5	+	10	962	c.768A>G	c.(766-768)agA>agG	p.R256R	KATNAL2_ENST00000356157.7_Silent_p.R328R|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCAAATGGAGAGGGGATTCAG	0.373																																						ENST00000245121.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						c.(766-768)agA>agG		katanin p60 subunit A-like 2							83.0	79.0	81.0					18																	44595947		2203	4300	6503	SO:0001819	synonymous_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44595947A>G	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.768A>G	18.37:g.44595947A>G			Somatic				KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.R328R	p.R256R	NM_031303.2	NP_112593.2	WXS	Illumina GAIIx	Phase_I	Q8IYT4	KATL2_HUMAN			10	962	+			328						Silent	SNP	ENST00000245121.5	37	c.768A>G	CCDS32828.1																																																																																				0.373	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		6	514	0	0	0	1	0	6	514				
SLC45A4	57210	broad.mit.edu	37	8	142229761	142229761	+	Missense_Mutation	SNP	C	C	A	rs61995883		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:142229761C>A	ENST00000024061.3	-	3	752	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	SLC45A4_ENST00000517878.1_Missense_Mutation_p.A200S|SLC45A4_ENST00000519067.1_Missense_Mutation_p.A149S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A142S	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCAGAGAAGGCGTGGATGTTG	0.672																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(445-447)Gcc>Tcc		solute carrier family 45, member 4							75.0	49.0	58.0					8																	142229761		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142229761C>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.445G>T	8.37:g.142229761C>A	ENSP00000024061:p.Ala149Ser		Somatic				SLC45A4_ENST00000024061.3_Missense_Mutation_p.A149S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A142S|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A200S	p.A149S			WXS	Illumina GAIIx	Phase_I	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	748	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		200					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.445G>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019974	0.93462	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.49	5.49	0.81192	.	0.048298	0.85682	D	0.000000	D	0.94268	0.8159	N	0.25245	0.725	0.54753	D	0.999983	D;D;P	0.89917	1.0;1.0;0.83	D;D;D	0.97110	1.0;1.0;0.922	D	0.94622	0.7814	10	0.49607	T	0.09	-50.1503	19.368	0.94471	0.0:1.0:0.0:0.0	.	200;149;149	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	S	149;200;142;149;7	ENSP00000429059:A149S;ENSP00000428137:A200S;ENSP00000400799:A142S;ENSP00000024061:A149S;ENSP00000429033:A7S	ENSP00000024061:A149S	A	-	1	0	SLC45A4	142298943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.272000	0.78516	2.572000	0.86782	0.563000	0.77884	GCC		0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		3	37	1	0	0.150653	1	0.154618	3	37				
KCNN3	3782	broad.mit.edu	37	1	154705486	154705486	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:154705486C>T	ENST00000271915.4	-	4	1898	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D	KCNN3_ENST00000361147.4_Missense_Mutation_p.G223D|KCNN3_ENST00000358505.2_Missense_Mutation_p.G215D	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	533					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CACCATGATGCCAGTGAGGAG	0.532																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1582-1584)gGc>gAc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							128.0	100.0	109.0					1																	154705486		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154705486C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1583G>A	1.37:g.154705486C>T	ENSP00000271915:p.Gly528Asp		Somatic				KCNN3_ENST00000358505.2_Missense_Mutation_p.G215D|KCNN3_ENST00000361147.4_Missense_Mutation_p.G223D	p.G528D	NM_002249.5	NP_002240.3	WXS	Illumina GAIIx	Phase_I	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		4	1898	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		533					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1583G>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633544	0.87660	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.33216	1.42;1.42;1.42	4.67	4.67	0.58626	Ion transport 2 (1);	0.000000	0.53938	D	0.000052	T	0.55784	0.1942	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.65323	-0.6196	10	0.87932	D	0	-27.1237	17.3768	0.87394	0.0:1.0:0.0:0.0	.	533;223	Q9UGI6;Q9UGI6-2	KCNN3_HUMAN;.	D	223;528;215	ENSP00000354764:G223D;ENSP00000271915:G528D;ENSP00000351295:G215D	ENSP00000271915:G528D	G	-	2	0	KCNN3	152972110	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.651000	0.83577	2.433000	0.82419	0.655000	0.94253	GGC		0.532	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		4	306	0	0	0	1	0	4	306				
SLC32A1	140679	broad.mit.edu	37	20	37356833	37356833	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37356833T>C	ENST00000217420.1	+	2	1392	c.1129T>C	c.(1129-1131)Tcc>Ccc	p.S377P		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	377					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCCCGGCTCCATCCGCGC	0.617																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(1129-1131)Tcc>Ccc		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						76.0	74.0	75.0					20																	37356833		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356833T>C	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1129T>C	20.37:g.37356833T>C	ENSP00000217420:p.Ser377Pro		Somatic					p.S377P	NM_080552.2	NP_542119.1	WXS	Illumina GAIIx	Phase_I	Q9H598	VIAAT_HUMAN			2	1392	+		Myeloproliferative disorder(115;0.00878)	377					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1129T>C	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305722	0.23736	.	.	ENSG00000101438	ENST00000217420	T	0.02631	4.22	4.45	3.18	0.36537	.	0.231680	0.42964	D	0.000627	T	0.02304	0.0071	L	0.29908	0.895	0.46011	D	0.998818	B	0.06786	0.001	B	0.14023	0.01	T	0.51325	-0.8720	10	0.24483	T	0.36	-32.5042	6.5829	0.22605	0.3745:0.0:0.0:0.6255	.	377	Q9H598	VIAAT_HUMAN	P	377	ENSP00000217420:S377P	ENSP00000217420:S377P	S	+	1	0	SLC32A1	36790247	1.000000	0.71417	0.992000	0.48379	0.914000	0.54420	4.756000	0.62205	1.786000	0.52430	0.460000	0.39030	TCC		0.617	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		4	71	0	0	0	1	0	4	71				
DBR1	51163	broad.mit.edu	37	3	137880920	137880920	+	Silent	SNP	C	C	T	rs148562956	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:137880920C>T	ENST00000260803.4	-	8	1599	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	DBR1_ENST00000505015.2_Silent_p.T248T	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	482					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGGAATCCACCGTATCATCAG	0.473																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1444-1446)acG>acA		debranching RNA lariats 1		T		9,4397	15.5+/-35.6	0,9,2194	135.0	136.0	136.0		1446	-11.2	0.0	3	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	DBR1	NM_016216.3		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		482/545	137880920	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880920C>T	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1446G>A	3.37:g.137880920C>T			Somatic				DBR1_ENST00000505015.2_Silent_p.T248T	p.T482T	NM_016216.3	NP_057300.2	WXS	Illumina GAIIx	Phase_I	Q9UK59	DBR1_HUMAN			8	1599	-			482					Q96GH0|Q9NXQ6	Silent	SNP	ENST00000260803.4	37	c.1446G>A	CCDS33863.1																																																																																				0.473	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			14	1396	0	0	0	1	0	14	1396				
MAP4K1	11184	broad.mit.edu	37	19	39103366	39103366	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39103366C>T	ENST00000591517.1	-	9	578	c.550G>A	c.(550-552)Gca>Aca	p.A184T	MAP4K1_ENST00000586296.1_Missense_Mutation_p.A184T|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.A180T|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A184T|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCACAGCTGCCACTTCCGGA	0.612																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(550-552)Gca>Aca		mitogen-activated protein kinase kinase kinase kinase 1							48.0	53.0	51.0					19																	39103366		2128	4266	6394	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39103366C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.550G>A	19.37:g.39103366C>T	ENSP00000465039:p.Ala184Thr		Somatic				MAP4K1_ENST00000586296.1_Missense_Mutation_p.A184T|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A184T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.A180T|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR	p.A184T	NM_007181.4	NP_009112.1	WXS	Illumina GAIIx	Phase_I	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	578	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		184			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.550G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940218	0.92526	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.25414	1.8	4.21	4.21	0.49690	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.41442	0.1159	L	0.37561	1.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.40289	-0.9571	10	0.87932	D	0	.	15.3491	0.74368	0.0:1.0:0.0:0.0	.	184;184	Q92918-2;Q92918	.;M4K1_HUMAN	T	184	ENSP00000380066:A184T	ENSP00000221409:A184T	A	-	1	0	MAP4K1	43795206	1.000000	0.71417	0.985000	0.45067	0.970000	0.65996	7.423000	0.80229	1.893000	0.54813	0.462000	0.41574	GCA		0.612	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		4	238	0	0	0	1	0	4	238				
HUNK	30811	broad.mit.edu	37	21	33296949	33296949	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:33296949C>T	ENST00000270112.2	+	2	791	c.431C>T	c.(430-432)cCt>cTt	p.P144L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GAGCTGTGCCCTGGGGGCAAC	0.537																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(430-432)cCt>cTt		hormonally up-regulated Neu-associated kinase							76.0	77.0	76.0					21																	33296949		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296949C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.431C>T	21.37:g.33296949C>T	ENSP00000270112:p.Pro144Leu		Somatic					p.P144L	NM_014586.1	NP_055401.1	WXS	Illumina GAIIx	Phase_I	P57058	HUNK_HUMAN			2	791	+			144			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.431C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566143	0.65651	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.27104	1.69;1.69	4.73	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122362	0.56097	D	0.000031	T	0.32376	0.0827	M	0.65498	2.005	0.80722	D	1	B	0.25007	0.116	B	0.24006	0.05	T	0.24657	-1.0154	10	0.87932	D	0	-8.6624	17.9115	0.88936	0.0:1.0:0.0:0.0	.	144	P57058	HUNK_HUMAN	L	144;29	ENSP00000270112:P144L;ENSP00000411860:P29L	ENSP00000270112:P144L	P	+	2	0	HUNK	32218820	0.995000	0.38212	0.884000	0.34674	0.992000	0.81027	4.398000	0.59697	2.444000	0.82710	0.557000	0.71058	CCT		0.537	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		7	567	0	0	0	1	0	7	567				
IGF1R	3480	broad.mit.edu	37	15	99456415	99456415	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:99456415G>A	ENST00000268035.6	+	8	2343	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	IGF1R_ENST00000558762.1_Missense_Mutation_p.A578T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	578	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.A578T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GACTCAGTACGCCGTTTACGT	0.567																																						ENST00000268035.6																			1	Substitution - Missense(1)	p.A578T(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1732-1734)Gcc>Acc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						142.0	99.0	113.0					15																	99456415		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456415G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1732G>A	15.37:g.99456415G>A	ENSP00000268035:p.Ala578Thr		Somatic				IGF1R_ENST00000558762.1_Missense_Mutation_p.A578T	p.A578T	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		8	2343	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		578			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1732G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568978	0.96540	.	.	ENSG00000140443	ENST00000268035	T	0.70045	-0.45	4.73	4.73	0.59995	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	D	0.85344	0.5675	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.88536	0.3106	10	0.87932	D	0	.	18.2545	0.90015	0.0:0.0:1.0:0.0	.	578;578	C9J5X1;P08069	.;IGF1R_HUMAN	T	578	ENSP00000268035:A578T	ENSP00000268035:A578T	A	+	1	0	IGF1R	97273938	1.000000	0.71417	0.196000	0.23383	0.967000	0.64934	9.580000	0.98207	2.614000	0.88457	0.563000	0.77884	GCC		0.567	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		20	2927	0	0	0	1	0	20	2927				
NDC80	10403	broad.mit.edu	37	18	2610835	2610835	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:2610835T>A	ENST00000261597.4	+	16	1948	c.1766T>A	c.(1765-1767)gTt>gAt	p.V589D		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	589	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTAGAGATGGTTGCTACACAT	0.373																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(1765-1767)gTt>gAt		NDC80 kinetochore complex component							168.0	148.0	155.0					18																	2610835		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2610835T>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1766T>A	18.37:g.2610835T>A	ENSP00000261597:p.Val589Asp		Somatic					p.V589D	NM_006101.2	NP_006092.1	WXS	Illumina GAIIx	Phase_I	O14777	NDC80_HUMAN			16	1948	+			589			Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1766T>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725254	0.68959	.	.	ENSG00000080986	ENST00000261597	T	0.59906	0.23	5.43	4.26	0.50523	.	0.229266	0.44902	D	0.000411	T	0.60945	0.2308	L	0.54323	1.7	0.58432	D	0.999997	D	0.61080	0.989	P	0.52159	0.691	T	0.62124	-0.6920	10	0.59425	D	0.04	-14.1146	10.469	0.44624	0.0:0.0784:0.0:0.9216	.	589	O14777	NDC80_HUMAN	D	589	ENSP00000261597:V589D	ENSP00000261597:V589D	V	+	2	0	NDC80	2600835	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.860000	0.62961	0.890000	0.36211	-0.297000	0.09499	GTT		0.373	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		7	442	0	0	0	1	0	7	442				
SLC27A6	28965	broad.mit.edu	37	5	128301933	128301933	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:128301933T>A	ENST00000262462.4	+	1	1113	c.103T>A	c.(103-105)Ttg>Atg	p.L35M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L35M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L35M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	35					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTGGTTCGTGTTGAAGGTGGT	0.468																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(103-105)Ttg>Atg		solute carrier family 27 (fatty acid transporter), member 6							114.0	113.0	113.0					5																	128301933		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128301933T>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.103T>A	5.37:g.128301933T>A	ENSP00000262462:p.Leu35Met		Somatic				SLC27A6_ENST00000395266.1_Missense_Mutation_p.L35M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L35M	p.L35M			WXS	Illumina GAIIx	Phase_I	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1113	+		all_cancers(142;0.0483)|Prostate(80;0.055)	35					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.103T>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	2.679	-0.275811	0.05679	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.55413	0.52;0.52;0.52	4.44	0.66	0.17868	.	0.462702	0.23096	N	0.051967	T	0.42539	0.1207	M	0.63428	1.95	0.24770	N	0.99288	B	0.22683	0.073	B	0.25405	0.06	T	0.40365	-0.9567	10	0.54805	T	0.06	-14.1415	2.1173	0.03717	0.1258:0.4813:0.1236:0.2694	.	35	Q9Y2P4	S27A6_HUMAN	M	35	ENSP00000262462:L35M;ENSP00000378684:L35M;ENSP00000421024:L35M	ENSP00000262462:L35M	L	+	1	2	SLC27A6	128329832	0.066000	0.20996	0.426000	0.26672	0.000000	0.00434	-0.287000	0.08388	-0.090000	0.12462	-2.891000	0.00095	TTG		0.468	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		19	2490	0	0	0	1	0	19	2490				
PTOV1	53635	broad.mit.edu	37	19	50360380	50360380	+	Missense_Mutation	SNP	G	G	A	rs373434144		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50360380G>A	ENST00000601675.1	+	6	811	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PTOV1_ENST00000221557.9_Missense_Mutation_p.R204H|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Missense_Mutation_p.R204H|AC018766.6_ENST00000601211.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.R236H|PTOV1_ENST00000391842.1_Missense_Mutation_p.R236H|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.R204H|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	236	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ATCACCACCCGCAAGCAGGTG	0.617																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(706-708)cGc>cAc		prostate tumor overexpressed 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	126.0	129.0		707	3.8	1.0	19		129	0,8600		0,0,4300	no	missense	PTOV1	NM_017432.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	236/417	50360380	1,13005	2203	4300	6503	SO:0001583	missense	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50360380G>A	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.707G>A	19.37:g.50360380G>A	ENSP00000472816:p.Arg236His		Somatic				AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601675.1_Missense_Mutation_p.R236H|PTOV1_ENST00000221557.9_Missense_Mutation_p.R204H|PTOV1_ENST00000600603.1_Missense_Mutation_p.R204H|PTOV1_ENST00000599732.1_Missense_Mutation_p.R236H|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Missense_Mutation_p.R204H	p.R236H	NM_017432.3	NP_059128.2	WXS	Illumina GAIIx	Phase_I	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	6	877	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	236			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	c.707G>A	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846693	0.32606	2.27E-4	0.0	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.84	3.84	0.44239	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.505690	0.17796	N	0.161731	T	0.11922	0.0290	N	0.01352	-0.895	0.34467	D	0.702348	B;B	0.27882	0.022;0.192	B;B	0.15870	0.007;0.014	T	0.23726	-1.0180	9	0.11182	T	0.66	-52.4477	5.9191	0.19072	0.2088:0.0:0.7912:0.0	.	236;204	Q86YD1;Q86YD1-2	PTOV1_HUMAN;.	H	204;236	.	ENSP00000221557:R204H	R	+	2	0	PTOV1	55052192	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.311000	0.43717	2.428000	0.82296	0.462000	0.41574	CGC		0.617	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		5	578	0	0	0	1	0	5	578				
C5	727	broad.mit.edu	37	9	123785731	123785731	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123785731A>C	ENST00000223642.1	-	10	1096	c.1067T>G	c.(1066-1068)tTg>tGg	p.L356W		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	356					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AGTAGCAACCAAATTCAGTTT	0.433																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1066-1068)tTg>tGg		complement component 5	Eculizumab(DB01257)						206.0	200.0	202.0					9																	123785731		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123785731A>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1067T>G	9.37:g.123785731A>C	ENSP00000223642:p.Leu356Trp		Somatic					p.L356W	NM_001735.2	NP_001726.2	WXS	Illumina GAIIx	Phase_I	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	10	1096	-			356					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.1067T>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497385	0.85069	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.37058	1.22	5.64	5.64	0.86602	.	0.152212	0.43747	D	0.000528	T	0.62122	0.2402	M	0.77313	2.365	0.47547	D	0.999452	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.66736	-0.5848	10	0.87932	D	0	.	15.3422	0.74306	1.0:0.0:0.0:0.0	.	427;356	Q59GS8;P01031	.;CO5_HUMAN	W	356;427	ENSP00000223642:L356W	ENSP00000223642:L356W	L	-	2	0	C5	122825552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.914000	0.75764	2.275000	0.75901	0.528000	0.53228	TTG		0.433	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		4	211	0	0	0	1	0	4	211				
ATP11A	23250	broad.mit.edu	37	13	113487242	113487242	+	Silent	SNP	C	C	T	rs146801787	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:113487242C>T	ENST00000487903.1	+	14	1552	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	ATP11A_ENST00000375630.2_Silent_p.S488S|ATP11A_ENST00000375645.3_Silent_p.S488S|ATP11A_ENST00000283558.8_Silent_p.S488S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	488					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGATGACAGCGTAGACGGCC	0.587													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15393	0.0		0.0	False		,,,				2504	0.0					ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1462-1464)agC>agT		ATPase, class VI, type 11A		C	,	4,4402	8.1+/-20.4	0,4,2199	151.0	168.0	162.0		1464,1464	-11.4	0.0	13	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	,	488/1135,488/1192	113487242	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113487242C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1464C>T	13.37:g.113487242C>T			Somatic				ATP11A_ENST00000375630.2_Silent_p.S488S|ATP11A_ENST00000375645.3_Silent_p.S488S|ATP11A_ENST00000283558.8_Silent_p.S488S	p.S488S			WXS	Illumina GAIIx	Phase_I	P98196	AT11A_HUMAN			14	1552	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	488					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.1464C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	c	0.749	-0.773488	0.02951	9.08E-4	1.16E-4	ENSG00000068650	ENST00000418678	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	T	0.37320	0.0999	.	.	.	0.27296	N	0.957704	.	.	.	.	.	.	T	0.49283	-0.8956	4	.	.	.	.	15.4166	0.74974	0.0:0.1621:0.1403:0.6976	.	.	.	.	V	463	.	.	A	+	2	0	ATP11A	112535243	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.475000	0.02335	-2.947000	0.00295	-0.974000	0.02594	GCG		0.587	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		5	253	0	0	0	1	0	5	253				
CCDC97	90324	broad.mit.edu	37	19	41822665	41822665	+	Silent	SNP	G	G	A	rs371814241		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:41822665G>A	ENST00000269967.3	+	2	545	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	141										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AGGTGGCCCGGCAGGGCACTG	0.687																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(421-423)cgG>cgA		coiled-coil domain containing 97							32.0	35.0	34.0					19																	41822665		2202	4299	6501	SO:0001819	synonymous_variant	90324							g.chr19:41822665G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.423G>A	19.37:g.41822665G>A			Somatic					p.R141R	NM_052848.1	NP_443080.1	WXS	Illumina GAIIx	Phase_I	Q96F63	CCD97_HUMAN			2	545	+			141					Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	c.423G>A	CCDS12578.1																																																																																				0.687	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		4	191	0	0	0	1	0	4	191				
CHMP4A	29082	broad.mit.edu	37	14	24679089	24679089	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:24679089T>A	ENST00000609024.1	-	6	711	c.663A>T	c.(661-663)gtA>gtT	p.V221V	CHMP4A_ENST00000347519.6_Silent_p.V264V|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Intron|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Intron|CHMP4A_ENST00000530996.1_Silent_p.V116V			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	221	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TTTATCAGGATACCCACTCAG	0.438																																						ENST00000347519.6																			0				NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(790-792)gtA>gtT		charged multivesicular body protein 4A							278.0	234.0	249.0					14																	24679089		2203	4300	6503	SO:0001819	synonymous_variant	29082							g.chr14:24679089T>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.663A>T	14.37:g.24679089T>A			Somatic				CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Intron|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_Intron	p.V264V	NM_014169.3	NP_054888.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(265;0.0181)	6	1092	-								Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	ENST00000609024.1	37	c.792A>T		.	.	.	.	.	.	.	.	.	.	T	14.49	2.550712	0.45383	.	.	ENSG00000254505	ENST00000548308	.	.	.	5.25	0.288	0.15719	.	.	.	.	.	T	0.54127	0.1839	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43180	-0.9407	4	.	.	.	-2.217	7.6502	0.28344	0.0:0.3237:0.0:0.6763	.	.	.	.	F	204	.	.	I	-	1	0	AL096870.1	23748929	0.776000	0.28616	0.996000	0.52242	0.982000	0.71751	-0.426000	0.07008	-0.090000	0.12462	0.459000	0.35465	ATC		0.438	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		11	1621	0	0	0	1	0	11	1621				
KIAA1147	57189	broad.mit.edu	37	7	141362533	141362533	+	Missense_Mutation	SNP	G	G	A	rs371347863		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:141362533G>A	ENST00000536163.1	-	9	1290	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.R327W	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	431										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					AGAAAGCTCCGGTCTCCTTGG	0.567																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(1291-1293)Cgg>Tgg		KIAA1147		G	TRP/ARG	0,3844		0,0,1922	40.0	41.0	41.0		1291	3.4	1.0	7		41	1,8275		0,1,4137	no	missense	KIAA1147	NM_001080392.1	101	0,1,6059	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	431/456	141362533	1,12119	1922	4138	6060	SO:0001583	missense	57189							g.chr7:141362533G>A	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.1291C>T	7.37:g.141362533G>A	ENSP00000445768:p.Arg431Trp		Somatic				KIAA1147_ENST00000482493.1_Missense_Mutation_p.R327W	p.R431W	NM_001080392.1	NP_001073861.1	WXS	Illumina GAIIx	Phase_I	A4D1U4	LCHN_HUMAN			9	1290	-	Melanoma(164;0.0171)		431					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.1291C>T	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424772	0.83667	0.0	1.21E-4	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.41	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.62723	1.935	0.58432	D	0.999997	D	0.89917	1.0	D	0.67548	0.952	T	0.70142	-0.4953	9	0.72032	D	0.01	-20.2827	9.7206	0.40300	0.0723:0.0:0.7532:0.1745	.	431	A4D1U4	LCHN_HUMAN	W	431;327	.	ENSP00000297761:R431W	R	-	1	2	KIAA1147	141009002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.139000	0.58024	1.051000	0.40369	0.591000	0.81541	CGG		0.567	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			5	365	0	0	0	1	0	5	365				
ADAT2	134637	broad.mit.edu	37	6	143771731	143771731	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:143771731G>A	ENST00000237283.8	-	1	79	c.65C>T	c.(64-66)aCc>aTc	p.T22I	ADAT2_ENST00000367593.1_5'UTR|RNA5SP221_ENST00000411271.1_RNA|PEX3_ENST00000367591.4_5'Flank	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	22					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		CCACTTTTCGGTCTCCTCTGC	0.657																																						ENST00000237283.8																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(64-66)aCc>aTc		adenosine deaminase, tRNA-specific 2							93.0	105.0	101.0					6																	143771731		2030	4187	6217	SO:0001583	missense	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143771731G>A	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.65C>T	6.37:g.143771731G>A	ENSP00000237283:p.Thr22Ile		Somatic				ADAT2_ENST00000367593.1_5'UTR	p.T22I	NM_182503.2	NP_872309.2	WXS	Illumina GAIIx	Phase_I	Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	1	79	-			22					A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	c.65C>T	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315536	0.23908	.	.	ENSG00000189007	ENST00000237283;ENST00000367593	T	0.41400	1.0	4.78	-2.56	0.06268	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.779123	0.11340	N	0.574184	T	0.07143	0.0181	N	0.11560	0.145	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34279	-0.9835	10	0.42905	T	0.14	-0.516	6.0943	0.20010	0.5663:0.1871:0.2466:0.0	.	22	Q7Z6V5	ADAT2_HUMAN	I	22	ENSP00000237283:T22I	ENSP00000237283:T22I	T	-	2	0	ADAT2	143813424	0.038000	0.19896	0.105000	0.21289	0.195000	0.23768	-0.195000	0.09546	-0.477000	0.06832	-0.259000	0.10710	ACC		0.657	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		6	279	0	0	0	1	0	6	279				
NCOA5	57727	broad.mit.edu	37	20	44691382	44691382	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44691382C>T	ENST00000290231.6	-	8	1461	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGGATTTTGGCCTGAAGCTCT	0.582																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1297-1299)Gcc>Acc		nuclear receptor coactivator 5							96.0	103.0	101.0					20																	44691382		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691382C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1297G>A	20.37:g.44691382C>T	ENSP00000290231:p.Ala433Thr		Somatic					p.A433T	NM_020967.2	NP_066018.1	WXS	Illumina GAIIx	Phase_I	Q9HCD5	NCOA5_HUMAN			8	1461	-		Myeloproliferative disorder(115;0.0122)	433					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1297G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376576	0.82682	.	.	ENSG00000124160	ENST00000290231	T	0.57107	0.42	5.54	5.54	0.83059	.	0.096544	0.64402	D	0.000001	T	0.61689	0.2367	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61792	-0.6990	10	0.48119	T	0.1	-12.5728	18.6556	0.91452	0.0:1.0:0.0:0.0	.	433	Q9HCD5	NCOA5_HUMAN	T	433	ENSP00000290231:A433T	ENSP00000290231:A433T	A	-	1	0	NCOA5	44124789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.092000	0.76930	2.884000	0.98904	0.655000	0.94253	GCC		0.582	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		6	373	0	0	0	1	0	6	373				
ZNF264	9422	broad.mit.edu	37	19	57716795	57716795	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:57716795G>A	ENST00000263095.6	+	3	605	c.191G>A	c.(190-192)tGc>tAc	p.C64Y	ZNF264_ENST00000536056.1_Missense_Mutation_p.C64Y	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGCTGATCTGCCACCTAGAG	0.512																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(190-192)tGc>tAc		zinc finger protein 264							58.0	46.0	50.0					19																	57716795		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57716795G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.191G>A	19.37:g.57716795G>A	ENSP00000263095:p.Cys64Tyr		Somatic				ZNF264_ENST00000536056.1_Missense_Mutation_p.C64Y	p.C64Y	NM_003417.4	NP_003408.1	WXS	Illumina GAIIx	Phase_I	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	605	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	64			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.191G>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.906139	0.00057	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.00760	5.73;5.73	2.62	-5.25	0.02781	Krueppel-associated box (3);	.	.	.	.	T	0.00384	0.0012	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	9	0.16420	T	0.52	.	4.2573	0.10724	0.1438:0.1165:0.508:0.2317	.	64	O43296	ZN264_HUMAN	Y	64	ENSP00000263095:C64Y;ENSP00000440376:C64Y	ENSP00000263095:C64Y	C	+	2	0	ZNF264	62408607	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.680000	0.01939	-2.789000	0.00357	-1.817000	0.00601	TGC		0.512	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			7	85	0	0	0	1	0	7	85				
TUBB8P7	197331	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T	rs532637415	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:90162555C>T	ENST00000564451.1	+	0	1908				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		ATGCCACGGCCGAGGAGGAGG	0.522																																						ENST00000567960.1																			0																																																			197331							g.chr16:90162555C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162555C>T			Somatic				TUBB8P7_ENST00000564451.1_RNA				WXS	Illumina GAIIx	Phase_I					0	1291	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	163	0	0	0	1	0	4	163				
NR1H3	10062	broad.mit.edu	37	11	47283429	47283429	+	Intron	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:47283429G>A	ENST00000467728.1	+	6	2126				NR1H3_ENST00000481889.2_Missense_Mutation_p.S302N|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000405576.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCCAAGACCAGCCCTCCTAGT	0.582																																						ENST00000481889.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(904-906)aGc>aAc		nuclear receptor subfamily 1, group H, member 3							151.0	141.0	145.0					11																	47283429		2201	4298	6499	SO:0001627	intron_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47283429G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.889-41G>A	11.37:g.47283429G>A			Somatic				NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000467728.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000407404.1_Intron	p.S302N			WXS	Illumina GAIIx	Phase_I	Q13133	NR1H3_HUMAN			5	1073	+			198			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.905G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267456	0.23136	.	.	ENSG00000025434	ENST00000481889	D	0.92199	-2.99	5.53	0.306	0.15806	.	.	.	.	.	D	0.82318	0.5011	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65915	-0.6052	7	.	.	.	.	4.4135	0.11445	0.2039:0.108:0.5775:0.1106	.	302	E9PLL4	.	N	302	ENSP00000433271:S302N	.	S	+	2	0	NR1H3	47240005	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.712000	0.05013	-0.108000	0.12066	-0.907000	0.02831	AGC		0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			5	655	0	0	0	1	0	5	655				
SYNGAP1	8831	broad.mit.edu	37	6	33410982	33410982	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33410982C>T	ENST00000418600.2	+	15	2754	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P826S|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P885S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	885					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						GGGGCTACGGCCTGCGCCTGC	0.677																																						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.(2653-2655)Cct>Tct		synaptic Ras GTPase activating protein 1							49.0	49.0	49.0					6																	33410982		2203	4299	6502	SO:0001583	missense	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.chr6:33410982C>T	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.2653C>T	6.37:g.33410982C>T	ENSP00000403636:p.Pro885Ser		Somatic				SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P885S|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P826S|SYNGAP1_ENST00000496374.1_3'UTR	p.P885S	NM_006772.2	NP_006763.2	WXS	Illumina GAIIx	Phase_I	Q96PV0	SYGP1_HUMAN			15	2754	+			885					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2653C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761247	0.15914	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.10477	2.87;2.87;2.87	4.52	4.52	0.55395	.	0.786887	0.11677	N	0.540187	T	0.06050	0.0157	L	0.50333	1.59	0.28260	N	0.924877	B;D;D	0.52996	0.369;0.957;0.957	B;P;P	0.46076	0.222;0.503;0.503	T	0.24905	-1.0147	10	0.15952	T	0.53	.	12.5968	0.56474	0.0:1.0:0.0:0.0	.	885;885;885	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	S	885;885;871;826	ENSP00000293748:P885S;ENSP00000403636:P885S;ENSP00000412475:P826S	ENSP00000293748:P885S	P	+	1	0	SYNGAP1	33518960	0.997000	0.39634	1.000000	0.80357	0.814000	0.46013	2.131000	0.42074	2.343000	0.79666	0.591000	0.81541	CCT		0.677	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	291	0	0	0	1	0	7	291				
RAI2	10742	broad.mit.edu	37	X	17819097	17819097	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:17819097A>T	ENST00000545871.1	-	3	1494	c.1034T>A	c.(1033-1035)cTg>cAg	p.L345Q	RAI2_ENST00000360011.1_Missense_Mutation_p.L345Q|RAI2_ENST00000331511.1_Missense_Mutation_p.L345Q|RAI2_ENST00000451717.1_Missense_Mutation_p.L345Q|RAI2_ENST00000415486.3_Missense_Mutation_p.L295Q	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	345					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGCCACTGACAGGTCTAGGGC	0.562																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1033-1035)cTg>cAg		retinoic acid induced 2							77.0	71.0	73.0					X																	17819097		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17819097A>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1034T>A	X.37:g.17819097A>T	ENSP00000444210:p.Leu345Gln		Somatic				RAI2_ENST00000331511.1_Missense_Mutation_p.L345Q|RAI2_ENST00000360011.1_Missense_Mutation_p.L345Q|RAI2_ENST00000415486.3_Missense_Mutation_p.L295Q|RAI2_ENST00000451717.1_Missense_Mutation_p.L345Q	p.L345Q	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	WXS	Illumina GAIIx	Phase_I	Q9Y5P3	RAI2_HUMAN			3	1494	-	Hepatocellular(33;0.183)		345					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1034T>A	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	a	16.35	3.097737	0.56075	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.51	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000015	T	0.68586	0.3017	L	0.58101	1.795	0.48975	D	0.999737	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71968	-0.4432	10	0.87932	D	0	-16.669	14.0079	0.64475	1.0:0.0:0.0:0.0	.	295;345	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	Q	345;345;345;345;295	ENSP00000333456:L345Q;ENSP00000353106:L345Q;ENSP00000444210:L345Q;ENSP00000401323:L345Q;ENSP00000392578:L295Q	ENSP00000333456:L345Q	L	-	2	0	RAI2	17729018	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	8.304000	0.89958	1.963000	0.57068	0.483000	0.47432	CTG		0.562	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		6	216	0	0	0	1	0	6	216				
MRC2	9902	broad.mit.edu	37	17	60741933	60741933	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:60741933G>A	ENST00000303375.5	+	2	545	c.143G>A	c.(142-144)aGc>aAc	p.S48N	Y_RNA_ENST00000384652.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	48	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTCATCTTCAGCCATGGACTG	0.632																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(142-144)aGc>aAc		mannose receptor, C type 2							98.0	101.0	100.0					17																	60741933		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60741933G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.143G>A	17.37:g.60741933G>A	ENSP00000307513:p.Ser48Asn		Somatic					p.S48N	NM_006039.4	NP_006030.2	WXS	Illumina GAIIx	Phase_I	Q9UBG0	MRC2_HUMAN			2	545	+			48			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.143G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253757	0.22965	.	.	ENSG00000011028	ENST00000303375	T	0.27256	1.68	4.7	2.61	0.31194	Ricin B-related lectin (1);Ricin B lectin (1);	0.298086	0.41500	D	0.000868	T	0.12305	0.0299	N	0.17379	0.485	0.28057	N	0.933118	B	0.02656	0.0	B	0.04013	0.001	T	0.25082	-1.0142	10	0.11485	T	0.65	-31.3762	8.0294	0.30457	0.178:0.1487:0.6733:0.0	.	48	Q9UBG0	MRC2_HUMAN	N	48	ENSP00000307513:S48N	ENSP00000307513:S48N	S	+	2	0	MRC2	58095665	0.921000	0.31238	0.996000	0.52242	0.918000	0.54935	1.441000	0.35035	1.218000	0.43458	0.561000	0.74099	AGC		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			5	361	0	0	0	1	0	5	361				
CACNA1D	776	broad.mit.edu	37	3	53804535	53804535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:53804535G>A	ENST00000350061.5	+	32	4511	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K	CACNA1D_ENST00000540742.1_Missense_Mutation_p.E226K|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E1354K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1319K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1334					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCAGGGGGGAAGGCATCCG	0.448																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(4060-4062)Gaa>Aaa		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						92.0	93.0	93.0					3																	53804535		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53804535G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4000G>A	3.37:g.53804535G>A	ENSP00000288133:p.Glu1334Lys		Somatic				CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1334K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1319K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.E226K	p.E1354K	NM_000720.2	NP_000711.1	WXS	Illumina GAIIx	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	33	4178	+			1334					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.4060G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159171	0.94686	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03	5.66	5.66	0.87406	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	L	0.38692	1.165	0.80722	D	1	D;B;D;D;D	0.89917	1.0;0.095;1.0;0.999;1.0	D;B;D;D;D	0.97110	1.0;0.061;0.992;0.988;0.994	D	0.99930	1.1313	10	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	1319;226;1027;1334;1354	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	K	1334;1354;1319;1027;226	ENSP00000288133:E1334K;ENSP00000288139:E1354K;ENSP00000409174:E1319K;ENSP00000418014:E1027K;ENSP00000438229:E226K	ENSP00000288139:E1354K	E	+	1	0	CACNA1D	53779575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.666000	0.90696	0.655000	0.94253	GAA		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		6	284	0	0	0	1	0	6	284				
NBPF14	25832	broad.mit.edu	37	1	148004656	148004656	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:148004656A>G	ENST00000369219.1	-	22	2674	c.2658T>C	c.(2656-2658)ttT>ttC	p.F886F				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	886	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCTCTTCCTCAAATGAGTAAA	0.433																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(2656-2658)ttT>ttC		neuroblastoma breakpoint family, member 14							105.0	165.0	145.0					1																	148004656		2045	4213	6258	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148004656A>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2658T>C	1.37:g.148004656A>G			Somatic					p.F886F			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			22	2674	-	all_hematologic(923;0.032)		886			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.2658T>C		.	.	.	.	.	.	.	.	.	.	a	1.351	-0.591293	0.03799	.	.	ENSG00000122497	ENST00000310701	.	.	.	0.445	-0.891	0.10573	.	.	.	.	.	T	0.08492	0.0211	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37291	-0.9712	3	.	.	.	.	.	.	.	.	.	.	.	S	892	.	.	L	-	2	0	NBPF14	146471280	0.920000	0.31207	0.002000	0.10522	0.017000	0.09413	-0.753000	0.04792	-0.659000	0.05359	0.305000	0.20034	TTG		0.433	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		10	1336	0	0	0	1	0	10	1336				
SLC6A19	340024	broad.mit.edu	37	5	1219701	1219701	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:1219701G>A	ENST00000304460.10	+	10	1516	c.1460G>A	c.(1459-1461)aGc>aAc	p.S487N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	487					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCTGGACAGCTATGCCGGC	0.607																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1459-1461)aGc>aAc		solute carrier family 6 (neutral amino acid transporter), member 19							160.0	133.0	142.0					5																	1219701		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219701G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1460G>A	5.37:g.1219701G>A	ENSP00000305302:p.Ser487Asn		Somatic					p.S487N	NM_001003841.2	NP_001003841.1	WXS	Illumina GAIIx	Phase_I	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1516	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		487					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1460G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	3.593	-0.083092	0.07141	.	.	ENSG00000174358	ENST00000304460	T	0.74315	-0.83	4.83	-0.352	0.12598	.	0.408233	0.33217	N	0.005149	T	0.49508	0.1561	N	0.16201	0.385	0.19300	N	0.999971	B	0.02656	0.0	B	0.15052	0.012	T	0.25745	-1.0123	10	0.23302	T	0.38	.	5.9777	0.19389	0.3619:0.122:0.516:0.0	.	487	Q695T7	S6A19_HUMAN	N	487	ENSP00000305302:S487N	ENSP00000305302:S487N	S	+	2	0	SLC6A19	1272701	0.117000	0.22190	0.012000	0.15200	0.040000	0.13550	1.061000	0.30542	-0.097000	0.12307	-0.362000	0.07510	AGC		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		8	39	0	0	0	1	0	8	39				
SETDB1	9869	broad.mit.edu	37	1	150923430	150923430	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150923430T>C	ENST00000271640.5	+	13	2267	c.2077T>C	c.(2077-2079)Tgt>Cgt	p.C693R	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.C693R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	693					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.C693R(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCCTATCCTGTGTCAATGA	0.458																																						ENST00000271640.5																			1	Substitution - Missense(1)	p.C693R(1)	kidney(1)	NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2077-2079)Tgt>Cgt		SET domain, bifurcated 1							96.0	97.0	97.0					1																	150923430		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923430T>C	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2077T>C	1.37:g.150923430T>C	ENSP00000271640:p.Cys693Arg		Somatic				SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.C693R	p.C693R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	WXS	Illumina GAIIx	Phase_I	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	2267	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		693					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2077T>C	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095896	0.76870	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	T;T;T	0.76709	-1.04;-1.04;-1.04	5.66	5.66	0.87406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.087163	0.85682	D	0.000000	D	0.88016	0.6324	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.994;0.996	D	0.90351	0.4366	10	0.72032	D	0.01	.	15.0838	0.72135	0.0:0.0:0.0:1.0	.	693;693;693	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	R	693	ENSP00000271640:C693R;ENSP00000357965:C693R;ENSP00000432348:C693R	ENSP00000271640:C693R	C	+	1	0	SETDB1	149190054	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.992000	0.88273	2.146000	0.66826	0.533000	0.62120	TGT		0.458	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			41	247	0	0	0	1	0	41	247				
GATAD2A	54815	broad.mit.edu	37	19	19606584	19606584	+	Missense_Mutation	SNP	G	G	A	rs553582482		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:19606584G>A	ENST00000360315.3	+	6	958	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	GATAD2A_ENST00000252577.5_Missense_Mutation_p.G216S|GATAD2A_ENST00000404158.1_Missense_Mutation_p.G216S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G43S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G216S|GATAD2A_ENST00000537887.1_Intron	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	216					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TCGGATGCCCGGCAGTGTCAT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		14123	0.0		0.0	False		,,,				2504	0.001					ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(646-648)Ggc>Agc		GATA zinc finger domain containing 2A							63.0	56.0	58.0					19																	19606584		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19606584G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.646G>A	19.37:g.19606584G>A	ENSP00000353463:p.Gly216Ser		Somatic				GATAD2A_ENST00000252577.5_Missense_Mutation_p.G216S|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G216S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G43S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G216S	p.G216S			WXS	Illumina GAIIx	Phase_I	Q86YP4	P66A_HUMAN			8	1064	+			216					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.646G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478237	0.84747	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T	0.42131	1.42;1.49;1.6;1.42;0.98	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.993	T	0.53085	-0.8488	10	0.19590	T	0.45	-1.4812	16.7613	0.85513	0.0:0.0:1.0:0.0	.	43;235;216	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	S	216;216;235;216;43	ENSP00000353463:G216S;ENSP00000252577:G216S;ENSP00000384899:G235S;ENSP00000351552:G216S;ENSP00000388416:G43S	ENSP00000252577:G216S	G	+	1	0	GATAD2A	19467584	1.000000	0.71417	0.971000	0.41717	0.933000	0.57130	5.863000	0.69568	2.360000	0.80028	0.655000	0.94253	GGC		0.602	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		4	81	0	0	0	1	0	4	81				
STRIP1	85369	broad.mit.edu	37	1	110594473	110594473	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:110594473C>T	ENST00000369795.3	+	20	2252	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	STRIP1_ENST00000369796.1_Missense_Mutation_p.R649W	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	744				R -> Q (in Ref. 3; BAB55265). {ECO:0000305}.	cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CCAGAAGGTGCGGCATCGGCT	0.537																																						ENST00000369795.3																			0											c.(2230-2232)Cgg>Tgg		striatin interacting protein 1							112.0	96.0	102.0					1																	110594473		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110594473C>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.2230C>T	1.37:g.110594473C>T	ENSP00000358810:p.Arg744Trp		Somatic				STRIP1_ENST00000369796.1_Missense_Mutation_p.R649W	p.R744W	NM_033088.2	NP_149079.2	WXS	Illumina GAIIx	Phase_I					20	2252	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.2230C>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793633	0.90453	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.60424	0.21;0.19	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84463	0.0595	10	0.87932	D	0	-24.4042	18.6578	0.91460	0.0:1.0:0.0:0.0	.	649;744	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	W	649;744	ENSP00000358811:R649W;ENSP00000358810:R744W	ENSP00000358810:R744W	R	+	1	2	FAM40A	110395996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.768000	0.62293	2.706000	0.92434	0.561000	0.74099	CGG		0.537	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		4	443	0	0	0	1	0	4	443				
SMOC1	64093	broad.mit.edu	37	14	70480174	70480174	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:70480174G>A	ENST00000381280.4	+	10	1265	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	SMOC1_ENST00000361956.3_Missense_Mutation_p.A338T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	338					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CATGGTTCAGGCCATTAACTC	0.488											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(1012-1014)Gcc>Acc		SPARC related modular calcium binding 1							83.0	78.0	79.0					14																	70480174		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70480174G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1012G>A	14.37:g.70480174G>A	ENSP00000370680:p.Ala338Thr		Somatic	OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	SMOC1_ENST00000361956.3_Missense_Mutation_p.A338T	p.A338T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	WXS	Illumina GAIIx	Phase_I	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	10	1265	+			338					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.1012G>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354781	0.95854	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.60548	0.18;0.18	5.35	5.35	0.76521	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	L	0.31664	0.95	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.996	T	0.68394	-0.5420	10	0.49607	T	0.09	-22.3376	19.428	0.94751	0.0:0.0:1.0:0.0	.	338;338	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	T	338	ENSP00000355110:A338T;ENSP00000370680:A338T	ENSP00000355110:A338T	A	+	1	0	SMOC1	69549927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.664000	0.90586	0.514000	0.50259	GCC		0.488	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			7	147	0	0	0	1	0	7	147				
CHST12	55501	broad.mit.edu	37	7	2473128	2473128	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:2473128C>T	ENST00000258711.6	+	2	989	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	285					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		ACCAGCCTGCCCGCCTCGGCG	0.652																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(853-855)cCc>cTc		carbohydrate (chondroitin 4) sulfotransferase 12							47.0	47.0	47.0					7																	2473128		2202	4292	6494	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473128C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.854C>T	7.37:g.2473128C>T	ENSP00000258711:p.Pro285Leu		Somatic					p.P285L	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	WXS	Illumina GAIIx	Phase_I	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	989	+		Ovarian(82;0.0253)	285					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.854C>T	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311290	0.60414	.	.	ENSG00000136213	ENST00000258711	T	0.71222	-0.55	5.27	5.27	0.74061	.	0.000000	0.43919	U	0.000506	D	0.86075	0.5846	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86715	0.1938	10	0.46703	T	0.11	-11.0046	18.8686	0.92303	0.0:1.0:0.0:0.0	.	285	Q9NRB3	CHSTC_HUMAN	L	285	ENSP00000258711:P285L	ENSP00000258711:P285L	P	+	2	0	CHST12	2439654	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.283000	0.78640	2.464000	0.83262	0.462000	0.41574	CCC		0.652	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		4	202	0	0	0	1	0	4	202				
OR13D1	286365	broad.mit.edu	37	9	107457094	107457094	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:107457094T>A	ENST00000318763.5	+	1	435	c.392T>A	c.(391-393)cTg>cAg	p.L131Q		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GGCTGTGCTCTGCAGATGGTT	0.483																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(391-393)cTg>cAg		olfactory receptor, family 13, subfamily D, member 1							171.0	166.0	168.0					9																	107457094		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457094T>A		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.392T>A	9.37:g.107457094T>A	ENSP00000317357:p.Leu131Gln		Somatic					p.L131Q	NM_001004484.1	NP_001004484.1	WXS	Illumina GAIIx	Phase_I	Q8NGV5	O13D1_HUMAN			1	435	+			131					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.392T>A	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	T	9.725	1.160741	0.21538	.	.	ENSG00000179055	ENST00000318763	T	0.02737	4.18	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	N	0.001197	T	0.13586	0.0329	M	0.88979	2.995	0.09310	N	1	D	0.60160	0.987	P	0.58928	0.848	T	0.03068	-1.1076	10	0.87932	D	0	.	10.4328	0.44417	0.0:0.0:0.0:1.0	.	131	Q8NGV5	O13D1_HUMAN	Q	131	ENSP00000317357:L131Q	ENSP00000317357:L131Q	L	+	2	0	OR13D1	106496915	0.001000	0.12720	0.601000	0.28877	0.020000	0.10135	1.072000	0.30678	1.560000	0.49568	0.496000	0.49642	CTG		0.483	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			6	477	0	0	0	1	0	6	477				
PFAS	5198	broad.mit.edu	37	17	8168629	8168629	+	Missense_Mutation	SNP	G	G	C	rs201768261		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8168629G>C	ENST00000314666.6	+	19	2437	c.2304G>C	c.(2302-2304)tgG>tgC	p.W768C	PFAS_ENST00000545834.1_Missense_Mutation_p.W344C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	768					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.W768C(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCGGGAACTGGATGTGGGCAG	0.627																																						ENST00000314666.6																			1	Substitution - Missense(1)	p.W768C(1)	kidney(1)	central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2302-2304)tgG>tgC		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						73.0	74.0	74.0					17																	8168629		2202	4300	6502	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8168629G>C	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2304G>C	17.37:g.8168629G>C	ENSP00000313490:p.Trp768Cys		Somatic				PFAS_ENST00000545834.1_Missense_Mutation_p.W344C	p.W768C	NM_012393.2	NP_036525.1	WXS	Illumina GAIIx	Phase_I	O15067	PUR4_HUMAN			19	2437	+			768					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2304G>C	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390871	0.82902	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.36340	1.26;1.94	5.89	5.89	0.94794	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.74160	0.3680	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82684	-0.0335	10	0.87932	D	0	-13.7655	17.75	0.88430	0.0:0.0:1.0:0.0	.	768	O15067	PUR4_HUMAN	C	344;768;177	ENSP00000441706:W344C;ENSP00000313490:W768C	ENSP00000313490:W768C	W	+	3	0	PFAS	8109354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.874000	0.92363	2.797000	0.96272	0.563000	0.77884	TGG		0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			66	185	0	0	0	1	0	66	185				
UNC5CL	222643	broad.mit.edu	37	6	41002736	41002736	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:41002736A>G	ENST00000373164.1	-	1	138	c.78T>C	c.(76-78)ctT>ctC	p.L26L	UNC5CL_ENST00000244565.3_Silent_p.L26L|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	26					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.L26L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATTGGGCCAGAAGGAGGACAC	0.602																																						ENST00000244565.3																			1	Substitution - coding silent(1)	p.L26L(1)	kidney(1)	endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(76-78)ctT>ctC		unc-5 homolog C (C. elegans)-like							60.0	55.0	57.0					6																	41002736		2203	4300	6503	SO:0001819	synonymous_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002736A>G	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.78T>C	6.37:g.41002736A>G			Somatic				UNC5CL_ENST00000373164.1_Silent_p.L26L	p.L26L	NM_173561.2	NP_775832.2	WXS	Illumina GAIIx	Phase_I	Q8IV45	UN5CL_HUMAN			2	166	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		26					Q5TGU1	Silent	SNP	ENST00000373164.1	37	c.78T>C	CCDS4847.1																																																																																				0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		311	263	0	0	0	1	0	311	263				
CHD3	1107	broad.mit.edu	37	17	7811302	7811302	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7811302G>A	ENST00000330494.7	+	34	5267	c.5117G>A	c.(5116-5118)cGg>cAg	p.R1706Q	CHD3_ENST00000358181.4_Missense_Mutation_p.R1672Q|CHD3_ENST00000380358.4_Missense_Mutation_p.R1765Q|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1706	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGAAGCCCCGGTTCATGTTC	0.562																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5293-5295)cGg>cAg		chromodomain helicase DNA binding protein 3							109.0	103.0	105.0					17																	7811302		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7811302G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5117G>A	17.37:g.7811302G>A	ENSP00000332628:p.Arg1706Gln		Somatic				CHD3_ENST00000330494.7_Missense_Mutation_p.R1706Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R1672Q	p.R1765Q	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			34	5295	+		Prostate(122;0.202)	1706			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.5294G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037382	0.54896	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	D;D;D	0.90788	-2.73;-2.69;-2.67	4.83	4.83	0.62350	.	0.000000	0.40908	D	0.000984	D	0.92479	0.7612	L	0.46157	1.445	0.50813	D	0.999899	D;B;P;P	0.71674	0.998;0.406;0.485;0.872	P;B;B;B	0.58520	0.84;0.208;0.103;0.319	D	0.92918	0.6353	10	0.56958	D	0.05	-19.5619	18.1243	0.89581	0.0:0.0:1.0:0.0	.	283;1672;1706;1765	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	Q	1765;1672;1706;34	ENSP00000369716:R1765Q;ENSP00000350907:R1672Q;ENSP00000332628:R1706Q	ENSP00000332628:R1706Q	R	+	2	0	CHD3	7752027	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.807000	0.86032	2.509000	0.84616	0.561000	0.74099	CGG		0.562	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		26	1477	0	0	0	1	0	26	1477				
LPHN3	23284	broad.mit.edu	37	4	62758491	62758491	+	Missense_Mutation	SNP	G	G	A	rs35106420	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:62758491G>A	ENST00000514591.1	+	9	1723	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	LPHN3_ENST00000512091.2_Missense_Mutation_p.R465Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R533Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	465			R -> Q (in dbSNP:rs35106420). {ECO:0000269|PubMed:21184580}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R465L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGAAGAAACCGGAGTACTAGT	0.542													G|||	29	0.00579073	0.0	0.0014	5008	,	,		15236	0.001		0.0159	False		,,,				2504	0.0112					ENST00000512091.1																			3	Substitution - Missense(3)	p.R465L(3)	lung(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1393-1395)cGg>cAg		latrophilin 3		G	GLN/ARG	12,4046		0,12,2017	120.0	117.0	118.0		1394	5.0	1.0	4	dbSNP_126	118	127,8221		1,125,4048	yes	missense	LPHN3	NM_015236.4	43	1,137,6065	AA,AG,GG		1.5213,0.2957,1.1204	benign	465/1470	62758491	139,12267	2029	4174	6203	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758491G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1394G>A	4.37:g.62758491G>A	ENSP00000422533:p.Arg465Gln		Somatic				LPHN3_ENST00000509896.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R465Q	p.R465Q			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			9	2141	+			465		R -> Q (in dbSNP:rs35106420).			E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1394G>A	CCDS54768.1	11	0.005036630036630037	0	0.0	0	0.0	1	0.0017482517482517483	10	0.013192612137203167	G	12.78	2.040446	0.35989	0.002957	0.015213	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.83	4.98	0.66077	.	0.228731	0.36200	N	0.002727	T	0.33030	0.0849	N	0.24115	0.695	0.37818	D	0.928275	P;P	0.52170	0.684;0.951	B;B	0.38880	0.045;0.284	T	0.47071	-0.9145	10	0.13470	T	0.59	.	16.0266	0.80550	0.0:0.1345:0.8655:0.0	rs35106420	465;465	E9PE04;Q9HAR2-2	.;.	Q	465;465;533;533;465;465;465;465;465;533;533;533;465;465;465;533;533;465	ENSP00000423388:R465Q;ENSP00000422533:R465Q;ENSP00000423787:R533Q;ENSP00000425033:R533Q;ENSP00000424120:R465Q;ENSP00000439831:R465Q;ENSP00000421476:R533Q;ENSP00000424030:R533Q;ENSP00000421372:R533Q;ENSP00000425201:R465Q;ENSP00000423434:R465Q;ENSP00000421627:R465Q;ENSP00000420931:R533Q;ENSP00000425884:R533Q;ENSP00000424258:R465Q	ENSP00000280009:R465Q	R	+	2	0	LPHN3	62441086	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.674000	0.61612	1.451000	0.47736	0.563000	0.77884	CGG		0.542	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			15	463	0	0	0	1	0	15	463				
ECH1	1891	broad.mit.edu	37	19	39306306	39306306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39306306G>A	ENST00000221418.4	-	10	1166	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	LGALS4_ENST00000597803.1_5'Flank|LGALS4_ENST00000307751.4_5'Flank	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	312					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTCGTGGCCTGGACCGACTTC	0.617																																						ENST00000221418.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(934-936)Cag>Tag		enoyl CoA hydratase 1, peroxisomal							133.0	99.0	111.0					19																	39306306		2203	4300	6503	SO:0001587	stop_gained	1891							g.chr19:39306306G>A	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.934C>T	19.37:g.39306306G>A	ENSP00000221418:p.Gln312*		Somatic					p.Q312*	NM_001398.2	NP_001389.2	WXS	Illumina GAIIx	Phase_I			Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		10	1166	-	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)							A8K745|Q8WVX0|Q96EZ9	Nonsense_Mutation	SNP	ENST00000221418.4	37	c.934C>T	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767865	0.49680	.	.	ENSG00000104823	ENST00000221418	.	.	.	5.62	4.54	0.55810	.	0.143577	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	15.4884	0.75584	0.0:0.1386:0.8614:0.0	.	.	.	.	X	312	.	ENSP00000221418:Q312X	Q	-	1	0	ECH1	43998146	1.000000	0.71417	0.948000	0.38648	0.010000	0.07245	5.727000	0.68523	2.650000	0.89964	0.561000	0.74099	CAG		0.617	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			11	385	0	0	0	1	0	11	385				
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370931.3_Intron|RP3-333A15.1_ENST00000426775.1_RNA	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	gcagattaactaaccacagat	0.313																																						ENST00000414819.1																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e5-2		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						106.0	94.0	98.0					1																	71418744		2203	4300	6503	SO:0001630	splice_region_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71418744T>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.1171-2A>T	1.37:g.71418744T>A			Somatic				PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron		NM_001126044.1	NP_001119516.1	WXS	Illumina GAIIx	Phase_I	P43115	PE2R3_HUMAN			5	1427	-								B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000414819.1	37		CCDS656.1																																																																																				0.313	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957	Intron	7	586	0	0	0	1	0	7	586				
RHOB	388	broad.mit.edu	37	2	20647327	20647327	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:20647327A>G	ENST00000272233.4	+	1	493	c.101A>G	c.(100-102)tAc>tGc	p.Y34C		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	34					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Y34C(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CCCGAGGTGTACGTGCCCACC	0.637																																						ENST00000272233.4																			1	Substitution - Missense(1)	p.Y34C(1)	kidney(1)	breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7						c.(100-102)tAc>tGc		ras homolog family member B							110.0	111.0	110.0					2																	20647327		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647327A>G		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.101A>G	2.37:g.20647327A>G	ENSP00000272233:p.Tyr34Cys		Somatic					p.Y34C	NM_004040.2	NP_004031.1	WXS	Illumina GAIIx	Phase_I	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	493	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	34					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.101A>G	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042397	0.55003	.	.	ENSG00000143878	ENST00000272233	T	0.73047	-0.71	5.41	5.41	0.78517	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	D	0.85869	0.5797	H	0.94698	3.57	0.80722	D	1	P	0.49185	0.92	P	0.54706	0.759	D	0.89823	0.3990	10	0.72032	D	0.01	-15.6521	15.7548	0.78015	1.0:0.0:0.0:0.0	.	34	P62745	RHOB_HUMAN	C	34	ENSP00000272233:Y34C	ENSP00000272233:Y34C	Y	+	2	0	RHOB	20510808	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	9.126000	0.94411	2.187000	0.69744	0.533000	0.62120	TAC		0.637	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		14	51	0	0	0	1	0	14	51				
CIDECP	152302	broad.mit.edu	37	3	10059619	10059619	+	RNA	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:10059619C>T	ENST00000432401.1	-	0	505									cell death-inducing DFFA-like effector c pseudogene																		TCAGACAGGTCGGGATGAGGG	0.607																																						ENST00000432401.1																			0																																																			152302							g.chr3:10059619C>T	AF279614		3p25.3	2007-07-26			ENSG00000186162	ENSG00000186162			24230	pseudogene	pseudogene							Standard	NR_002786		Approved	CICE			OTTHUMG00000155323		3.37:g.10059619C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	505	-									RNA	SNP	ENST00000432401.1	37																																																																																						0.607	CIDECP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339463.1			7	1118	0	0	0	1	0	7	1118				
MKNK1	8569	broad.mit.edu	37	1	47024441	47024441	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:47024441C>T	ENST00000371946.4	-	14	1367	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	MKNK1_ENST00000371944.4_Missense_Mutation_p.A266T|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A361T|MKNK1_ENST00000428112.2_Missense_Mutation_p.R346H|MKNK1_ENST00000341183.5_Missense_Mutation_p.R346H	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	402					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A402P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCCTCAGCTGCGAAGAGCGTC	0.592																																						ENST00000371946.4																			1	Substitution - Missense(1)	p.A402P(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13						c.(1204-1206)Gca>Aca		MAP kinase interacting serine/threonine kinase 1							77.0	72.0	73.0					1																	47024441		2203	4300	6503	SO:0001583	missense	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47024441C>T	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1204G>A	1.37:g.47024441C>T	ENSP00000361014:p.Ala402Thr		Somatic				MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A361T|MKNK1_ENST00000371944.4_Missense_Mutation_p.A266T|MKNK1_ENST00000341183.5_Missense_Mutation_p.R346H|MKNK1_ENST00000428112.2_Missense_Mutation_p.R346H	p.A402T	NM_003684.5	NP_003675.2	WXS	Illumina GAIIx	Phase_I	Q9BUB5	MKNK1_HUMAN			14	1367	-	Acute lymphoblastic leukemia(166;0.155)		402					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	c.1204G>A	CCDS538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.522162|5.522162	0.96416|0.96416	.|.	.|.	ENSG00000079277|ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944;ENST00000524749|ENST00000341183;ENST00000428112	T;T;T|T;T	0.71579|0.71817	-0.24;-0.58;0.07|-0.6;-0.6	5.47|5.47	5.47|5.47	0.80525|0.80525	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76983|0.76983	0.4064|0.4064	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;D;D|P;P	0.89917|0.45126	1.0;1.0;1.0|0.768;0.851	D;D;D|B;B	0.91635|0.43728	0.984;0.999;0.999|0.247;0.429	T|T	0.79009|0.79009	-0.1978|-0.1978	10|9	0.72032|0.40728	D|T	0.01|0.16	-23.5516|-23.5516	18.3144|18.3144	0.90215|0.90215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	266;361;402|251;346	Q7Z319;Q9BUB5-2;Q9BUB5|B4DQK5;Q9BUB5-3	.;.;MKNK1_HUMAN|.;.	T|H	402;361;266;84|346	ENSP00000361014:A402T;ENSP00000361013:A361T;ENSP00000361012:A266T|ENSP00000339573:R346H;ENSP00000411135:R346H	ENSP00000361012:A266T|ENSP00000339573:R346H	A|R	-|-	1|2	0|0	MKNK1|MKNK1	46797028|46797028	1.000000|1.000000	0.71417|0.71417	0.609000|0.609000	0.28983|0.28983	0.901000|0.901000	0.52897|0.52897	6.057000|6.057000	0.71119|0.71119	2.556000|2.556000	0.86216|0.86216	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.592	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		6	478	0	0	0	1	0	6	478				
GSTM1	2944	broad.mit.edu	37	1	110230835	110230835	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:110230835G>A	ENST00000309851.5	+	2	134	c.80G>A	c.(79-81)aGc>aAc	p.S27N	GSTM1_ENST00000483399.2_Missense_Mutation_p.S27N|GSTM1_ENST00000349334.3_Missense_Mutation_p.S27N|GSTM1_ENST00000369823.2_Missense_Mutation_p.S27N|GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000490021.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369819.2_Missense_Mutation_p.S27N	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	27	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Azathioprine(DB00993)|Busulfan(DB01008)|Carboplatin(DB00958)|Cisplatin(DB00515)|Glutathione(DB00143)|Oxaliplatin(DB00526)	ACAGACTCAAGCTATGAGGAA	0.597									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000309851.5																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(79-81)aGc>aAc		glutathione S-transferase mu 1	Glutathione(DB00143)						97.0	83.0	89.0					1																	110230835		1640	2302	3942	SO:0001583	missense	2944	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	incl.: Familial Head and Neck Cancer; ;AIMAH, Cushing disease, Adrenal, Familial	xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr1:110230835G>A	BC036805	CCDS809.1, CCDS810.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134184	ENSG00000134184	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4632	protein-coding gene	gene with protein product		138350	"""glutathione S-transferase M1"""	GST1			Standard	NM_000561		Approved	MU, H-B	uc001dyk.3	P09488	OTTHUMG00000011635	ENST00000309851.5:c.80G>A	1.37:g.110230835G>A	ENSP00000311469:p.Ser27Asn		Somatic				GSTM1_ENST00000369819.2_Missense_Mutation_p.S27N|GSTM1_ENST00000369823.2_Missense_Mutation_p.S27N|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000349334.3_Missense_Mutation_p.S27N|GSTM1_ENST00000490021.2_Intron|GSTM1_ENST00000483399.2_Missense_Mutation_p.S27N	p.S27N	NM_000561.3	NP_000552.2	WXS	Illumina GAIIx	Phase_I	P09488	GSTM1_HUMAN		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	134	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	27			GST N-terminal.		Q5GHG0|Q6FH88|Q8TC98|Q9UC96	Missense_Mutation	SNP	ENST00000309851.5	37	c.80G>A	CCDS809.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381562	0.24944	.	.	ENSG00000134184	ENST00000369823;ENST00000349334;ENST00000309851;ENST00000369819	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	3.48	1.06	0.20224	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.878147	0.09496	N	0.794334	T	0.01254	0.0041	N	0.26092	0.79	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.10450	0.005;0.004	T	0.48422	-0.9037	10	0.25751	T	0.34	.	4.7675	0.13139	0.4084:0.0:0.5916:0.0	.	27;27	P09488-2;P09488	.;GSTM1_HUMAN	N	27	ENSP00000358838:S27N;ENSP00000234981:S27N;ENSP00000311469:S27N;ENSP00000358834:S27N	ENSP00000311469:S27N	S	+	2	0	GSTM1	110032358	0.086000	0.21541	0.043000	0.18650	0.476000	0.33039	0.646000	0.24797	0.207000	0.20607	0.306000	0.20318	AGC		0.597	GSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032151.2	NM_000561		7	554	0	0	0	1	0	7	554				
CYP2F1	1572	broad.mit.edu	37	19	41628000	41628000	+	Missense_Mutation	SNP	C	C	T	rs561045811		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:41628000C>T	ENST00000331105.2	+	6	856	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	262					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGATCTCCCCGGGACTTCAT	0.582													N|||	1	0.000199681	0.0	0.0	5008	,	,		13123	0.001		0.0	False		,,,				2504	0.0					ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(784-786)Cgg>Tgg		cytochrome P450, family 2, subfamily F, polypeptide 1							45.0	44.0	44.0					19																	41628000		2192	4288	6480	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41628000C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.784C>T	19.37:g.41628000C>T	ENSP00000333534:p.Arg262Trp		Somatic					p.R262W	NM_000774.3	NP_000765.2	WXS	Illumina GAIIx	Phase_I	P24903	CP2F1_HUMAN			6	856	+			262					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.784C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	N	13.00	2.107448	0.37145	.	.	ENSG00000197446	ENST00000331105	T	0.71461	-0.57	3.21	2.06	0.26882	.	0.184114	0.43579	U	0.000541	D	0.85699	0.5757	H	0.97540	4.025	0.30040	N	0.812726	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.77557	0.99;0.955;0.742	T	0.79339	-0.1844	10	0.87932	D	0	.	2.8258	0.05485	0.2786:0.556:0.0:0.1654	.	48;262;262	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	W	262	ENSP00000333534:R262W	ENSP00000333534:R262W	R	+	1	2	CYP2F1	46319840	0.268000	0.24133	0.984000	0.44739	0.382000	0.30200	0.832000	0.27490	1.641000	0.50575	0.398000	0.26397	CGG		0.582	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			4	108	0	0	0	1	0	4	108				
KDM5B	10765	broad.mit.edu	37	1	202698970	202698970	+	Silent	SNP	C	C	T	rs374839807		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:202698970C>T	ENST00000367265.3	-	26	5526	c.4362G>A	c.(4360-4362)gaG>gaA	p.E1454E	KDM5B_ENST00000367264.2_Silent_p.E1490E	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1454					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CATAGCTACGCTCTCTCTCTA	0.468																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4360-4362)gaG>gaA		lysine (K)-specific demethylase 5B		C		0,4406		0,0,2203	243.0	226.0	232.0		4362	-0.7	0.8	1		232	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDM5B	NM_006618.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1454/1545	202698970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202698970C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4362G>A	1.37:g.202698970C>T			Somatic				KDM5B_ENST00000367264.2_Silent_p.E1490E	p.E1454E	NM_006618.3	NP_006609.3	WXS	Illumina GAIIx	Phase_I	Q9UGL1	KDM5B_HUMAN			26	5526	-			1454					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.4362G>A	CCDS30974.1																																																																																				0.468	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		6	830	0	0	0	1	0	6	830				
LEFTY2	7044	broad.mit.edu	37	1	226125197	226125197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:226125197G>A	ENST00000366820.5	-	4	1393	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Nonsense_Mutation_p.Q315*|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	349					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CTGCACTTCTGCACCCTCATG	0.617																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1045-1047)Cag>Tag		left-right determination factor 2							57.0	56.0	56.0					1																	226125197		2203	4300	6503	SO:0001587	stop_gained	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125197G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.1045C>T	1.37:g.226125197G>A	ENSP00000355785:p.Gln349*		Somatic				LEFTY2_ENST00000420304.2_Nonsense_Mutation_p.Q315*|RP4-559A3.6_ENST00000513672.1_RNA	p.Q349*	NM_003240.3	NP_003231.2	WXS	Illumina GAIIx	Phase_I	O00292	LFTY2_HUMAN			4	1393	-	Breast(184;0.197)		349					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Nonsense_Mutation	SNP	ENST00000366820.5	37	c.1045C>T	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	40	8.306710	0.98752	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	.	.	.	5.21	2.08	0.27032	.	0.321794	0.34133	N	0.004230	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	7.1748	0.25738	0.0:0.2757:0.452:0.2723	.	.	.	.	X	315;349	.	ENSP00000355785:Q349X	Q	-	1	0	LEFTY2	224191820	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.912000	0.39946	1.295000	0.44724	0.561000	0.74099	CAG		0.617	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		7	820	0	0	0	1	0	7	820				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.e19-2		oxysterol binding protein-like 3							72.0	71.0	71.0					7																	24854824		2203	4300	6503	SO:0001630	splice_region_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854824T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2028-2A>T	7.37:g.24854824T>A			Somatic				OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site		NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			19	2479	-								A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Splice_Site	SNP	ENST00000313367.2	37		CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899311	0.91962	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.387	0.66953	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL3	24821349	1.000000	0.71417	0.111000	0.21465	0.961000	0.63080	8.037000	0.88933	1.876000	0.54355	0.379000	0.24179	.		0.378	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		Intron	5	231	0	0	0	1	0	5	231				
AKAP6	9472	broad.mit.edu	37	14	33292997	33292997	+	Missense_Mutation	SNP	T	T	G	rs572782856		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:33292997T>G	ENST00000280979.4	+	13	6148	c.5978T>G	c.(5977-5979)tTt>tGt	p.F1993C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1993					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAACCAGGTTTAACAACAGA	0.428																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5977-5979)tTt>tGt		A kinase (PRKA) anchor protein 6							86.0	83.0	84.0					14																	33292997		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292997T>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5978T>G	14.37:g.33292997T>G	ENSP00000280979:p.Phe1993Cys		Somatic				AKAP6_ENST00000557272.1_Intron	p.F1993C	NM_004274.4	NP_004265.3	WXS	Illumina GAIIx	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6148	+	Breast(36;0.0388)|Prostate(35;0.15)		1993					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5978T>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	2.545	-0.305380	0.05495	.	.	ENSG00000151320	ENST00000280979	T	0.43294	0.95	6.11	3.72	0.42706	.	0.986499	0.08283	N	0.969709	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.24333	-1.0163	10	0.56958	D	0.05	0.1168	1.5171	0.02508	0.1409:0.1556:0.1471:0.5564	.	1993	Q13023	AKAP6_HUMAN	C	1993	ENSP00000280979:F1993C	ENSP00000280979:F1993C	F	+	2	0	AKAP6	32362748	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	-0.447000	0.06828	0.524000	0.28502	0.533000	0.62120	TTT		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	978	0	0	0	1	0	8	978				
COG8	84342	broad.mit.edu	37	16	69368472	69368472	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:69368472C>T	ENST00000306875.4	-	3	1479	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	COG8_ENST00000562081.1_Silent_p.V455V|RP11-343C2.12_ENST00000562949.1_Silent_p.V101V	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	455					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCGCCAGGGCCACAGGGCAGC	0.572																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1363-1365)gtG>gtA		component of oligomeric golgi complex 8							52.0	49.0	50.0					16																	69368472		2198	4300	6498	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69368472C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1365G>A	16.37:g.69368472C>T			Somatic				COG8_ENST00000562081.1_Silent_p.V455V	p.V455V	NM_032382.4	NP_115758.3	WXS	Illumina GAIIx	Phase_I	Q96MW5	COG8_HUMAN			3	1479	-			455					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.1365G>A	CCDS10876.1																																																																																				0.572	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		40	98	0	0	0	1	0	40	98				
PCDHGC3	5098	broad.mit.edu	37	5	140855730	140855730	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140855730T>C	ENST00000308177.3	+	1	151	c.47T>C	c.(46-48)gTa>gCa	p.V16A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	16					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGGGAGGGTAGTGGGAGTT	0.562																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(46-48)gTa>gCa									128.0	139.0	135.0					5																	140855730		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140855730T>C	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.47T>C	5.37:g.140855730T>C	ENSP00000312070:p.Val16Ala		Somatic				PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V16A	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	151	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.47T>C	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650366	0.47362	.	.	ENSG00000240184	ENST00000308177	T	0.48201	0.82	5.65	4.28	0.50868	.	.	.	.	.	T	0.31167	0.0788	N	0.14661	0.345	0.22819	N	0.998696	B;B	0.12013	0.001;0.005	B;B	0.17098	0.002;0.017	T	0.20240	-1.0281	9	0.41790	T	0.15	.	9.6384	0.39824	0.0:0.1037:0.0:0.8963	.	16;16	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	A	16	ENSP00000312070:V16A	ENSP00000312070:V16A	V	+	2	0	PCDHGC3	140835914	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.900000	0.39828	0.948000	0.37687	0.533000	0.62120	GTA		0.562	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		9	537	0	0	0	1	0	9	537				
RPL3L	6123	broad.mit.edu	37	16	1995916	1995916	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:1995916A>G	ENST00000268661.7	-	8	1061	c.967T>C	c.(967-969)Tac>Cac	p.Y323H	MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000399753.2_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	323					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTCCCCGTAGTGGGGGAAG	0.597																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(967-969)Tac>Cac		ribosomal protein L3-like							110.0	95.0	100.0					16																	1995916		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1995916A>G	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.967T>C	16.37:g.1995916A>G	ENSP00000268661:p.Tyr323His		Somatic					p.Y323H	NM_005061.2	NP_005052.1	WXS	Illumina GAIIx	Phase_I	Q92901	RL3L_HUMAN			8	1061	-			323						Missense_Mutation	SNP	ENST00000268661.7	37	c.967T>C	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642214	0.47153	.	.	ENSG00000140986	ENST00000268661	T	0.62364	0.03	4.25	4.25	0.50352	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91150	0.4952	10	0.87932	D	0	-19.9156	12.6232	0.56616	1.0:0.0:0.0:0.0	.	323	Q92901	RL3L_HUMAN	H	323	ENSP00000268661:Y323H	ENSP00000268661:Y323H	Y	-	1	0	RPL3L	1935917	1.000000	0.71417	0.991000	0.47740	0.013000	0.08279	8.816000	0.91979	1.895000	0.54865	0.460000	0.39030	TAC		0.597	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		3	48	0	0	0	1	0	3	48				
PDIK1L	149420	broad.mit.edu	37	1	26448784	26448784	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:26448784T>C	ENST00000374271.4	+	4	1029	c.742T>C	c.(742-744)Tgg>Cgg	p.W248R	PDIK1L_ENST00000374269.1_Missense_Mutation_p.W248R	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GATTATCATCTGGGCAATGCT	0.443																																						ENST00000374271.4																			0				large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(742-744)Tgg>Cgg		PDLIM1 interacting kinase 1 like							85.0	85.0	85.0					1																	26448784		2203	4300	6503	SO:0001583	missense	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26448784T>C	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.742T>C	1.37:g.26448784T>C	ENSP00000363389:p.Trp248Arg		Somatic				PDIK1L_ENST00000374269.1_Missense_Mutation_p.W248R	p.W248R	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	WXS	Illumina GAIIx	Phase_I	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	4	1029	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	248			Protein kinase.		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	c.742T>C	CCDS274.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457572	0.63401	.	.	ENSG00000175087	ENST00000374271;ENST00000374269	T;T	0.22743	1.94;1.94	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	L	0.47016	1.485	0.45621	D	0.998551	D	0.76494	0.999	D	0.77557	0.99	T	0.05632	-1.0873	9	.	.	.	-11.1686	15.8236	0.78678	0.0:0.0:0.0:1.0	.	248	Q8N165	PDK1L_HUMAN	R	248	ENSP00000363389:W248R;ENSP00000363387:W248R	.	W	+	1	0	PDIK1L	26321371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.219000	0.72066	0.533000	0.62120	TGG		0.443	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		14	1519	0	0	0	1	0	14	1519				
HAUS6	54801	broad.mit.edu	37	9	19050305	19050305	+	IGR	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:19050305C>T	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Silent_p.H216H	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						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)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTATTTCCCACTACCAGTGCA	0.483																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(646-648)caC>caT		Ras-related GTP binding A							130.0	122.0	125.0					9																	19050305		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050305C>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050305C>T			Somatic					p.H216H	NM_006570.4	NP_006561.1	WXS	Illumina GAIIx	Phase_I	Q7L523	RRAGA_HUMAN			1	934	+			216					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	c.648C>T	CCDS6489.1																																																																																				0.483	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	177	0	0	0	1	0	4	177				
FRMD4B	23150	broad.mit.edu	37	3	69244181	69244181	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:69244181T>C	ENST00000398540.3	-	16	1563	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G	FRMD4B_ENST00000542259.1_Missense_Mutation_p.S440G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.S146G	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	494					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ACTTCTTCACTCGGCAGCAAG	0.448																																						ENST00000542259.1																			0				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(1318-1320)Agt>Ggt		FERM domain containing 4B							85.0	77.0	80.0					3																	69244181		1939	4156	6095	SO:0001583	missense	23150					cytoplasm|cytoskeleton	binding	g.chr3:69244181T>C	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1480A>G	3.37:g.69244181T>C	ENSP00000381549:p.Ser494Gly		Somatic				FRMD4B_ENST00000398540.3_Missense_Mutation_p.S494G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.S146G	p.S440G			WXS	Illumina GAIIx	Phase_I	Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	17	1769	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	494					Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	c.1318A>G	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140155	0.37825	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.83673	-1.75;-1.75	5.62	5.62	0.85841	.	0.246105	0.49916	D	0.000134	T	0.73450	0.3588	N	0.19112	0.55	0.28792	N	0.899273	B;B	0.21147	0.052;0.0	B;B	0.24701	0.055;0.003	T	0.65274	-0.6208	10	0.32370	T	0.25	-12.9249	14.6957	0.69121	0.0:0.0:0.0:1.0	.	338;494	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	G	494;440;146	ENSP00000381549:S494G;ENSP00000437658:S440G	ENSP00000381549:S494G	S	-	1	0	FRMD4B	69326871	0.964000	0.33143	0.848000	0.33437	0.895000	0.52256	3.986000	0.56937	2.267000	0.75376	0.477000	0.44152	AGT		0.448	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			3	71	0	0	0	1	0	3	71				
KIAA1279	26128	broad.mit.edu	37	10	70776071	70776071	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:70776071G>A	ENST00000361983.4	+	7	1867	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	589					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GCATCCTGAGGCCGCCCAGGA	0.393																																						ENST00000361983.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						c.(1765-1767)Gcc>Acc		KIAA1279							61.0	62.0	62.0					10																	70776071		2203	4300	6503	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70776071G>A	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1765G>A	10.37:g.70776071G>A	ENSP00000354848:p.Ala589Thr		Somatic					p.A589T	NM_015634.3	NP_056449.1	WXS	Illumina GAIIx	Phase_I	Q96EK5	KBP_HUMAN			7	1867	+			589					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.1765G>A	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093548	0.76756	.	.	ENSG00000198954	ENST00000361983	T	0.48522	0.81	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	P	0.60012	0.867	T	0.54443	-0.8293	10	0.22706	T	0.39	-22.8773	19.6895	0.95993	0.0:0.0:1.0:0.0	.	589	Q96EK5	KBP_HUMAN	T	589	ENSP00000354848:A589T	ENSP00000354848:A589T	A	+	1	0	KIAA1279	70446077	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.771000	0.98977	2.644000	0.89710	0.591000	0.81541	GCC		0.393	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		4	202	0	0	0	1	0	4	202				
ROR2	4920	broad.mit.edu	37	9	94486389	94486389	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:94486389A>G	ENST00000375708.3	-	9	2585	c.2387T>C	c.(2386-2388)tTc>tCc	p.F796S	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	796	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCTGTGGGAAGGGCGGGGC	0.682																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2386-2388)tTc>tCc		receptor tyrosine kinase-like orphan receptor 2							48.0	55.0	53.0					9																	94486389		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486389A>G	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2387T>C	9.37:g.94486389A>G	ENSP00000364860:p.Phe796Ser		Somatic				ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.F796S	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	Q01974	ROR2_HUMAN			9	2585	-			796			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2387T>C	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508138	0.27036	.	.	ENSG00000169071	ENST00000375708	T	0.75938	-0.98	4.65	4.65	0.58169	.	0.000000	0.44097	D	0.000499	T	0.76723	0.4027	L	0.29908	0.895	0.58432	D	0.999998	D	0.71674	0.998	D	0.75484	0.986	T	0.72054	-0.4406	10	0.16420	T	0.52	.	14.2745	0.66170	1.0:0.0:0.0:0.0	.	796	Q01974	ROR2_HUMAN	S	796	ENSP00000364860:F796S	ENSP00000364860:F796S	F	-	2	0	ROR2	93526210	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.333000	0.59285	1.957000	0.56846	0.459000	0.35465	TTC		0.682	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			3	152	0	0	0	1	0	3	152				
SRC	6714	broad.mit.edu	37	20	36024642	36024642	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:36024642G>A	ENST00000373578.2	+	8	980	c.631G>A	c.(631-633)Gac>Aac	p.D211N	SRC_ENST00000445403.1_Missense_Mutation_p.D211N|SRC_ENST00000373567.2_Missense_Mutation_p.D211N|SRC_ENST00000358208.4_Missense_Mutation_p.D211N|SRC_ENST00000373558.2_Missense_Mutation_p.D217N|SRC_ENST00000360723.4_Missense_Mutation_p.D217N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	211	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.D211N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CCGCAAGCTGGACAGCGGCGG	0.642																																						ENST00000373578.2																			1	Substitution - Missense(1)	p.D211N(1)	kidney(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(631-633)Gac>Aac		v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	Dasatinib(DB01254)						83.0	78.0	80.0					20																	36024642		2203	4300	6503	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36024642G>A	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.631G>A	20.37:g.36024642G>A	ENSP00000362680:p.Asp211Asn		Somatic				SRC_ENST00000373558.2_Missense_Mutation_p.D217N|SRC_ENST00000445403.1_Missense_Mutation_p.D211N|SRC_ENST00000373567.2_Missense_Mutation_p.D211N|SRC_ENST00000358208.4_Missense_Mutation_p.D211N|SRC_ENST00000360723.4_Missense_Mutation_p.D217N	p.D211N	NM_198291.1	NP_938033.1	WXS	Illumina GAIIx	Phase_I	P12931	SRC_HUMAN			8	980	+		Myeloproliferative disorder(115;0.00878)	211			SH2.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.631G>A	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	g	37	6.218148	0.97385	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.24	5.24	0.73138	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.86420	2.815	0.80722	D	1	P	0.36330	0.548	B	0.40864	0.342	D	0.92717	0.6188	10	0.87932	D	0	.	16.3664	0.83331	0.0:0.0:1.0:0.0	.	211	P12931	SRC_HUMAN	N	211;211;217;211;211;217	ENSP00000408503:D211N;ENSP00000362680:D211N;ENSP00000353950:D217N;ENSP00000350941:D211N;ENSP00000362668:D211N;ENSP00000362659:D217N	ENSP00000350941:D211N	D	+	1	0	SRC	35458056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.730000	0.93505	0.556000	0.70494	GAC		0.642	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		199	22	0	0	0	1	0	199	22				
PDZRN4	29951	broad.mit.edu	37	12	41966962	41966962	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:41966962A>T	ENST00000402685.2	+	10	2389	c.2381A>T	c.(2380-2382)aAa>aTa	p.K794I	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K534I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K536I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	794							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCTCCACCAAAGCCAAAACC	0.502																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1600-1602)aAa>aTa		PDZ domain containing ring finger 4							134.0	134.0	134.0					12																	41966962		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966962A>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2381A>T	12.37:g.41966962A>T	ENSP00000384197:p.Lys794Ile		Somatic				PDZRN4_ENST00000402685.2_Missense_Mutation_p.K794I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K536I	p.K534I			WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			10	1989	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	794			Poly-Glu.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1601A>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	2.705	-0.270175	0.05716	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.47869	0.83;0.83;0.83	5.13	-1.88	0.07713	.	2.329950	0.01418	N	0.014274	T	0.51753	0.1693	M	0.68317	2.08	0.25980	N	0.982386	P;B;B	0.51351	0.944;0.137;0.323	P;B;B	0.47206	0.541;0.166;0.077	T	0.51371	-0.8714	10	0.62326	D	0.03	-15.6859	6.4218	0.21748	0.6083:0.119:0.2726:0.0	.	794;534;536	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	I	794;536;534	ENSP00000384197:K794I;ENSP00000439990:K536I;ENSP00000298919:K534I	ENSP00000298919:K534I	K	+	2	0	PDZRN4	40253229	0.187000	0.23238	0.324000	0.25361	0.060000	0.15804	1.007000	0.29860	-0.093000	0.12396	0.528000	0.53228	AAA		0.502	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		6	594	0	0	0	1	0	6	594				
ANKHD1	54882	broad.mit.edu	37	5	139915039	139915039	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:139915039C>A	ENST00000360839.2	+	30	7097	c.6943C>A	c.(6943-6945)Ctg>Atg	p.L2315M	ANKHD1_ENST00000544120.1_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L2315M|ANKHD1_ENST00000297183.6_Missense_Mutation_p.L2315M	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGGTTTTCCTGCAAGGGCC	0.507																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(6943-6945)Ctg>Atg		ankyrin repeat and KH domain containing 1							99.0	95.0	96.0					5																	139915039		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139915039C>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6943C>A	5.37:g.139915039C>A	ENSP00000354085:p.Leu2315Met		Somatic				ANKHD1_ENST00000360839.2_Missense_Mutation_p.L2315M|ANKHD1_ENST00000544120.1_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L2315M	p.L2315M	NM_020690.5	NP_065741.3	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		30	7067	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6943C>A	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.956312|3.956312	0.73902|0.73902	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000532219;ENST00000437495|ENST00000435794	T;T;T;T;T;T|.	0.68903|.	-0.31;-0.36;1.75;1.75;-0.36;0.73|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.080371|.	0.51477|.	D|.	0.000085|.	T|T	0.69205|0.69205	0.3085|0.3085	L|L	0.46157|0.46157	1.445|1.445	0.45025|0.45025	D|D	0.99804|0.99804	D;D;D|.	0.71674|.	0.998;0.998;0.995|.	D;D;D|.	0.83275|.	0.996;0.994;0.987|.	T|T	0.64441|0.64441	-0.6407|-0.6407	10|5	0.56958|.	D|.	0.05|.	.|.	19.0911|19.0911	0.93227|0.93227	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2315;2315;2315|.	E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;ANKH1_HUMAN|.	M|H	2315;2315;2315;971;837;2315;326|805	ENSP00000354085:L2315M;ENSP00000297183:L2315M;ENSP00000393204:L971M;ENSP00000390034:L837M;ENSP00000432016:L2315M;ENSP00000396882:L326M|.	ENSP00000396882:L326M|.	L|P	+|+	1|2	2|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139895223|139895223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.823000|3.823000	0.55715|0.55715	2.746000|2.746000	0.94184|0.94184	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.507	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		6	172	1	0	0.0293803	1	0.0304743	6	172				
MRPL14	64928	broad.mit.edu	37	6	44081909	44081909	+	Missense_Mutation	SNP	G	G	A	rs142865447		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:44081909G>A	ENST00000372014.3	-	3	240	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	37					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			ACTCGTACCCGCGTCATCTTC	0.547																																						ENST00000372014.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(109-111)Cgg>Tgg		mitochondrial ribosomal protein L14		G	TRP/ARG	0,4406		0,0,2203	160.0	159.0	159.0		109	4.0	0.9	6	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	no	missense	MRPL14	NM_032111.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	37/146	44081909	2,13004	2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44081909G>A	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.109C>T	6.37:g.44081909G>A	ENSP00000361084:p.Arg37Trp		Somatic					p.R37W	NM_032111.2	NP_115487.2	WXS	Illumina GAIIx	Phase_I	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		3	240	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		37					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.109C>T	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100153	0.56183	0.0	2.33E-4	ENSG00000180992	ENST00000372014	.	.	.	5.79	3.95	0.45737	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80571	-0.1323	9	0.66056	D	0.02	-4.502	10.4608	0.44578	0.0699:0.0:0.7973:0.1329	.	37	Q6P1L8	RM14_HUMAN	W	37	.	ENSP00000361084:R37W	R	-	1	2	MRPL14	44189887	1.000000	0.71417	0.881000	0.34555	0.149000	0.21700	5.109000	0.64615	1.444000	0.47605	0.561000	0.74099	CGG		0.547	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		11	2041	0	0	0	1	0	11	2041				
SCFD2	152579	broad.mit.edu	37	4	54140063	54140063	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:54140063G>A	ENST00000401642.3	-	4	1374	c.1241C>T	c.(1240-1242)gCt>gTt	p.A414V	SCFD2_ENST00000388940.4_Missense_Mutation_p.A414V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	414					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAACGTTTGAGCTGTGGCCAG	0.493																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1240-1242)gCt>gTt		sec1 family domain containing 2							116.0	108.0	111.0					4																	54140063		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54140063G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1241C>T	4.37:g.54140063G>A	ENSP00000384182:p.Ala414Val		Somatic				SCFD2_ENST00000388940.4_Missense_Mutation_p.A414V	p.A414V	NM_152540.3	NP_689753.2	WXS	Illumina GAIIx	Phase_I	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		4	1374	-			414					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1241C>T	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	0.159	-1.083273	0.01888	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.42131	1.0;0.98	4.51	0.78	0.18556	.	0.505906	0.19340	N	0.116675	T	0.12050	0.0293	N	0.01668	-0.77	0.30062	N	0.8108	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37384	-0.9708	10	0.02654	T	1	.	7.5138	0.27590	0.7246:0.0:0.2754:0.0	.	414;414	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	V	414	ENSP00000384182:A414V;ENSP00000373592:A414V	ENSP00000373592:A414V	A	-	2	0	SCFD2	53834820	0.991000	0.36638	0.817000	0.32601	0.439000	0.31926	4.048000	0.57390	-0.037000	0.13646	0.563000	0.77884	GCT		0.493	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		10	230	0	0	0	1	0	10	230				
TBC1D26	353149	broad.mit.edu	37	17	15644464	15644464	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:15644464G>A	ENST00000437605.2	+	10	825	c.575G>A	c.(574-576)cGc>cAc	p.R192H	AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	192	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GACCTGAGCCGCATCACTGCC	0.592																																						ENST00000437605.2																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(574-576)cGc>cAc		TBC1 domain family, member 26							80.0	87.0	85.0					17																	15644464		2201	4299	6500	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15644464G>A		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.575G>A	17.37:g.15644464G>A	ENSP00000410111:p.Arg192His		Somatic				ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000580194.1_RNA	p.R192H	NM_178571.4	NP_848666.2	WXS	Illumina GAIIx	Phase_I	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	10	825	+			192			Rab-GAP TBC.		A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.575G>A	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.550169	0.00926	.	.	ENSG00000214946	ENST00000437605	T	0.04194	3.68	0.706	-1.41	0.08941	Rab-GAP/TBC domain (4);	0.744331	0.12707	N	0.445860	T	0.01835	0.0058	N	0.04508	-0.205	0.19945	N	0.999947	B	0.06786	0.001	B	0.06405	0.002	T	0.48269	-0.9050	9	0.13470	T	0.59	.	.	.	.	.	192	Q86UD7	TBC26_HUMAN	H	192	ENSP00000410111:R192H	ENSP00000410111:R192H	R	+	2	0	TBC1D26	15585189	1.000000	0.71417	0.015000	0.15790	0.007000	0.05969	1.099000	0.31013	-0.277000	0.09193	-0.624000	0.04008	CGC		0.592	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		4	200	0	0	0	1	0	4	200				
TRPC1	7220	broad.mit.edu	37	3	142499740	142499740	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:142499740C>T	ENST00000476941.1	+	6	1315	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	TRPC1_ENST00000273482.6_Missense_Mutation_p.R243W	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	277					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGCACAAGCCCGGAATTCTCG	0.383																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(727-729)Cgg>Tgg		transient receptor potential cation channel, subfamily C, member 1							91.0	89.0	90.0					3																	142499740		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499740C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.829C>T	3.37:g.142499740C>T	ENSP00000419313:p.Arg277Trp		Somatic				TRPC1_ENST00000476941.1_Missense_Mutation_p.R277W	p.R243W	NM_003304.4	NP_003295.1	WXS	Illumina GAIIx	Phase_I	P48995	TRPC1_HUMAN			5	1118	+			277					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.727C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689611	0.88735	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.63913	-0.07;-0.07	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.947	T	0.78275	-0.2267	10	0.87932	D	0	-19.4836	16.338	0.83073	0.1324:0.8676:0.0:0.0	.	277;243	P48995;P48995-2	TRPC1_HUMAN;.	W	277;243	ENSP00000419313:R277W;ENSP00000273482:R243W	ENSP00000273482:R243W	R	+	1	2	TRPC1	143982430	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.768000	0.68858	2.733000	0.93635	0.655000	0.94253	CGG		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		3	77	0	0	0	1	0	3	77				
IGSF3	3321	broad.mit.edu	37	1	117142688	117142688	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:117142688G>A	ENST00000369486.3	-	7	2669	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	IGSF3_ENST00000369483.1_Missense_Mutation_p.A655V|IGSF3_ENST00000318837.6_Missense_Mutation_p.A655V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	635	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGTGTCACTGGCTCGGCTGAT	0.612																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1903-1905)gCc>gTc		immunoglobulin superfamily, member 3							71.0	53.0	59.0					1																	117142688		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117142688G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1904C>T	1.37:g.117142688G>A	ENSP00000358498:p.Ala635Val		Somatic				IGSF3_ENST00000369483.1_Missense_Mutation_p.A655V|IGSF3_ENST00000318837.6_Missense_Mutation_p.A655V	p.A635V	NM_001007237.1	NP_001007238.1	WXS	Illumina GAIIx	Phase_I	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2669	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	635			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1904C>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939694	0.92526	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.01887	4.58;4.58;4.58	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.065330	0.64402	D	0.000010	T	0.06325	0.0163	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.26121	-1.0112	10	0.49607	T	0.09	-45.1168	15.3857	0.74699	0.0:0.0:1.0:0.0	.	655;635;655	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	V	635;655;655	ENSP00000358498:A635V;ENSP00000358495:A655V;ENSP00000321184:A655V	ENSP00000321184:A655V	A	-	2	0	IGSF3	116944211	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.235000	0.95353	2.472000	0.83506	0.455000	0.32223	GCC		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		6	249	0	0	0	1	0	6	249				
MUC16	94025	broad.mit.edu	37	19	9076861	9076861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9076861C>T	ENST00000397910.4	-	3	10788	c.10585G>A	c.(10585-10587)Gac>Aac	p.D3529N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3530	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTTACGTCCAGGATGCTC	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10585-10587)Gac>Aac		mucin 16, cell surface associated							243.0	232.0	236.0					19																	9076861		2130	4222	6352	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076861C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10585G>A	19.37:g.9076861C>T	ENSP00000381008:p.Asp3529Asn		Somatic					p.D3529N	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	10788	-			3530			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10585G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.137	-0.397659	0.04899	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	1.76	-3.51	0.04696	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.41875	-0.9484	8	0.87932	D	0	.	8.1048	0.30879	0.0:0.491:0.0:0.509	.	3529	B5ME49	.	N	3529	ENSP00000381008:D3529N	ENSP00000381008:D3529N	D	-	1	0	MUC16	8937861	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	-1.643000	0.01519	-1.786000	0.00637	GAC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	1740	0	0	0	1	0	9	1740				
ZFYVE20	64145	broad.mit.edu	37	3	15122299	15122299	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:15122299A>G	ENST00000253699.3	-	10	1464	c.851T>C	c.(850-852)cTt>cCt	p.L284P	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L284P|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Silent_p.T203T	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	284	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTCCATGCAAAGTCGTAATTT	0.378																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(850-852)cTt>cCt		zinc finger, FYVE domain containing 20							154.0	157.0	156.0					3																	15122299		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15122299A>G	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.851T>C	3.37:g.15122299A>G	ENSP00000253699:p.Leu284Pro		Somatic				ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L284P|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Silent_p.T203T	p.L284P	NM_022340.2	NP_071735.2	WXS	Illumina GAIIx	Phase_I	Q9H1K0	RBNS5_HUMAN			10	1464	-			284			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.851T>C	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	9.730	1.161965	0.21538	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52754	0.65;0.65	5.47	2.9	0.33743	.	0.455157	0.24891	N	0.034769	T	0.27697	0.0681	N	0.22421	0.69	0.09310	N	1	P	0.38335	0.627	B	0.34489	0.184	T	0.08432	-1.0722	10	0.30078	T	0.28	-6.1955	7.5178	0.27610	0.5899:0.2771:0.0:0.133	.	284	Q9H1K0	RBNS5_HUMAN	P	284	ENSP00000253699:L284P;ENSP00000422551:L284P	ENSP00000253699:L284P	L	-	2	0	ZFYVE20	15097303	0.996000	0.38824	0.010000	0.14722	0.964000	0.63967	3.595000	0.54016	0.881000	0.35993	0.477000	0.44152	CTT		0.378	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		4	334	0	0	0	1	0	4	334				
SPTBN1	6711	broad.mit.edu	37	2	54895638	54895638	+	Missense_Mutation	SNP	G	G	A	rs374335221		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:54895638G>A	ENST00000356805.4	+	36	7308	c.7027G>A	c.(7027-7029)Ggc>Agc	p.G2343S		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2343					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTCCAGTCCCGGCAAGCGGGA	0.557																																						ENST00000356805.4																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(7027-7029)Ggc>Agc		spectrin, beta, non-erythrocytic 1		G	SER/GLY	0,4406		0,0,2203	37.0	36.0	37.0		7027	5.0	1.0	2		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPTBN1	NM_003128.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2343/2365	54895638	1,13005	2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54895638G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.7027G>A	2.37:g.54895638G>A	ENSP00000349259:p.Gly2343Ser		Somatic					p.G2343S	NM_003128.2	NP_003119.2	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		36	7308	+			2343					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.7027G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646057	0.29246	0.0	1.16E-4	ENSG00000115306	ENST00000356805	T	0.67865	-0.29	5.83	4.96	0.65561	.	0.127469	0.52532	D	0.000072	T	0.54271	0.1848	L	0.32530	0.975	0.80722	D	1	D;B	0.57571	0.98;0.313	P;B	0.44732	0.459;0.058	T	0.56950	-0.7894	10	0.05351	T	0.99	.	14.7862	0.69806	0.0687:0.0:0.9313:0.0	.	333;2343	B4DIF8;Q01082	.;SPTB2_HUMAN	S	2343	ENSP00000349259:G2343S	ENSP00000349259:G2343S	G	+	1	0	SPTBN1	54749142	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.538000	0.82048	1.486000	0.48398	0.655000	0.94253	GGC		0.557	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			9	338	0	0	0	1	0	9	338				
UBR1	197131	broad.mit.edu	37	15	43317077	43317077	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43317077G>A	ENST00000290650.4	-	25	2767	c.2689C>T	c.(2689-2691)Cgg>Tgg	p.R897W	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	897					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCTATTGCCCGCTCAAATACG	0.448																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(2689-2691)Cgg>Tgg		ubiquitin protein ligase E3 component n-recognin 1							203.0	189.0	194.0					15																	43317077		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43317077G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2689C>T	15.37:g.43317077G>A	ENSP00000290650:p.Arg897Trp		Somatic				UBR1_ENST00000382177.2_3'UTR	p.R897W	NM_174916.2	NP_777576.1	WXS	Illumina GAIIx	Phase_I	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	25	2767	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	897					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.2689C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021551	0.54576	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	T	0.66995	-0.24	5.25	3.24	0.37175	.	0.051662	0.85682	D	0.000000	T	0.71542	0.3352	L	0.53671	1.685	0.80722	D	1	B;D	0.89917	0.426;1.0	B;D	0.66979	0.048;0.948	T	0.68918	-0.5282	10	0.35671	T	0.21	-12.3773	6.691	0.23171	0.0915:0.0:0.5773:0.3312	.	897;897	B4DYL2;Q8IWV7	.;UBR1_HUMAN	W	897	ENSP00000290650:R897W	ENSP00000290650:R897W	R	-	1	2	UBR1	41104369	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	2.527000	0.45615	1.456000	0.47831	0.591000	0.81541	CGG		0.448	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	226	0	0	0	1	0	4	226				
CHD8	57680	broad.mit.edu	37	14	21873953	21873953	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:21873953A>G	ENST00000557364.1	-	15	3241	c.2978T>C	c.(2977-2979)tTc>tCc	p.F993S	CHD8_ENST00000399982.2_Missense_Mutation_p.F993S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.F714S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	993	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.F993S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGGTTCCAAGAAATGAAGCAA	0.398																																						ENST00000399982.2																			1	Substitution - Missense(1)	p.F993S(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2977-2979)tTc>tCc		chromodomain helicase DNA binding protein 8							185.0	177.0	179.0					14																	21873953		1852	4103	5955	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21873953A>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2978T>C	14.37:g.21873953A>G	ENSP00000451601:p.Phe993Ser		Somatic				CHD8_ENST00000430710.3_Missense_Mutation_p.F714S|CHD8_ENST00000557364.1_Missense_Mutation_p.F993S|CHD8_ENST00000555962.1_Intron	p.F993S	NM_001170629.1	NP_001164100.1	WXS	Illumina GAIIx	Phase_I	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	14	3042	-	all_cancers(95;0.00121)		993			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2978T>C	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853131	0.91355	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.97529	-4.42;-4.42;-4.42	5.43	5.43	0.79202	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99064	0.9679	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99177	1.0866	10	0.87932	D	0	-17.2678	14.6032	0.68456	1.0:0.0:0.0:0.0	.	993;714	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	S	714;993;713;993	ENSP00000406288:F714S;ENSP00000382863:F993S;ENSP00000451601:F993S	ENSP00000262707:F713S	F	-	2	0	CHD8	20943793	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.139000	0.94554	2.281000	0.76405	0.528000	0.53228	TTC		0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		652	123	0	0	0	1	0	652	123				
ZNF546	339327	broad.mit.edu	37	19	40520038	40520038	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:40520038C>A	ENST00000347077.4	+	7	1077	c.861C>A	c.(859-861)caC>caA	p.H287Q	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.H261Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCATTATCACCTTACTGAAC	0.433																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(859-861)caC>caA		zinc finger protein 546							104.0	104.0	104.0					19																	40520038		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520038C>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.861C>A	19.37:g.40520038C>A	ENSP00000339823:p.His287Gln		Somatic				ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.H261Q	p.H287Q	NM_178544.3	NP_848639.2	WXS	Illumina GAIIx	Phase_I	Q86UE3	ZN546_HUMAN			7	1077	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		287					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.861C>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	1.394	-0.579859	0.03854	.	.	ENSG00000187187	ENST00000347077	T	0.13196	2.61	2.61	-0.991	0.10235	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	N	0.21617	0.685	0.09310	N	1	B;P	0.41475	0.193;0.751	B;B	0.26094	0.011;0.066	T	0.40327	-0.9569	9	0.12103	T	0.63	.	7.1258	0.25471	0.0:0.6466:0.0:0.3534	.	261;287	B3KVL3;Q86UE3	.;ZN546_HUMAN	Q	287	ENSP00000339823:H287Q	ENSP00000339823:H287Q	H	+	3	2	ZNF546	45211878	0.000000	0.05858	0.138000	0.22173	0.995000	0.86356	-3.778000	0.00368	-0.126000	0.11682	0.655000	0.94253	CAC		0.433	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		7	303	1	0	0.00400662	1	0.00420803	7	303				
KIAA0247	9766	broad.mit.edu	37	14	70170292	70170292	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:70170292G>A	ENST00000342745.4	+	3	615	c.302G>A	c.(301-303)aGc>aAc	p.S101N		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	101	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S101N(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGATTAGCTGCCGTCTC	0.493																																						ENST00000342745.4																			1	Substitution - Missense(1)	p.S101N(1)	kidney(1)	endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10						c.(301-303)aGc>aAc		KIAA0247							84.0	83.0	83.0					14																	70170292		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70170292G>A	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.302G>A	14.37:g.70170292G>A	ENSP00000344424:p.Ser101Asn		Somatic					p.S101N	NM_014734.3	NP_055549.1	WXS	Illumina GAIIx	Phase_I	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	3	615	+			101			Sushi.			Missense_Mutation	SNP	ENST00000342745.4	37	c.302G>A	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907117	0.72868	.	.	ENSG00000100647	ENST00000342745	T	0.66815	-0.23	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.63428	1.95	0.58432	D	0.999996	D	0.71674	0.998	D	0.66847	0.947	T	0.74109	-0.3771	10	0.29301	T	0.29	-21.1053	16.5023	0.84260	0.0:0.1307:0.8693:0.0	.	101	Q92537	K0247_HUMAN	N	101	ENSP00000344424:S101N	ENSP00000344424:S101N	S	+	2	0	KIAA0247	69240045	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.207000	0.72159	2.788000	0.95919	0.655000	0.94253	AGC		0.493	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		188	27	0	0	0	1	0	188	27				
ADAMTSL4	54507	broad.mit.edu	37	1	150527938	150527938	+	Missense_Mutation	SNP	G	G	A	rs370381933	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150527938G>A	ENST00000369038.2	+	6	1469	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R423Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R423Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R446Q			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	423					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGAACTGCCGGCCCCGTGGC	0.617													G|||	6	0.00119808	0.0	0.0	5008	,	,		21193	0.0		0.0	False		,,,				2504	0.0061					ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1267-1269)cGg>cAg		ADAMTS-like 4							78.0	69.0	72.0					1																	150527938		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150527938G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1268G>A	1.37:g.150527938G>A	ENSP00000358034:p.Arg423Gln		Somatic				ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R446Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R423Q|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R423Q	p.R423Q	NM_019032.4	NP_061905.2	WXS	Illumina GAIIx	Phase_I	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1504	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		423					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1268G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084319	0.94100	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.67523	0.28;0.28;-0.27;0.28	4.69	4.69	0.59074	.	.	.	.	.	T	0.68081	0.2962	L	0.39633	1.23	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;P;D;D	0.85130	0.996;0.863;0.994;0.997	T	0.66551	-0.5895	9	0.35671	T	0.21	.	15.1631	0.72801	0.0:0.0:1.0:0.0	.	446;446;423;423	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Q	423;423;446;423	ENSP00000358037:R423Q;ENSP00000271643:R423Q;ENSP00000358035:R446Q;ENSP00000358034:R423Q	ENSP00000271643:R423Q	R	+	2	0	ADAMTSL4	148794562	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	8.343000	0.90052	2.426000	0.82243	0.561000	0.74099	CGG		0.617	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		23	2439	0	0	0	1	0	23	2439				
WDR86	349136	broad.mit.edu	37	7	151097232	151097232	+	Missense_Mutation	SNP	C	C	T	rs376051493		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:151097232C>T	ENST00000334493.6	-	2	689	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.G87R	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	87										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACACTGCCCGGTCAGCACG	0.597																																						ENST00000334493.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(259-261)Ggg>Agg		WD repeat domain 86		C	ARG/GLY	0,4350		0,0,2175	46.0	49.0	48.0		259	5.1	0.9	7		48	1,8521		0,1,4260	no	missense	WDR86	NM_198285.2	125	0,1,6435	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	87/377	151097232	1,12871	2175	4261	6436	SO:0001583	missense	349136							g.chr7:151097232C>T	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.259G>A	7.37:g.151097232C>T	ENSP00000335522:p.Gly87Arg		Somatic				WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.G87R	p.G87R	NM_198285.2	NP_938026.2	WXS	Illumina GAIIx	Phase_I	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	689	-			87					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.259G>A	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686270	0.88639	0.0	1.17E-4	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.24350	1.86;1.86	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.55940	0.1952	M	0.82823	2.61	0.42438	D	0.992706	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.919;0.997	T	0.63668	-0.6585	9	0.87932	D	0	-26.137	17.1206	0.86701	0.0:1.0:0.0:0.0	.	87;87;45	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	R	87	ENSP00000335522:G87R;ENSP00000419162:G87R	ENSP00000335522:G87R	G	-	1	0	WDR86	150728165	0.999000	0.42202	0.936000	0.37596	0.984000	0.73092	5.669000	0.68081	2.370000	0.80446	0.585000	0.79938	GGG		0.597	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		6	860	0	0	0	1	0	6	860				
SLC4A8	9498	broad.mit.edu	37	12	51863545	51863545	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:51863545G>T	ENST00000453097.2	+	12	1714	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	SLC4A8_ENST00000394856.1_Silent_p.L446L|SLC4A8_ENST00000535225.2_Silent_p.L446L|SLC4A8_ENST00000514353.3_Silent_p.L446L|SLC4A8_ENST00000358657.3_Silent_p.L526L|SLC4A8_ENST00000546663.1_3'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGGGGGACTGCTTGGAGAAG	0.498																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1495-1497)ctG>ctT		solute carrier family 4, sodium bicarbonate cotransporter, member 8							200.0	178.0	185.0					12																	51863545		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51863545G>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1497G>T	12.37:g.51863545G>T			Somatic				SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000514353.3_Silent_p.L446L|SLC4A8_ENST00000535225.2_Silent_p.L446L|SLC4A8_ENST00000358657.3_Silent_p.L526L|SLC4A8_ENST00000394856.1_Silent_p.L446L	p.L499L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	WXS	Illumina GAIIx	Phase_I	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	12	1714	+			499						Silent	SNP	ENST00000453097.2	37	c.1497G>T	CCDS44890.1																																																																																				0.498	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		76	1082	1	0	3.28156e-27	1	3.65659e-27	76	1082				
FAM13C	220965	broad.mit.edu	37	10	61043124	61043124	+	Splice_Site	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:61043124T>C	ENST00000373868.2	-	6	678	c.591A>G	c.(589-591)gcA>gcG	p.A197A	FAM13C_ENST00000277705.6_Splice_Site_p.A218A|FAM13C_ENST00000442566.3_Splice_Site_p.A218A|FAM13C_ENST00000419214.2_Splice_Site_p.A197A|FAM13C_ENST00000435852.2_Splice_Site_p.A197A|RP11-443O13.3_ENST00000433249.1_RNA|FAM13C_ENST00000422313.2_Splice_Site_p.A197A|FAM13C_ENST00000468840.2_Splice_Site_p.A114A|FAM13C_ENST00000373867.3_Splice_Site_p.A114A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	197										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTATCTTACCTGCAGAATCTG	0.532																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.e7+1		family with sequence similarity 13, member C							165.0	155.0	158.0					10																	61043124		2203	4300	6503	SO:0001630	splice_region_variant	220965							g.chr10:61043124T>C	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.592+1A>G	10.37:g.61043124T>C			Somatic				FAM13C_ENST00000435852.2_Splice_Site_p.A197_splice|FAM13C_ENST00000373868.2_Splice_Site_p.A197_splice|FAM13C_ENST00000277705.6_Splice_Site_p.A218_splice|FAM13C_ENST00000442566.3_Splice_Site_p.A218_splice|FAM13C_ENST00000468840.2_Splice_Site_p.A114_splice|FAM13C_ENST00000419214.2_Splice_Site_p.A197_splice|FAM13C_ENST00000422313.2_Splice_Site_p.A197_splice	p.A114_splice	NM_001166698.1	NP_001160170.1	WXS	Illumina GAIIx	Phase_I	Q8NE31	FA13C_HUMAN			7	807	-			197					B7ZB77|Q5T631|Q6P2M3|Q99787	Splice_Site	SNP	ENST00000373868.2	37	c.343_splice	CCDS7255.1																																																																																				0.532	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		Silent	7	307	0	0	0	1	0	7	307				
PSPC1	55269	broad.mit.edu	37	13	20346514	20346514	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:20346514G>A	ENST00000338910.4	-	2	701	c.542C>T	c.(541-543)cCa>cTa	p.P181L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	181	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for paraspeckles localization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTCTCTACTGGACCAAACTG	0.478																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(541-543)cCa>cTa		paraspeckle component 1							115.0	109.0	111.0					13																	20346514		1938	4140	6078	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20346514G>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.542C>T	13.37:g.20346514G>A	ENSP00000343966:p.Pro181Leu		Somatic					p.P181L	NM_001042414.2	NP_001035879.1	WXS	Illumina GAIIx	Phase_I	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	2	701	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	181			RRM 2.|Sufficient for paraspeckles localization.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.542C>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033365	0.54896	.	.	ENSG00000121390	ENST00000338910;ENST00000422828;ENST00000427943	T;T	0.18174	2.23;2.23	5.88	5.88	0.94601	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.052435	0.85682	D	0.000000	T	0.29458	0.0734	M	0.70108	2.13	0.80722	D	1	B	0.22851	0.076	B	0.33620	0.167	T	0.03249	-1.1056	10	0.33141	T	0.24	-11.6731	20.2405	0.98372	0.0:0.0:1.0:0.0	.	181	Q8WXF1	PSPC1_HUMAN	L	181;121;181	ENSP00000343966:P181L;ENSP00000393069:P181L	ENSP00000343966:P181L	P	-	2	0	PSPC1	19244514	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.734000	0.62043	2.797000	0.96272	0.561000	0.74099	CCA		0.478	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			5	295	0	0	0	1	0	5	295				
MED1	5469	broad.mit.edu	37	17	37564497	37564497	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:37564497T>C	ENST00000300651.6	-	17	4200	c.3977A>G	c.(3976-3978)gAc>gGc	p.D1326G	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATCTGGCCGTCCAGTGGGTC	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3976-3978)gAc>gGc		mediator complex subunit 1							85.0	93.0	90.0					17																	37564497		2203	4299	6502	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564497T>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3977A>G	17.37:g.37564497T>C	ENSP00000300651:p.Asp1326Gly	HNSCC(31;0.082)	Somatic				MED1_ENST00000394287.3_Intron	p.D1326G	NM_004774.3	NP_004765.2	WXS	Illumina GAIIx	Phase_I	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4200	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1326			Interaction with TP53.|Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3977A>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	8.574	0.880676	0.17467	.	.	ENSG00000125686	ENST00000300651	T	0.32753	1.44	5.2	5.2	0.72013	.	.	.	.	.	T	0.17662	0.0424	N	0.08118	0	0.50632	D	0.999889	B	0.02656	0.0	B	0.01281	0.0	T	0.07404	-1.0774	9	0.23302	T	0.38	-10.0433	15.526	0.75905	0.0:0.0:0.0:1.0	.	1326	Q15648	MED1_HUMAN	G	1326	ENSP00000300651:D1326G	ENSP00000300651:D1326G	D	-	2	0	MED1	34818023	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	3.766000	0.55280	2.308000	0.77769	0.533000	0.62120	GAC		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		4	407	0	0	0	1	0	4	407				
CDK5RAP2	55755	broad.mit.edu	37	9	123215772	123215772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123215772G>A	ENST00000349780.4	-	21	2934	c.2755C>T	c.(2755-2757)Cag>Tag	p.Q919*	CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q919*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q887*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q919*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	919					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGGGCAGCCTGCCACCCAGGC	0.463																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2755-2757)Cag>Tag		CDK5 regulatory subunit associated protein 2							76.0	81.0	79.0					9																	123215772		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123215772G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2755C>T	9.37:g.123215772G>A	ENSP00000343818:p.Gln919*		Somatic				CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q919*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q887*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q919*	p.Q919*	NM_018249.4	NP_060719.4	WXS	Illumina GAIIx	Phase_I	Q96SN8	CK5P2_HUMAN			21	2934	-			919					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.2755C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766120	0.69878	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	.	.	.	5.56	3.65	0.41850	.	0.836552	0.10591	N	0.656781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	11.8918	0.52633	0.0:0.0:0.6822:0.3178	.	.	.	.	X	887;919;919;919;313	.	ENSP00000343818:Q919X	Q	-	1	0	CDK5RAP2	122255593	0.105000	0.21958	0.007000	0.13788	0.003000	0.03518	2.404000	0.44539	0.650000	0.30769	0.650000	0.86243	CAG		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		55	662	0	0	0	1	0	55	662				
PNMA1	9240	broad.mit.edu	37	14	74180132	74180132	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:74180132C>A	ENST00000316836.3	-	1	996	c.211G>T	c.(211-213)Gct>Tct	p.A71S		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	71					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		taatctacagcgccagtgagc	0.527																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(211-213)Gct>Tct		paraneoplastic Ma antigen 1							129.0	135.0	133.0					14																	74180132		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74180132C>A	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.211G>T	14.37:g.74180132C>A	ENSP00000318914:p.Ala71Ser		Somatic					p.A71S	NM_006029.4	NP_006020.4	WXS	Illumina GAIIx	Phase_I	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	996	-			71					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.211G>T	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	7.433	0.639075	0.14386	.	.	ENSG00000176903	ENST00000316836	T	0.09445	2.98	3.97	2.11	0.27256	.	0.672928	0.13061	N	0.416881	T	0.03434	0.0099	N	0.01874	-0.695	0.25907	N	0.983287	B	0.06786	0.001	B	0.12837	0.008	T	0.46133	-0.9213	10	0.12766	T	0.61	-0.0863	6.6845	0.23138	0.0:0.7802:0.0:0.2198	.	71	Q8ND90	PNMA1_HUMAN	S	71	ENSP00000318914:A71S	ENSP00000318914:A71S	A	-	1	0	PNMA1	73249885	0.007000	0.16637	0.662000	0.29724	0.998000	0.95712	0.994000	0.29693	0.618000	0.30179	0.655000	0.94253	GCT		0.527	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		12	182	1	0	0.00185496	1	0.00195171	12	182				
DYRK4	8798	broad.mit.edu	37	12	4702286	4702286	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:4702286A>T	ENST00000540757.2	+	4	397	c.237A>T	c.(235-237)aaA>aaT	p.K79N	DYRK4_ENST00000543431.1_Missense_Mutation_p.K79N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K79N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	79						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.K481N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTCCTGAGAAATTTAGCAAGA	0.537																																						ENST00000540757.2																			1	Substitution - Missense(1)	p.K481N(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(235-237)aaA>aaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							55.0	58.0	57.0					12																	4702286		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4702286A>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.237A>T	12.37:g.4702286A>T	ENSP00000441755:p.Lys79Asn		Somatic				DYRK4_ENST00000543431.1_Missense_Mutation_p.K79N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K79N	p.K79N	NM_003845.1	NP_003836.1	WXS	Illumina GAIIx	Phase_I	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		4	397	+			79					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.237A>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	A	1.622	-0.521266	0.04171	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.65364	-0.15;-0.11;-0.11;-0.12	4.93	-0.289	0.12851	.	0.460129	0.25183	N	0.032508	T	0.43523	0.1251	L	0.35341	1.055	0.09310	N	0.999999	B;B;B	0.34015	0.435;0.004;0.002	B;B;B	0.33620	0.167;0.015;0.007	T	0.25950	-1.0117	10	0.40728	T	0.16	.	5.701	0.17883	0.4551:0.1491:0.3958:0.0	.	194;79;79	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	194;79;79;79	ENSP00000437534:K194N;ENSP00000441755:K79N;ENSP00000010132:K79N;ENSP00000439697:K79N	ENSP00000010132:K79N	K	+	3	2	DYRK4	4572547	0.008000	0.16893	0.795000	0.32087	0.228000	0.25075	-0.146000	0.10250	-0.191000	0.10448	-0.385000	0.06624	AAA		0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			100	70	0	0	0	1	0	100	70				
ELAC1	55520	broad.mit.edu	37	18	48513277	48513277	+	Missense_Mutation	SNP	G	G	A	rs371639199		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:48513277G>A	ENST00000269466.3	+	4	1021	c.914G>A	c.(913-915)cGt>cAt	p.R305H	RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	305					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		AAGTTGTGCCGTGCAAAGAGG	0.493																																						ENST00000269466.3																			0				kidney(1)|large_intestine(4)|prostate(1)	6						c.(913-915)cGt>cAt		elaC ribonuclease Z 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	70.0	74.0		914	-1.6	1.0	18		74	0,8600		0,0,4300	no	missense	ELAC1	NM_018696.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/364	48513277	1,13005	2203	4300	6503	SO:0001583	missense	55520				tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr18:48513277G>A	AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.914G>A	18.37:g.48513277G>A	ENSP00000269466:p.Arg305His		Somatic				RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron	p.R305H	NM_018696.2	NP_061166.1	WXS	Illumina GAIIx	Phase_I	Q9H777	RNZ1_HUMAN		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)	4	1021	+		Colorectal(6;0.0269)|all_epithelial(6;0.0729)	305					Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	c.914G>A	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674553	0.29693	2.27E-4	0.0	ENSG00000141642	ENST00000269466	T	0.46063	0.88	5.63	-1.64	0.08318	.	1.108720	0.06502	N	0.736451	T	0.29458	0.0734	N	0.20610	0.595	0.09310	N	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.33007	-0.9885	10	0.45353	T	0.12	.	11.9884	0.53161	0.4274:0.0:0.5726:0.0	.	305	Q9H777	RNZ1_HUMAN	H	305	ENSP00000269466:R305H	ENSP00000269466:R305H	R	+	2	0	ELAC1	46767275	0.000000	0.05858	0.976000	0.42696	0.955000	0.61496	-0.134000	0.10436	-0.279000	0.09167	-0.302000	0.09304	CGT		0.493	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			4	121	0	0	0	1	0	4	121				
C14orf37	145407	broad.mit.edu	37	14	58606095	58606095	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:58606095C>T	ENST00000267485.7	-	0	176				C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGAAATGGCACGTACACTGGC	0.398																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33								chromosome 14 open reading frame 37							34.0	35.0	35.0					14																	58606095		2203	4300	6503			145407					integral to membrane	binding	g.chr14:58606095C>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.-19G>A	14.37:g.58606095C>T			Somatic				C14orf37_ENST00000334342.5_5'UTR		NM_001001872.2	NP_001001872.2	WXS	Illumina GAIIx	Phase_I	Q86TY3	CN037_HUMAN			0	176	-								A8K8Z8|Q6P5Q1|Q86TY1	Translation_Start_Site	SNP	ENST00000267485.7	37		CCDS32089.1																																																																																				0.398	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		4	304	0	0	0	1	0	4	304				
UVSSA	57654	broad.mit.edu	37	4	1348634	1348634	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:1348634A>T	ENST00000389851.4	+	6	1493	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L	AC078852.1_ENST00000504748.1_RNA|UVSSA_ENST00000507531.1_Splice_Site_p.Q349L|UVSSA_ENST00000511216.1_Splice_Site_p.Q349L	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	349					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TCGTGGATCCAGGTGAGCCTC	0.632																																						ENST00000389851.4																			0											c.e6+1		UV-stimulated scaffold protein A							67.0	52.0	57.0					4																	1348634		2201	4299	6500	SO:0001630	splice_region_variant	57654							g.chr4:1348634A>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1047+1A>T	4.37:g.1348634A>T			Somatic				UVSSA_ENST00000511216.1_Splice_Site_p.Q349_splice|UVSSA_ENST00000507531.1_Splice_Site_p.Q349_splice	p.Q349_splice	NM_020894.2	NP_065945.2	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			6	1493	+			349					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Splice_Site	SNP	ENST00000389851.4	37	c.1047_splice	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723653	0.68959	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.35048	1.33;1.33;1.33	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.61217	-0.7107	10	0.72032	D	0.01	.	14.2008	0.65703	1.0:0.0:0.0:0.0	.	349	Q2YD98	K1530_HUMAN	L	349	ENSP00000425130:Q349L;ENSP00000374501:Q349L;ENSP00000421741:Q349L	ENSP00000374501:Q349L	Q	+	2	0	KIAA1530	1338634	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	5.185000	0.65076	2.034000	0.60081	0.379000	0.24179	CAG		0.632	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894	Missense_Mutation	2	6	0	0	0	1	0	2	6				
DNAH3	55567	broad.mit.edu	37	16	20975854	20975854	+	Missense_Mutation	SNP	C	C	T	rs139454085	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:20975854C>T	ENST00000261383.3	-	53	9351	c.9352G>A	c.(9352-9354)Gcg>Acg	p.A3118T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3118	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACTGCAGCGCGTTTTCCAGC	0.458													C|||	3	0.000599042	0.0	0.0	5008	,	,		21740	0.002		0.001	False		,,,				2504	0.0					ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9352-9354)Gcg>Acg		dynein, axonemal, heavy chain 3							173.0	165.0	167.0					16																	20975854		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975854C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9352G>A	16.37:g.20975854C>T	ENSP00000261383:p.Ala3118Thr		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.A3118T	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9351	-			3118			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9352G>A	CCDS10594.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	14.28	2.487288	0.44249	.	.	ENSG00000158486	ENST00000261383	T	0.31510	1.49	5.81	4.85	0.62838	.	0.276618	0.37348	N	0.002135	T	0.59783	0.2219	H	0.95294	3.65	0.80722	D	1	D	0.65815	0.995	P	0.51999	0.687	T	0.76024	-0.3110	10	0.87932	D	0	.	16.3212	0.82951	0.1333:0.8667:0.0:0.0	.	3118	Q8TD57	DYH3_HUMAN	T	3118	ENSP00000261383:A3118T	ENSP00000261383:A3118T	A	-	1	0	DNAH3	20883355	1.000000	0.71417	0.182000	0.23118	0.097000	0.18754	4.803000	0.62546	1.452000	0.47756	0.555000	0.69702	GCG		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		29	1788	0	0	0	1	0	29	1788				
SPON1	10418	broad.mit.edu	37	11	14282235	14282235	+	RNA	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:14282235G>A	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							CAAGTCTCTGGCAGAACTTGG	0.577																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							81.0	85.0	84.0					11																	14282235		2070	4207	6277			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14282235G>A																													11.37:g.14282235G>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2468	+									RNA	SNP	ENST00000534587.1	37			.	.	.	.	.	.	.	.	.	.	G	39	7.600703	0.98384	.	.	ENSG00000152268	ENST00000310358	.	.	.	4.48	4.48	0.54585	.	0.187569	0.46145	D	0.000318	T	0.51398	0.1672	.	.	.	0.34234	D	0.676805	B	0.22604	0.072	B	0.29077	0.098	T	0.60999	-0.7151	7	0.45353	T	0.12	.	14.7078	0.69203	0.0:0.0:1.0:0.0	.	645	Q9HCB6	SPON1_HUMAN	T	644	.	ENSP00000309297:A644T	A	+	1	0	SPON1	14238811	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.355000	0.79434	2.305000	0.77605	0.655000	0.94253	GCA		0.577	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			5	254	0	0	0	1	0	5	254				
SUPT5H	6829	broad.mit.edu	37	19	39964107	39964107	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39964107G>A	ENST00000599117.1	+	26	2805	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	SUPT5H_ENST00000432763.2_Missense_Mutation_p.R813H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R809H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R813H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R809H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	813	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATGGCAGCCGCACTCCTGCC	0.627																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2437-2439)cGc>cAc		suppressor of Ty 5 homolog (S. cerevisiae)							75.0	74.0	74.0					19																	39964107		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964107G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2438G>A	19.37:g.39964107G>A	ENSP00000470252:p.Arg813His		Somatic				SUPT5H_ENST00000359191.6_Missense_Mutation_p.R809H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R813H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R809H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R813H	p.R813H			WXS	Illumina GAIIx	Phase_I	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		26	2805	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		813			9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2438G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894088	0.91889	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.983;0.99	D	0.83733	0.0199	8	.	.	.	-15.1183	16.2818	0.82694	0.0:0.0:1.0:0.0	.	605;809;813	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	H	813;809;791;813	.	.	R	+	2	0	SUPT5H	44655947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.326000	0.96389	2.136000	0.66102	0.462000	0.41574	CGC		0.627	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		6	377	0	0	0	1	0	6	377				
TMEM214	54867	broad.mit.edu	37	2	27258869	27258869	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	223					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCATCTGTATCCAGGCCATCC	0.512																																						ENST00000238788.9																			1	Substitution - coding silent(1)	p.I223I(1)	kidney(1)	kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(667-669)atC>atT		transmembrane protein 214							98.0	99.0	99.0					2																	27258869		2114	4241	6355	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27258869C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.669C>T	2.37:g.27258869C>T			Somatic				TMEM214_ENST00000404032.3_Silent_p.I178I	p.I223I	NM_017727.4	NP_060197.4	WXS	Illumina GAIIx	Phase_I	Q6NUQ4	TM214_HUMAN			5	731	+			223					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.669C>T	CCDS42664.1																																																																																				0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		158	308	0	0	0	1	0	158	308				
KIF5A	3798	broad.mit.edu	37	12	57975218	57975218	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57975218C>T	ENST00000455537.2	+	25	3050	c.2776C>T	c.(2776-2778)Cac>Tac	p.H926Y	KIF5A_ENST00000286452.5_Missense_Mutation_p.H837Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	926	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGGCCTGGCCACTACCCAGC	0.547																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2776-2778)Cac>Tac		kinesin family member 5A							82.0	81.0	81.0					12																	57975218		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57975218C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2776C>T	12.37:g.57975218C>T	ENSP00000408979:p.His926Tyr		Somatic				KIF5A_ENST00000286452.5_Missense_Mutation_p.H837Y	p.H926Y	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			25	3050	+			926			Globular.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2776C>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028165	0.75390	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.74315	-0.83;-0.83	4.52	3.61	0.41365	.	0.396852	0.26112	N	0.026275	T	0.74733	0.3755	L	0.43923	1.385	0.46113	D	0.998879	D;D	0.54397	0.966;0.966	P;P	0.52598	0.703;0.703	T	0.76857	-0.2804	10	0.59425	D	0.04	.	13.1252	0.59351	0.1617:0.8383:0.0:0.0	.	837;926	B7Z2M7;Q12840	.;KIF5A_HUMAN	Y	926;837;20	ENSP00000408979:H926Y;ENSP00000286452:H837Y	ENSP00000286452:H837Y	H	+	1	0	KIF5A	56261485	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.415000	0.80131	1.244000	0.43870	0.561000	0.74099	CAC		0.547	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		4	184	0	0	0	1	0	4	184				
PTPMT1	114971	broad.mit.edu	37	11	47593092	47593092	+	Missense_Mutation	SNP	C	C	T	rs201322249		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:47593092C>T	ENST00000326674.9	+	4	539	c.517C>T	c.(517-519)Cct>Tct	p.P173S	PTPMT1_ENST00000534775.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.P109S|PTPMT1_ENST00000426530.2_Missense_Mutation_p.A145V|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_3'UTR	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	173	Tyrosine-protein phosphatase.				cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CCACATCAGGCCTGGCCAGCT	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20053	0.0		0.0	False		,,,				2504	0.0					ENST00000426530.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(433-435)gCc>gTc		protein tyrosine phosphatase, mitochondrial 1							104.0	98.0	100.0					11																	47593092		1917	4122	6039	SO:0001583	missense	114971				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47593092C>T	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.517C>T	11.37:g.47593092C>T	ENSP00000325958:p.Pro173Ser		Somatic				PTPMT1_ENST00000326656.8_Missense_Mutation_p.P109S|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000534775.1_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.P173S|PTPMT1_ENST00000527079.2_3'UTR	p.A145V	NM_001143984.1	NP_001137456.1	WXS	Illumina GAIIx	Phase_I	Q8WUK0	PTPM1_HUMAN			2	627	+			0			Tyrosine-protein phosphatase.		E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	c.434C>T	CCDS41643.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	10.99|10.99	1.507901|1.507901	0.27036|0.27036	.|.	.|.	ENSG00000110536|ENSG00000110536	ENST00000426530|ENST00000326656;ENST00000326674	.|T;D	.|0.85411	.|1.85;-1.98	5.88|5.88	-1.06|-1.06	0.10002|0.10002	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.870153	.|0.09799	.|N	.|0.754387	T|T	0.65688|0.65688	0.2715|0.2715	N|N	0.04959|0.04959	-0.14|-0.14	0.09310|0.09310	N|N	1|1	B|B;B	0.28933|0.06786	0.228|0.001;0.0	B|B;B	0.24155|0.08055	0.051|0.003;0.001	T|T	0.53627|0.53627	-0.8412|-0.8412	8|10	0.87932|0.54805	D|T	0|0.06	-5.1108|-5.1108	3.9275|3.9275	0.09270|0.09270	0.3527:0.3492:0.0:0.2981|0.3527:0.3492:0.0:0.2981	.|.	145|109;173	E9PAT8|Q8WUK0-2;Q8WUK0	.|.;PTPM1_HUMAN	V|S	145|109;173	.|ENSP00000325882:P109S;ENSP00000325958:P173S	ENSP00000410272:A145V|ENSP00000325882:P109S	A|P	+|+	2|1	0|0	PTPMT1|PTPMT1	47549668|47549668	0.000000|0.000000	0.05858|0.05858	0.637000|0.637000	0.29366|0.29366	0.576000|0.576000	0.36127|0.36127	-0.007000|-0.007000	0.12810|0.12810	-0.185000|-0.185000	0.10550|0.10550	-0.181000|-0.181000	0.13052|0.13052	GCC|CCT		0.488	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		4	291	0	0	0	1	0	4	291				
LLGL1	3996	broad.mit.edu	37	17	18144970	18144970	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18144970G>A	ENST00000316843.4	+	18	2804	c.2708G>A	c.(2707-2709)tGc>tAc	p.C903Y		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	903					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTATTCCTGCATCCGGAAG	0.657																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2707-2709)tGc>tAc		lethal giant larvae homolog 1 (Drosophila)							92.0	82.0	85.0					17																	18144970		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18144970G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2708G>A	17.37:g.18144970G>A	ENSP00000321537:p.Cys903Tyr		Somatic					p.C903Y	NM_004140.3	NP_004131.3	WXS	Illumina GAIIx	Phase_I	Q15334	L2GL1_HUMAN			18	2804	+	all_neural(463;0.228)		903					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2708G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227678	0.79576	.	.	ENSG00000131899	ENST00000316843	T	0.04049	3.72	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	L	0.46819	1.47	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.13548	-1.0505	10	0.14656	T	0.56	-23.9401	19.8101	0.96543	0.0:0.0:1.0:0.0	.	903	Q15334	L2GL1_HUMAN	Y	903	ENSP00000321537:C903Y	ENSP00000321537:C903Y	C	+	2	0	LLGL1	18085695	1.000000	0.71417	0.716000	0.30569	0.801000	0.45260	7.825000	0.86693	2.696000	0.92011	0.655000	0.94253	TGC		0.657	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			8	556	0	0	0	1	0	8	556				
C10orf2	56652	broad.mit.edu	37	10	102753148	102753148	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102753148G>A	ENST00000311916.2	+	5	2121	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	646					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGATGACACTGGACCAGTGGC	0.542																																						ENST00000311916.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1936-1938)Gga>Aga		chromosome 10 open reading frame 2							105.0	110.0	109.0					10																	102753148		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102753148G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1936G>A	10.37:g.102753148G>A	ENSP00000309595:p.Gly646Arg		Somatic				C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	p.G646R	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	WXS	Illumina GAIIx	Phase_I	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	2121	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	646					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.1936G>A	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981337	0.18812	.	.	ENSG00000107815	ENST00000311916	D	0.93859	-3.3	5.71	4.8	0.61643	.	0.501604	0.20140	N	0.098400	D	0.89473	0.6725	L	0.46157	1.445	0.80722	D	1	P	0.38250	0.624	B	0.34590	0.186	D	0.87733	0.2580	9	.	.	.	-24.049	13.2076	0.59807	0.0761:0.0:0.9239:0.0	.	646	Q96RR1	PEO1_HUMAN	R	646	ENSP00000309595:G646R	.	G	+	1	0	C10orf2	102743138	0.999000	0.42202	0.801000	0.32222	0.042000	0.13812	5.156000	0.64905	2.700000	0.92200	0.462000	0.41574	GGA		0.542	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		124	418	0	0	0	1	0	124	418				
LOXL1	4016	broad.mit.edu	37	15	74240155	74240155	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:74240155G>A	ENST00000261921.7	+	5	1840	c.1514G>A	c.(1513-1515)aGc>aAc	p.S505N		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	505	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CAGGGCCTGAGCCCAGGCTGC	0.602																																						ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1513-1515)aGc>aAc		lysyl oxidase-like 1							148.0	130.0	136.0					15																	74240155		2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74240155G>A	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1514G>A	15.37:g.74240155G>A	ENSP00000261921:p.Ser505Asn		Somatic					p.S505N	NM_005576.2	NP_005567.2	WXS	Illumina GAIIx	Phase_I	Q08397	LOXL1_HUMAN			5	1840	+			505			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1514G>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039513	0.75617	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.36520	1.25	4.44	4.44	0.53790	.	0.044457	0.85682	D	0.000000	T	0.67487	0.2898	M	0.91038	3.17	0.52501	D	0.999953	D	0.69078	0.997	D	0.79108	0.992	T	0.77264	-0.2652	10	0.87932	D	0	.	15.662	0.77193	0.0:0.0:1.0:0.0	.	505	Q08397	LOXL1_HUMAN	N	505;367	ENSP00000261921:S505N	ENSP00000261921:S505N	S	+	2	0	LOXL1	72027208	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.297000	0.96120	2.038000	0.60285	0.313000	0.20887	AGC		0.602	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		5	610	0	0	0	1	0	5	610				
CERK	64781	broad.mit.edu	37	22	47087611	47087611	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:47087611G>C	ENST00000216264.8	-	11	1302	c.1190C>G	c.(1189-1191)tCc>tGc	p.S397C	CERK_ENST00000541677.1_Missense_Mutation_p.S199C|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	397					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACAAGCACAGGACATGTTTGT	0.567																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1189-1191)tCc>tGc		ceramide kinase							67.0	56.0	60.0					22																	47087611		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47087611G>C	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1190C>G	22.37:g.47087611G>C	ENSP00000216264:p.Ser397Cys		Somatic				CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Missense_Mutation_p.S199C	p.S397C	NM_022766.5	NP_073603.2	WXS	Illumina GAIIx	Phase_I	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	11	1302	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	397					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.1190C>G	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	g	13.79	2.342777	0.41498	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.48522	0.81;0.81	4.68	-0.739	0.11120	.	0.384844	0.30989	N	0.008472	T	0.46308	0.1386	M	0.66297	2.02	0.50313	D	0.999868	B	0.33280	0.405	B	0.33890	0.172	T	0.57516	-0.7798	10	0.59425	D	0.04	-22.0174	16.5467	0.84448	0.0:0.6146:0.3854:0.0	.	397	Q8TCT0	CERK1_HUMAN	C	397;199	ENSP00000216264:S397C;ENSP00000438659:S199C	ENSP00000216264:S397C	S	-	2	0	CERK	45466275	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.102000	0.41796	0.031000	0.15407	0.563000	0.77884	TCC		0.567	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		3	142	0	0	0	1	0	3	142				
IPMK	253430	broad.mit.edu	37	10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A	rs375383787		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(955-957)gCg>gTg		inositol polyphosphate multikinase		G	VAL/ALA	0,4406		0,0,2203	144.0	146.0	145.0		956	2.9	0.5	10		145	3,8597	3.0+/-9.4	0,3,4297	no	missense	IPMK	NM_152230.4	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	319/417	59956132	3,13003	2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956132G>A	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.956C>T	10.37:g.59956132G>A	ENSP00000363046:p.Ala319Val		Somatic					p.A319V	NM_152230.4	NP_689416.1	WXS	Illumina GAIIx	Phase_I	Q8NFU5	IPMK_HUMAN			6	1278	-			319						Missense_Mutation	SNP	ENST00000373935.3	37	c.956C>T	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	6.658	0.489926	0.12702	0.0	3.49E-4	ENSG00000151151	ENST00000373935	T	0.17213	2.29	6.07	2.93	0.34026	.	0.417900	0.29876	N	0.010973	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.36672	-0.9738	9	.	.	.	-0.9649	7.9357	0.29929	0.3101:0.0:0.6899:0.0	.	319	Q8NFU5	IPMK_HUMAN	V	319	ENSP00000363046:A319V	.	A	-	2	0	IPMK	59626138	0.995000	0.38212	0.540000	0.28089	0.248000	0.25809	3.557000	0.53741	0.918000	0.36919	-0.225000	0.12378	GCG		0.378	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		4	196	0	0	0	1	0	4	196				
ABCC3	8714	broad.mit.edu	37	17	48745161	48745161	+	Intron	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48745161G>A	ENST00000285238.8	+	12	1715				ABCC3_ENST00000427699.1_Missense_Mutation_p.G560R	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCAGGGCTCTGGGTGCCCAGG	0.642																																						ENST00000427699.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1678-1680)Ggg>Agg		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						50.0	48.0	49.0					17																	48745161		2203	4300	6503	SO:0001627	intron_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48745161G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1635+43G>A	17.37:g.48745161G>A			Somatic				ABCC3_ENST00000285238.8_Intron	p.G560R	NM_001144070.1	NP_001137542.1	WXS	Illumina GAIIx	Phase_I	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		12	1758	+			0			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.1678G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287360	0.05605	.	.	ENSG00000108846	ENST00000427699	D	0.88586	-2.4	3.12	-2.34	0.06704	.	.	.	.	.	T	0.74412	0.3713	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59026	-0.7531	9	0.72032	D	0.01	.	6.4734	0.22022	0.2787:0.1317:0.5896:0.0	.	560	O15438-5	.	R	560	ENSP00000395160:G560R	ENSP00000395160:G560R	G	+	1	0	ABCC3	46100160	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.866000	0.04245	-1.023000	0.03342	-1.161000	0.01788	GGG		0.642	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		4	220	0	0	0	1	0	4	220				
NLRP8	126205	broad.mit.edu	37	19	56463964	56463964	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:56463964A>G	ENST00000291971.3	+	2	499	c.428A>G	c.(427-429)gAg>gGg	p.E143G	NLRP8_ENST00000590542.1_Missense_Mutation_p.E143G	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	143					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAATCTGGAGGAAGGAGAA	0.483																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(427-429)gAg>gGg		NLR family, pyrin domain containing 8							166.0	152.0	156.0					19																	56463964		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56463964A>G	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.428A>G	19.37:g.56463964A>G	ENSP00000291971:p.Glu143Gly		Somatic				NLRP8_ENST00000590542.1_Missense_Mutation_p.E143G	p.E143G	NM_176811.2	NP_789781.2	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	499	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	143					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.428A>G	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	6.677	0.493466	0.12702	.	.	ENSG00000179709	ENST00000291971	T	0.77358	-1.09	1.77	1.77	0.24775	.	.	.	.	.	T	0.68430	0.3000	N	0.08118	0	0.09310	N	1	D;P	0.67145	0.996;0.893	P;P	0.57960	0.83;0.521	T	0.57619	-0.7780	9	0.72032	D	0.01	.	5.6162	0.17432	1.0:0.0:0.0:0.0	.	143;143	Q86W28-2;Q86W28	.;NALP8_HUMAN	G	143	ENSP00000291971:E143G	ENSP00000291971:E143G	E	+	2	0	NLRP8	61155776	0.044000	0.20184	0.004000	0.12327	0.007000	0.05969	0.588000	0.23924	1.076000	0.40961	0.416000	0.27883	GAG		0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		5	575	0	0	0	1	0	5	575				
OPN3	23596	broad.mit.edu	37	1	241767868	241767868	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:241767868A>G	ENST00000366554.2	-	2	493	c.387T>C	c.(385-387)atT>atC	p.I129I	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	129					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTAGGGTGGCAATGGAAACAA	0.502																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(385-387)atT>atC		opsin 3							52.0	53.0	52.0					1																	241767868		2203	4300	6503	SO:0001819	synonymous_variant	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767868A>G	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.387T>C	1.37:g.241767868A>G			Somatic				OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	p.I129I	NM_014322.2	NP_055137.2	WXS	Illumina GAIIx	Phase_I	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	493	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	129					Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	c.387T>C	CCDS31072.1																																																																																				0.502	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		3	167	0	0	0	1	0	3	167				
PTEN	5728	broad.mit.edu	37	10	89711956	89711956	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:89711956G>A	ENST00000371953.3	+	6	1931	c.574G>A	c.(574-576)Gca>Aca	p.A192T	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	192	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V191fs*7(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGACCAGTGGCACTGTTGTT	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V191fs*7(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(574-576)Gca>Aca		phosphatase and tensin homolog							151.0	150.0	150.0					10																	89711956		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711956G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.574G>A	10.37:g.89711956G>A	ENSP00000361021:p.Ala192Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.A192T	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1931	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	192			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.574G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232631	0.22626	.	.	ENSG00000171862	ENST00000371953	D	0.84589	-1.87	5.73	5.73	0.89815	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.155152	0.56097	D	0.000022	T	0.73079	0.3541	N	0.12746	0.255	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.67189	-0.5733	9	.	.	.	-8.2329	15.3992	0.74823	0.0:0.1386:0.8614:0.0	.	192	P60484	PTEN_HUMAN	T	192	ENSP00000361021:A192T	.	A	+	1	0	PTEN	89701936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.412000	0.80091	2.718000	0.92993	0.585000	0.79938	GCA		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		4	339	0	0	0	1	0	4	339				
PAX5	5079	broad.mit.edu	37	9	37015093	37015093	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37015093C>T	ENST00000358127.4	-	3	385	c.311G>A	c.(310-312)cGc>cAc	p.R104H	PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520281.1_Missense_Mutation_p.R104H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.R104H|PAX5_ENST00000377847.2_Missense_Mutation_p.R104H|PAX5_ENST00000523241.1_Missense_Mutation_p.R104H|PAX5_ENST00000520154.1_Missense_Mutation_p.R104H|PAX5_ENST00000377853.2_Missense_Mutation_p.R104H|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377852.2_Missense_Mutation_p.R104H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	104	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGATTTTGGCGTTTATATTC	0.517			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(310-312)cGc>cAc		paired box 5							250.0	241.0	244.0					9																	37015093		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015093C>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.311G>A	9.37:g.37015093C>T	ENSP00000350844:p.Arg104His		Somatic				PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.R104H|PAX5_ENST00000414447.1_Missense_Mutation_p.R104H|PAX5_ENST00000377847.2_Missense_Mutation_p.R104H|PAX5_ENST00000520281.1_Missense_Mutation_p.R104H|PAX5_ENST00000520154.1_Missense_Mutation_p.R104H|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377853.2_Missense_Mutation_p.R104H|PAX5_ENST00000523241.1_Missense_Mutation_p.R104H|PAX5_ENST00000522003.1_5'UTR	p.R104H	NM_016734.1	NP_057953.1	WXS	Illumina GAIIx	Phase_I	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	385	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	104			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.311G>A	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278287	0.80692	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98	5.68	5.68	0.88126	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.114382	0.64402	D	0.000011	D	0.99387	0.9784	M	0.77712	2.385	0.80722	D	1	D;P;D;P;P;D;D;D	0.69078	0.997;0.941;0.997;0.937;0.587;0.997;0.997;0.997	P;B;P;B;B;P;P;P	0.57324	0.752;0.31;0.818;0.262;0.179;0.818;0.752;0.818	D	0.99410	1.0930	10	0.87932	D	0	.	19.8396	0.96677	0.0:1.0:0.0:0.0	.	104;104;104;104;104;104;104;104	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	H	104	ENSP00000350844:R104H;ENSP00000367084:R104H;ENSP00000367083:R104H;ENSP00000429637:R104H;ENSP00000429291:R104H;ENSP00000430773:R104H;ENSP00000412188:R104H;ENSP00000367078:R104H	ENSP00000350844:R104H	R	-	2	0	PAX5	37005093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.973000	0.63763	2.690000	0.91761	0.650000	0.86243	CGC		0.517	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			6	678	0	0	0	1	0	6	678				
FAM83E	54854	broad.mit.edu	37	19	49114020	49114020	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:49114020C>A	ENST00000263266.3	-	2	739	c.550G>T	c.(550-552)Gtc>Ttc	p.V184F		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	184										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGCAGGTAGACAGGTACCCAG	0.662																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(550-552)Gtc>Ttc		family with sequence similarity 83, member E							14.0	18.0	17.0					19																	49114020		2087	4220	6307	SO:0001583	missense	54854							g.chr19:49114020C>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.550G>T	19.37:g.49114020C>A	ENSP00000263266:p.Val184Phe		Somatic					p.V184F	NM_017708.3	NP_060178.2	WXS	Illumina GAIIx	Phase_I	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	2	739	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	184					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.550G>T	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709653	0.89018	.	.	ENSG00000105523	ENST00000263266	T	0.53206	0.63	4.84	4.84	0.62591	.	0.082511	0.47852	D	0.000218	T	0.74199	0.3685	M	0.90082	3.085	0.50813	D	0.999897	D	0.89917	1.0	D	0.97110	1.0	T	0.80625	-0.1299	10	0.87932	D	0	-43.0872	15.8056	0.78506	0.0:1.0:0.0:0.0	.	184	Q2M2I3	FA83E_HUMAN	F	184	ENSP00000263266:V184F	ENSP00000263266:V184F	V	-	1	0	FAM83E	53805832	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.456000	0.80751	2.432000	0.82394	0.462000	0.41574	GTC		0.662	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		4	12	1	0	0.000602214	1	0.000637062	4	12				
TTLL5	23093	broad.mit.edu	37	14	76186076	76186076	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:76186076A>T	ENST00000298832.9	+	11	1047		c.e11-1		TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Splice_Site	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATTTGTTTTAGTTGTGACGA	0.353																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e11-1		tubulin tyrosine ligase-like family, member 5							128.0	122.0	124.0					14																	76186076		2203	4300	6503	SO:0001630	splice_region_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76186076A>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.843-1A>T	14.37:g.76186076A>T			Somatic				TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Splice_Site		NM_015072.4	NP_055887.3	WXS	Illumina GAIIx	Phase_I	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	11	1047	+								B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Splice_Site	SNP	ENST00000298832.9	37		CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073386	0.76415	.	.	ENSG00000119685	ENST00000557636;ENST00000298832	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9097	0.79463	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTLL5	75255829	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	9.104000	0.94239	2.291000	0.77112	0.533000	0.62120	.		0.353	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	Intron	6	284	0	0	0	1	0	6	284				
RERE	473	broad.mit.edu	37	1	8419828	8419828	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:8419828G>A	ENST00000337907.3	-	20	4248	c.3614C>T	c.(3613-3615)gCg>gTg	p.A1205V	RERE_ENST00000377464.1_Missense_Mutation_p.A937V|RERE_ENST00000476556.1_Missense_Mutation_p.A651V|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.A1205V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1205					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1205V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTCACAGCCGCCCGCTCTGC	0.706																																						ENST00000337907.3																			1	Substitution - Missense(1)	p.A1205V(1)	kidney(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3613-3615)gCg>gTg		arginine-glutamic acid dipeptide (RE) repeats							25.0	25.0	25.0					1																	8419828		2201	4299	6500	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8419828G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3614C>T	1.37:g.8419828G>A	ENSP00000338629:p.Ala1205Val		Somatic				RERE_ENST00000476556.1_Missense_Mutation_p.A651V|RERE_ENST00000400908.2_Missense_Mutation_p.A1205V|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.A937V	p.A1205V	NM_012102.3	NP_036234.3	WXS	Illumina GAIIx	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	20	4248	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1205					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3614C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277107	0.40294	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.2	5.2	0.72013	.	.	.	.	.	T	0.41305	0.1153	M	0.68952	2.095	0.58432	D	0.999994	P	0.44429	0.835	B	0.36845	0.234	T	0.43718	-0.9374	9	0.39692	T	0.17	-16.0664	15.88	0.79197	0.0:0.0:1.0:0.0	.	1205	Q9P2R6	RERE_HUMAN	V	1205;937;651;1205	ENSP00000338629:A1205V;ENSP00000366684:A937V;ENSP00000422246:A651V;ENSP00000383700:A1205V	ENSP00000338629:A1205V	A	-	2	0	RERE	8342415	1.000000	0.71417	0.372000	0.25991	0.015000	0.08874	7.477000	0.81069	2.407000	0.81776	0.655000	0.94253	GCG		0.706	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	3	0	0	0	1	0	17	3				
GRIA4	2893	broad.mit.edu	37	11	105845092	105845092	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:105845092T>C	ENST00000530497.1	+	15	2465	c.2465T>C	c.(2464-2466)gTt>gCt	p.V822A	RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Missense_Mutation_p.V822A|GRIA4_ENST00000393127.2_Missense_Mutation_p.V822A|GRIA4_ENST00000525187.1_Missense_Mutation_p.V822A			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	822					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TACATTCTGGTTGGCGGCTTG	0.498																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2464-2466)gTt>gCt		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						175.0	158.0	164.0					11																	105845092		2201	4299	6500	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845092T>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2465T>C	11.37:g.105845092T>C	ENSP00000435775:p.Val822Ala		Somatic				GRIA4_ENST00000282499.5_Missense_Mutation_p.V822A|GRIA4_ENST00000525187.1_Missense_Mutation_p.V822A|GRIA4_ENST00000530497.1_Missense_Mutation_p.V822A|GRIA4_ENST00000533094.1_3'UTR	p.V822A	NM_001077243.2	NP_001070711.2	WXS	Illumina GAIIx	Phase_I	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2911	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	822					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2465T>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643020	0.87859	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.71	5.71	0.89125	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000013	T	0.44603	0.1301	N	0.05078	-0.115	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.81914	0.963;0.995	T	0.39440	-0.9614	10	0.07644	T	0.81	.	15.9838	0.80133	0.0:0.0:0.0:1.0	.	822;822	P48058;G3V164	GRIA4_HUMAN;.	A	822	ENSP00000282499:V822A;ENSP00000376835:V822A;ENSP00000435775:V822A;ENSP00000432180:V822A	ENSP00000282499:V822A	V	+	2	0	GRIA4	105350302	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.178000	0.69098	0.533000	0.62120	GTT		0.498	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			3	169	0	0	0	1	0	3	169				
CDC25B	994	broad.mit.edu	37	20	3778394	3778394	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:3778394C>T	ENST00000245960.5	+	2	1023	c.326C>T	c.(325-327)gCa>gTa	p.A109V	CDC25B_ENST00000344256.6_Missense_Mutation_p.A45V|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.A109V|CDC25B_ENST00000379598.5_Missense_Mutation_p.A45V|CDC25B_ENST00000439880.2_Missense_Mutation_p.A95V	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	109					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCTTCTGATGCAGGTGAGGCC	0.612																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(325-327)gCa>gTa		cell division cycle 25B							68.0	73.0	71.0					20																	3778394		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3778394C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.326C>T	20.37:g.3778394C>T	ENSP00000245960:p.Ala109Val		Somatic				CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.A109V|CDC25B_ENST00000439880.2_Missense_Mutation_p.A95V|CDC25B_ENST00000344256.6_Missense_Mutation_p.A45V|CDC25B_ENST00000379598.5_Missense_Mutation_p.A45V	p.A109V	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	WXS	Illumina GAIIx	Phase_I	P30305	MPIP2_HUMAN			2	1023	+			109					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.326C>T	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566548	0.86439	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.21031	2.18;2.08;2.16;2.29;2.03	4.57	3.53	0.40419	.	0.127222	0.52532	D	0.000069	T	0.37679	0.1012	L	0.59436	1.845	0.50039	D	0.999844	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.991	D;D;D;D;D;P	0.70487	0.951;0.965;0.965;0.969;0.969;0.836	T	0.10154	-1.0642	10	0.72032	D	0.01	0.0368	9.8938	0.41306	0.0:0.7921:0.2079:0.0	.	45;31;45;109;95;109	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	V	45;45;109;95;109	ENSP00000339125:A45V;ENSP00000368918:A45V;ENSP00000245960:A109V;ENSP00000405972:A95V;ENSP00000339170:A109V	ENSP00000245960:A109V	A	+	2	0	CDC25B	3726394	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.284000	0.33249	2.499000	0.84300	0.556000	0.70494	GCA		0.612	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		4	172	0	0	0	1	0	4	172				
NPHP1	4867	broad.mit.edu	37	2	110962538	110962538	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:110962538G>A	ENST00000393272.3	-	1	105	c.8C>T	c.(7-9)gCg>gTg	p.A3V	NPHP1_ENST00000355301.4_Missense_Mutation_p.A3V|NPHP1_ENST00000316534.4_Missense_Mutation_p.A3V|NPHP1_ENST00000418527.1_Missense_Mutation_p.A3V|NPHP1_ENST00000417665.1_Missense_Mutation_p.A3V|NPHP1_ENST00000445609.2_Missense_Mutation_p.A3V	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	3					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTGTCGTCTCGCCAGCATCTC	0.667																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(7-9)gCg>gTg		nephronophthisis 1 (juvenile)							40.0	39.0	39.0					2																	110962538		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110962538G>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.8C>T	2.37:g.110962538G>A	ENSP00000376953:p.Ala3Val		Somatic				NPHP1_ENST00000355301.4_Missense_Mutation_p.A3V|NPHP1_ENST00000418527.1_Missense_Mutation_p.A3V|NPHP1_ENST00000393272.3_Missense_Mutation_p.A3V|NPHP1_ENST00000417665.1_Missense_Mutation_p.A3V|NPHP1_ENST00000445609.2_Missense_Mutation_p.A3V	p.A3V			WXS	Illumina GAIIx	Phase_I	O15259	NPHP1_HUMAN			1	81	-			3					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.8C>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566088	0.27915	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665;ENST00000418527	T;T;T;T;T	0.65732	-0.02;0.01;-0.02;-0.17;0.0	4.82	3.9	0.45041	.	0.864908	0.10223	N	0.700693	T	0.62600	0.2441	L	0.59436	1.845	0.09310	N	1	B;B;D;P;D;P;D	0.56287	0.41;0.123;0.968;0.78;0.957;0.545;0.975	B;B;P;B;B;B;P	0.46419	0.012;0.023;0.516;0.094;0.284;0.027;0.477	T	0.54977	-0.8212	10	0.49607	T	0.09	-0.3352	10.1301	0.42674	0.0:0.2207:0.7793:0.0	.	3;3;3;3;3;3;3	B4DQY0;C9JNM7;C9J082;O15259-3;O15259;O15259-2;O15259-4	.;.;.;.;NPHP1_HUMAN;.;.	V	3	ENSP00000313169:A3V;ENSP00000389879:A3V;ENSP00000376953:A3V;ENSP00000347452:A3V;ENSP00000402176:A3V	ENSP00000313169:A3V	A	-	2	0	NPHP1	110319827	0.004000	0.15560	0.008000	0.14137	0.031000	0.12232	0.782000	0.26788	2.501000	0.84356	0.557000	0.71058	GCG		0.667	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		4	130	0	0	0	1	0	4	130				
SWSAP1	126074	broad.mit.edu	37	19	11486196	11486196	+	Missense_Mutation	SNP	G	G	A	rs201364032		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:11486196G>A	ENST00000312423.2	+	2	253	c.194G>A	c.(193-195)cGc>cAc	p.R65H	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	65					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										TAGAAGATCCGCTTCCAGTAC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		15618	0.0		0.0	False		,,,				2504	0.001					ENST00000312423.2																			0											c.(193-195)cGc>cAc		SWIM-type zinc finger 7 associated protein 1							116.0	137.0	130.0					19																	11486196		2203	4298	6501	SO:0001583	missense	126074							g.chr19:11486196G>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.194G>A	19.37:g.11486196G>A	ENSP00000310008:p.Arg65His		Somatic					p.R65H	NM_175871.3	NP_787067.2	WXS	Illumina GAIIx	Phase_I	Q6NVH7	CS039_HUMAN			2	253	+			65					Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	c.194G>A	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788317	0.70337	.	.	ENSG00000173928	ENST00000312423	T	0.78246	-1.16	5.08	3.82	0.43975	.	0.166426	0.41500	D	0.000866	T	0.70150	0.3191	L	0.42245	1.32	0.44000	D	0.996704	P	0.41848	0.763	B	0.43301	0.415	T	0.70357	-0.4894	10	0.46703	T	0.11	-21.9205	7.9453	0.29982	0.1755:0.0:0.8245:0.0	.	65	Q6NVH7	CS039_HUMAN	H	65	ENSP00000310008:R65H	ENSP00000310008:R65H	R	+	2	0	C19orf39	11347196	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.635000	0.37134	2.362000	0.80069	0.655000	0.94253	CGC		0.577	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		5	278	0	0	0	1	0	5	278				
LPHN1	22859	broad.mit.edu	37	19	14288434	14288434	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:14288434G>A	ENST00000340736.6	-	3	490	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R65C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	65	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCGTCCGTGCGCCCGTAGTTG	0.607																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(193-195)Cgc>Tgc		latrophilin 1							144.0	112.0	123.0					19																	14288434		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14288434G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.193C>T	19.37:g.14288434G>A	ENSP00000340688:p.Arg65Cys		Somatic				LPHN1_ENST00000361434.3_Missense_Mutation_p.R65C	p.R65C	NM_001008701.2	NP_001008701.1	WXS	Illumina GAIIx	Phase_I	O94910	LPHN1_HUMAN			3	490	-			65			SUEL-type lectin.		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.193C>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095100	0.94197	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.22945	1.93;1.93	5.01	5.01	0.66863	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79940	-0.1591	10	0.87932	D	0	.	15.7972	0.78420	0.0:0.0:1.0:0.0	.	65;65	O94910-2;O94910	.;LPHN1_HUMAN	C	65	ENSP00000340688:R65C;ENSP00000355328:R65C	ENSP00000340688:R65C	R	-	1	0	LPHN1	14149434	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.519000	0.73768	2.324000	0.78689	0.591000	0.81541	CGC		0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		8	1332	0	0	0	1	0	8	1332				
CYP2J2	1573	broad.mit.edu	37	1	60377309	60377309	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:60377309T>C	ENST00000371204.3	-	4	698	c.655A>G	c.(655-657)Aca>Gca	p.T219A	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	219					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TCCAAGTATGTGACTTCATCT	0.458																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(655-657)Aca>Gca		cytochrome P450, family 2, subfamily J, polypeptide 2							117.0	112.0	113.0					1																	60377309		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377309T>C	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.655A>G	1.37:g.60377309T>C	ENSP00000360247:p.Thr219Ala		Somatic				CYP2J2_ENST00000492633.1_5'UTR	p.T219A	NM_000775.2	NP_000766.2	WXS	Illumina GAIIx	Phase_I	P51589	CP2J2_HUMAN			4	698	-	all_cancers(7;0.000396)		219					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.655A>G	CCDS613.1	.	.	.	.	.	.	.	.	.	.	T	8.811	0.935190	0.18206	.	.	ENSG00000134716	ENST00000371204	T	0.79033	-1.23	5.85	3.52	0.40303	.	0.885835	0.10050	N	0.722354	T	0.60274	0.2256	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.49532	-0.8930	10	0.45353	T	0.12	.	5.147	0.14991	0.1348:0.147:0.0:0.7181	.	219	P51589	CP2J2_HUMAN	A	219	ENSP00000360247:T219A	ENSP00000360247:T219A	T	-	1	0	CYP2J2	60149897	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.333000	0.33816	0.467000	0.27218	-0.327000	0.08410	ACA		0.458	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		5	369	0	0	0	1	0	5	369				
TCTN2	79867	broad.mit.edu	37	12	124171487	124171487	+	Silent	SNP	G	G	A	rs199981419		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:124171487G>A	ENST00000303372.5	+	6	797	c.669G>A	c.(667-669)acG>acA	p.T223T	TCTN2_ENST00000426174.2_Silent_p.T222T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	223					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTGGGACGACGACACGTG	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(667-669)acG>acA		tectonic family member 2							314.0	268.0	284.0					12																	124171487		2203	4300	6503	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171487G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.669G>A	12.37:g.124171487G>A			Somatic				TCTN2_ENST00000426174.2_Silent_p.T222T	p.T223T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	WXS	Illumina GAIIx	Phase_I	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	797	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		223					A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.669G>A	CCDS9253.1																																																																																				0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		6	884	0	0	0	1	0	6	884				
ASRGL1	80150	broad.mit.edu	37	11	62123795	62123795	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62123795A>T	ENST00000415229.2	+	3	405		c.e3-1		ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1						asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTTGGTTTTAGGTTGTGGGT	0.542																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.e3-1		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						189.0	177.0	181.0					11																	62123795		2202	4299	6501	SO:0001630	splice_region_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62123795A>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.191-1A>T	11.37:g.62123795A>T			Somatic				ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site		NM_001083926.1	NP_001077395.1	WXS	Illumina GAIIx	Phase_I	Q7L266	ASGL1_HUMAN			3	405	+								B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Splice_Site	SNP	ENST00000415229.2	37		CCDS8019.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645954	0.67358	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.108	0.65104	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASRGL1	61880371	1.000000	0.71417	0.936000	0.37596	0.795000	0.44927	7.345000	0.79337	2.210000	0.71456	0.528000	0.53228	.		0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926	Intron	7	380	0	0	0	1	0	7	380				
CACNA1G	8913	broad.mit.edu	37	17	48685238	48685238	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48685238G>A	ENST00000359106.5	+	25	4563	c.4563G>A	c.(4561-4563)ctG>ctA	p.L1521L	CACNA1G_ENST00000510115.1_Silent_p.L1498L|CACNA1G_ENST00000507896.1_Silent_p.L1521L|CACNA1G_ENST00000358244.5_Silent_p.L1498L|CACNA1G_ENST00000354983.4_Silent_p.L1498L|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515411.1_Silent_p.L1521L|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000352832.5_Silent_p.L1498L|CACNA1G_ENST00000505165.1_Silent_p.L1521L|CACNA1G_ENST00000515765.1_Silent_p.L1521L|CACNA1G_ENST00000514181.1_Silent_p.L1521L|CACNA1G_ENST00000514079.1_Silent_p.L1521L|CACNA1G_ENST00000429973.2_Silent_p.L1521L|CACNA1G_ENST00000512389.1_Silent_p.L1521L|CACNA1G_ENST00000360761.4_Silent_p.L1498L|CACNA1G_ENST00000442258.2_Silent_p.L1498L|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Silent_p.L1521L|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000515165.1_Silent_p.L1521L|CACNA1G_ENST00000507336.1_Silent_p.L1521L|CACNA1G_ENST00000507510.2_Silent_p.L1521L|CACNA1G_ENST00000502264.1_Silent_p.L1498L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1521					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTCGTTCCTGCTCATTGTGG	0.597																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4492-4494)ctG>ctA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						181.0	179.0	180.0					17																	48685238		2129	4233	6362	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48685238G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4563G>A	17.37:g.48685238G>A			Somatic				CACNA1G_ENST00000502264.1_Silent_p.L1498L|CACNA1G_ENST00000514181.1_Silent_p.L1521L|CACNA1G_ENST00000507609.1_Silent_p.L1521L|CACNA1G_ENST00000514079.1_Silent_p.L1521L|CACNA1G_ENST00000507336.1_Silent_p.L1521L|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000512389.1_Silent_p.L1521L|CACNA1G_ENST00000354983.4_Silent_p.L1498L|CACNA1G_ENST00000505165.1_Silent_p.L1521L|CACNA1G_ENST00000360761.4_Silent_p.L1498L|CACNA1G_ENST00000515765.1_Silent_p.L1521L|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000429973.2_Silent_p.L1521L|CACNA1G_ENST00000510115.1_Silent_p.L1498L|CACNA1G_ENST00000515411.1_Silent_p.L1521L|CACNA1G_ENST00000507896.1_Silent_p.L1521L|CACNA1G_ENST00000359106.5_Silent_p.L1521L|CACNA1G_ENST00000507510.2_Silent_p.L1521L|CACNA1G_ENST00000358244.5_Silent_p.L1498L|CACNA1G_ENST00000442258.2_Silent_p.L1498L|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515165.1_Silent_p.L1521L|CACNA1G_ENST00000503485.1_Intron	p.L1498L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		24	4866	+	Breast(11;6.7e-17)		1521					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4494G>A	CCDS45730.1																																																																																				0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		14	2139	0	0	0	1	0	14	2139				
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					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.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.H514D(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1540-1542)Cat>Gat		zinc finger protein 844							87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187475C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	19.37:g.12187475C>G	ENSP00000392024:p.His514Asp		Somatic				ZNF844_ENST00000441304.2_3'UTR	p.H514D	NM_001136501.1	NP_001129973.1	WXS	Illumina GAIIx	Phase_I	Q08AG5	ZN844_HUMAN			4	1715	+			514					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1540C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			6	117	0	0	0	1	0	6	117				
NETO1	81832	broad.mit.edu	37	18	70450991	70450991	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:70450991G>A	ENST00000327305.6	-	7	1447	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	NETO1_ENST00000299430.2_Missense_Mutation_p.L263F|NETO1_ENST00000583169.1_Missense_Mutation_p.L264F	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATCACCCCAAGACCCGTGCGT	0.483																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(790-792)Ctt>Ttt		neuropilin (NRP) and tolloid (TLL)-like 1							195.0	166.0	176.0					18																	70450991		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70450991G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.790C>T	18.37:g.70450991G>A	ENSP00000313088:p.Leu264Phe		Somatic				NETO1_ENST00000299430.2_Missense_Mutation_p.L263F|NETO1_ENST00000583169.1_Missense_Mutation_p.L264F	p.L264F	NM_138966.3	NP_620416.1	WXS	Illumina GAIIx	Phase_I	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1447	-		Esophageal squamous(42;0.129)	264			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.790C>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203743	0.79127	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.18338	2.22;2.22	5.27	5.27	0.74061	CUB (5);	0.000000	0.53938	D	0.000058	T	0.37919	0.1021	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.83275	0.996;0.842	T	0.03993	-1.0986	10	0.52906	T	0.07	-10.3986	19.2678	0.93997	0.0:0.0:1.0:0.0	.	263;264	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	F	264;263	ENSP00000313088:L264F;ENSP00000299430:L263F	ENSP00000299430:L263F	L	-	1	0	NETO1	68601971	1.000000	0.71417	0.061000	0.19648	0.757000	0.42996	5.538000	0.67193	2.599000	0.87857	0.650000	0.86243	CTT		0.483	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		5	301	0	0	0	1	0	5	301				
SLC9A2	6549	broad.mit.edu	37	2	103322324	103322324	+	Missense_Mutation	SNP	G	G	A	rs572895281		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:103322324G>A	ENST00000233969.2	+	11	2139	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	666					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAACCTCCCGATATTTATCC	0.303																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1996-1998)cGa>cAa		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							46.0	52.0	50.0					2																	103322324		2199	4297	6496	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103322324G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1997G>A	2.37:g.103322324G>A	ENSP00000233969:p.Arg666Gln		Somatic					p.R666Q	NM_003048.3	NP_003039.2	WXS	Illumina GAIIx	Phase_I	Q9UBY0	SL9A2_HUMAN			11	2139	+			666					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1997G>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274682	0.95459	.	.	ENSG00000115616	ENST00000233969	T	0.61742	0.08	6.06	6.06	0.98353	.	0.228496	0.35903	N	0.002914	T	0.64103	0.2568	M	0.62723	1.935	0.39309	D	0.965042	D	0.69078	0.997	P	0.47299	0.543	T	0.66472	-0.5915	10	0.49607	T	0.09	.	19.6125	0.95613	0.0:0.0:1.0:0.0	.	666	Q9UBY0	SL9A2_HUMAN	Q	666	ENSP00000233969:R666Q	ENSP00000233969:R666Q	R	+	2	0	SLC9A2	102688756	0.931000	0.31567	0.993000	0.49108	0.995000	0.86356	4.358000	0.59442	2.879000	0.98667	0.650000	0.86243	CGA		0.303	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			8	38	0	0	0	1	0	8	38				
HTR3E	285242	broad.mit.edu	37	3	183822677	183822677	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183822677G>A	ENST00000415389.2	+	5	958	c.492G>A	c.(490-492)ctG>ctA	p.L164L	HTR3E_ENST00000425359.2_Silent_p.L149L|HTR3E_ENST00000440596.2_Silent_p.L190L|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Silent_p.L164L|HTR3E_ENST00000335304.2_Silent_p.L179L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	164					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCTGTAACCTGGACATCTTCT	0.483																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(490-492)ctG>ctA		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic							158.0	124.0	136.0					3																	183822677		2203	4300	6503	SO:0001819	synonymous_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183822677G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.492G>A	3.37:g.183822677G>A			Somatic				HTR3E_ENST00000425359.2_Silent_p.L149L|HTR3E_ENST00000335304.2_Silent_p.L179L|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Silent_p.L190L|HTR3E_ENST00000436361.2_Silent_p.L164L	p.L164L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	WXS	Illumina GAIIx	Phase_I	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	958	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		164					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	c.492G>A	CCDS58868.1																																																																																				0.483	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		7	1214	0	0	0	1	0	7	1214				
ANPEP	290	broad.mit.edu	37	15	90349564	90349564	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90349564G>T	ENST00000300060.6	-	2	564	c.251C>A	c.(250-252)tCc>tAc	p.S84Y		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	84	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.S84Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CACCCGGTAGGAATCGGGTTT	0.612																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			1	Substitution - Missense(1)	p.S84Y(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(250-252)tCc>tAc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						125.0	101.0	109.0					15																	90349564		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349564G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.251C>A	15.37:g.90349564G>T	ENSP00000300060:p.Ser84Tyr		Somatic					p.S84Y	NM_001150.2	NP_001141.2	WXS	Illumina GAIIx	Phase_I	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	564	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		84			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.251C>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	1.878	-0.458636	0.04508	.	.	ENSG00000166825	ENST00000300060	T	0.04406	3.63	4.74	3.72	0.42706	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.571125	0.18960	N	0.126430	T	0.07999	0.0200	L	0.61218	1.895	0.31612	N	0.65133	B	0.24092	0.097	B	0.30716	0.119	T	0.01084	-1.1457	10	0.44086	T	0.13	.	10.9907	0.47547	0.0:0.0:0.7267:0.2733	.	84	P15144	AMPN_HUMAN	Y	84	ENSP00000300060:S84Y	ENSP00000300060:S84Y	S	-	2	0	ANPEP	88150568	0.085000	0.21516	0.866000	0.34008	0.234000	0.25298	0.529000	0.23019	2.180000	0.69256	0.467000	0.42956	TCC		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			116	249	1	0	1.39264e-60	1	1.55773e-60	116	249				
ZNF655	79027	broad.mit.edu	37	7	99159573	99159573	+	Intron	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99159573G>A	ENST00000394163.2	+	2	319				ZNF655_ENST00000320583.5_Missense_Mutation_p.A67T|ZNF655_ENST00000357864.2_Intron|ZNF655_ENST00000425063.1_Missense_Mutation_p.A67T|ZNF655_ENST00000454654.1_Missense_Mutation_p.A67T|ZNF655_ENST00000440391.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000449244.1_Missense_Mutation_p.A67T|ZNF655_ENST00000424881.1_Intron|ZNF655_ENST00000493277.1_Intron|ZNF655_ENST00000252713.4_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655						negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CCAGGCAGCTGCGCTCTTGAC	0.587																																						ENST00000425063.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(199-201)Gcg>Acg		zinc finger protein 655							58.0	47.0	51.0					7																	99159573		2203	4300	6503	SO:0001627	intron_variant	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99159573G>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.136+1255G>A	7.37:g.99159573G>A			Somatic				ZNF655_ENST00000424881.1_Intron|ZNF655_ENST00000252713.4_Intron|ZNF655_ENST00000493277.1_Intron|ZNF655_ENST00000357864.2_Intron|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000449244.1_Missense_Mutation_p.A67T|ZNF655_ENST00000440391.1_Intron|ZNF655_ENST00000320583.5_Missense_Mutation_p.A67T|ZNF655_ENST00000454654.1_Missense_Mutation_p.A67T	p.A67T			WXS	Illumina GAIIx	Phase_I	Q8N720	ZN655_HUMAN			3	301	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		19					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.199G>A	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782254	0.49891	.	.	ENSG00000197343	ENST00000320583;ENST00000454654;ENST00000449244;ENST00000425063	T	0.01379	4.96	4.45	3.54	0.40534	.	.	.	.	.	T	0.00936	0.0031	N	0.12443	0.215	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.55373	-0.8151	9	0.13108	T	0.6	.	7.7999	0.29168	0.117:0.0:0.883:0.0	.	67	Q8N720-2	.	T	67	ENSP00000322363:A67T	ENSP00000322363:A67T	A	+	1	0	ZNF655	98997509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.844000	0.39269	1.408000	0.46895	0.563000	0.77884	GCG		0.587	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		5	192	0	0	0	1	0	5	192				
HIST1H4E	8367	broad.mit.edu	37	6	26205069	26205069	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:26205069T>C	ENST00000360441.4	+	1	212	c.197T>C	c.(196-198)gTg>gCg	p.V66A		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGGAAAACGTGATTCGTGAT	0.567																																						ENST00000360441.4																			1	Substitution - Missense(1)	p.V66A(1)	kidney(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(196-198)gTg>gCg		histone cluster 1, H4e							138.0	124.0	129.0					6																	26205069		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205069T>C	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.197T>C	6.37:g.26205069T>C	ENSP00000353624:p.Val66Ala		Somatic					p.V66A	NM_003545.3	NP_003536.1	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			1	212	+		all_hematologic(11;0.196)	66					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.197T>C	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	14.76	2.632206	0.46944	.	.	ENSG00000198518	ENST00000360441	T	0.70282	-0.47	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000002	T	0.67970	0.2950	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	T	0.72225	-0.4355	7	0.72032	D	0.01	.	9.8663	0.41145	0.0:0.0:0.0:1.0	.	.	.	.	A	66	ENSP00000353624:V66A	ENSP00000353624:V66A	V	+	2	0	HIST1H4E	26313048	1.000000	0.71417	0.692000	0.30179	0.007000	0.05969	7.509000	0.81698	1.246000	0.43901	0.533000	0.62120	GTG		0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		166	117	0	0	0	1	0	166	117				
CDC14A	8556	broad.mit.edu	37	1	100964760	100964760	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:100964760G>A	ENST00000336454.3	+	15	2052	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	CDC14A_ENST00000544534.1_Missense_Mutation_p.R566Q|CDC14A_ENST00000542213.1_Missense_Mutation_p.R508Q|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.R566Q	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	566					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)	p.R566Q(1)		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)		ACCATCCTCCGACCCTCCTAC	0.572																																						ENST00000336454.3																			1	Substitution - Missense(1)	p.R566Q(1)	kidney(1)	breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1696-1698)cGa>cAa		cell division cycle 14A							99.0	108.0	105.0					1																	100964760		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100964760G>A	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.1697G>A	1.37:g.100964760G>A	ENSP00000336739:p.Arg566Gln		Somatic				CDC14A_ENST00000361544.6_Missense_Mutation_p.R566Q|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.R566Q|CDC14A_ENST00000542213.1_Missense_Mutation_p.R508Q	p.R566Q	NM_003672.3	NP_003663.2	WXS	Illumina GAIIx	Phase_I	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)	15	2052	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	566					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.1697G>A	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312840	0.23908	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.11604	2.76;2.83;2.97;2.77	5.66	2.75	0.32379	.	0.144113	0.47455	D	0.000221	T	0.03178	0.0093	L	0.29908	0.895	0.27833	N	0.941398	D;B;B;B	0.62365	0.991;0.052;0.052;0.086	P;B;B;B	0.45099	0.469;0.005;0.005;0.012	T	0.38090	-0.9677	10	0.40728	T	0.16	-3.9626	7.2997	0.26413	0.156:0.1421:0.702:0.0	.	508;566;566;566	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	Q	508;566;566;566	ENSP00000442640:R508Q;ENSP00000354916:R566Q;ENSP00000336739:R566Q;ENSP00000442543:R566Q	ENSP00000336739:R566Q	R	+	2	0	CDC14A	100737348	0.982000	0.34865	0.226000	0.23910	0.007000	0.05969	2.437000	0.44828	0.855000	0.35359	-0.892000	0.02923	CGA		0.572	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		93	154	0	0	0	1	0	93	154				
PITPNM1	9600	broad.mit.edu	37	11	67263036	67263036	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:67263036C>G	ENST00000534749.1	-	15	2543	c.2355G>C	c.(2353-2355)gaG>gaC	p.E785D	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E784D|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E785D			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	785	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTCCAGCTCCTCCAGAAAGA	0.662																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2353-2355)gaG>gaC		phosphatidylinositol transfer protein, membrane-associated 1							23.0	23.0	23.0					11																	67263036		2198	4289	6487	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67263036C>G	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2355G>C	11.37:g.67263036C>G	ENSP00000437286:p.Glu785Asp		Somatic				PITPNM1_ENST00000436757.2_Missense_Mutation_p.E784D|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E785D	p.E785D	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	WXS	Illumina GAIIx	Phase_I	O00562	PITM1_HUMAN			16	2580	-			785			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.2355G>C	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333037	0.24167	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.47177	0.85;0.85;0.85	4.16	-0.917	0.10485	DDHD (2);	0.280545	0.26251	N	0.025456	T	0.28665	0.0710	L	0.37466	1.105	0.35344	D	0.786768	B;B	0.13594	0.007;0.008	B;B	0.18561	0.013;0.022	T	0.11767	-1.0574	10	0.19147	T	0.46	-25.0179	4.8998	0.13769	0.0:0.3786:0.1572:0.4641	.	784;785	O00562-2;O00562	.;PITM1_HUMAN	D	785;784;785	ENSP00000437286:E785D;ENSP00000398787:E784D;ENSP00000348772:E785D	ENSP00000348772:E785D	E	-	3	2	PITPNM1	67019612	0.977000	0.34250	0.995000	0.50966	0.885000	0.51271	-0.065000	0.11617	-0.270000	0.09285	0.561000	0.74099	GAG		0.662	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		2	0	0	0	0	1	0	2	0				
ADAM33	80332	broad.mit.edu	37	20	3651745	3651745	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:3651745T>C	ENST00000356518.2	-	19	2389	c.2148A>G	c.(2146-2148)ccA>ccG	p.P716P	ADAM33_ENST00000350009.2_Silent_p.P690P|ADAM33_ENST00000379861.4_Silent_p.P716P|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	716					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGCCGGCCCCTGGGAGCAGAG	0.672																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(2146-2148)ccA>ccG		ADAM metallopeptidase domain 33							21.0	24.0	23.0					20																	3651745		2198	4296	6494	SO:0001819	synonymous_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3651745T>C	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.2148A>G	20.37:g.3651745T>C			Somatic				ADAM33_ENST00000350009.2_Silent_p.P690P|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Silent_p.P716P	p.P716P	NM_025220.2	NP_079496.1	WXS	Illumina GAIIx	Phase_I	Q9BZ11	ADA33_HUMAN			19	2389	-			716					A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	c.2148A>G	CCDS13058.1																																																																																				0.672	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		2	3	0	0	0	1	0	2	3				
CMTM2	146225	broad.mit.edu	37	16	66613971	66613971	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:66613971G>A	ENST00000268595.2	+	2	479	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	CMTM2_ENST00000379486.2_Intron|RP11-403P17.2_ENST00000568430.1_RNA	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	110	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CTCACTCACCGTGCACCCCAT	0.478																																						ENST00000268595.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(328-330)Gtg>Atg		CKLF-like MARVEL transmembrane domain containing 2							300.0	225.0	250.0					16																	66613971		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66613971G>A	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.328G>A	16.37:g.66613971G>A	ENSP00000268595:p.Val110Met		Somatic				RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Intron	p.V110M	NM_144673.2	NP_653274.1	WXS	Illumina GAIIx	Phase_I	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	2	479	+		Ovarian(137;0.0563)	110			MARVEL.		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.328G>A	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495006	0.44352	.	.	ENSG00000140932	ENST00000268595	T	0.32988	1.43	4.51	-3.72	0.04411	Marvel (1);	1.003210	0.08039	N	0.994772	T	0.16811	0.0404	L	0.48642	1.525	0.09310	N	1	P	0.43431	0.807	B	0.32583	0.148	T	0.16689	-1.0394	10	0.66056	D	0.02	-0.1192	0.3656	0.00371	0.3595:0.1352:0.2303:0.275	.	110	Q8TAZ6	CKLF2_HUMAN	M	110	ENSP00000268595:V110M	ENSP00000268595:V110M	V	+	1	0	CMTM2	65171472	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.347000	0.07750	-0.694000	0.05113	-0.291000	0.09656	GTG		0.478	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			5	338	0	0	0	1	0	5	338				
IGSF9	57549	broad.mit.edu	37	1	159897631	159897631	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159897631G>A	ENST00000368094.1	-	20	3474	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	IGSF9_ENST00000361509.3_Missense_Mutation_p.P1077S|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1093					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P1077S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCCCCAGGGAATTCTGAG	0.517																																						ENST00000368094.1																			1	Substitution - Missense(1)	p.P1077S(1)	kidney(1)	central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3277-3279)Cct>Tct		immunoglobulin superfamily, member 9							52.0	52.0	52.0					1																	159897631		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159897631G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3277C>T	1.37:g.159897631G>A	ENSP00000357073:p.Pro1093Ser		Somatic				IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1077S	p.P1093S	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	3474	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1093						Missense_Mutation	SNP	ENST00000368094.1	37	c.3277C>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701985	0.68501	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.65732	-0.17;-0.09	4.81	4.81	0.61882	.	0.194065	0.25447	N	0.030606	T	0.29817	0.0745	N	0.14661	0.345	0.30363	N	0.783657	P;P	0.47034	0.889;0.808	B;B	0.44224	0.444;0.235	T	0.10428	-1.0630	9	.	.	.	-7.5666	10.6156	0.45447	0.0:0.0:0.8078:0.1922	.	1093;631	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1077;1093;631	ENSP00000355049:P1077S;ENSP00000357073:P1093S	.	P	-	1	0	IGSF9	158164255	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	1.354000	0.34056	2.204000	0.70986	0.563000	0.77884	CCT		0.517	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		247	133	0	0	0	1	0	247	133				
MYBBP1A	10514	broad.mit.edu	37	17	4453623	4453623	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4453623G>A	ENST00000254718.4	-	9	1355	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P350L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	350	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTCCATCTCTGGGGCAAACTT	0.607																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1048-1050)cCa>cTa		MYB binding protein (P160) 1a							139.0	143.0	142.0					17																	4453623		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4453623G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1049C>T	17.37:g.4453623G>A	ENSP00000254718:p.Pro350Leu		Somatic				MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P350L	p.P350L			WXS	Illumina GAIIx	Phase_I	Q9BQG0	MBB1A_HUMAN			9	1355	-			350			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1049C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095358	0.20471	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.44482	0.92;0.92	5.06	4.09	0.47781	Armadillo-type fold (1);	0.052262	0.85682	D	0.000000	T	0.54415	0.1857	M	0.64997	1.995	0.50467	D	0.999877	D;D	0.63880	0.993;0.985	D;P	0.62955	0.909;0.795	T	0.51196	-0.8736	10	0.29301	T	0.29	-15.0043	10.5366	0.45007	0.0896:0.0:0.9104:0.0	.	350;350	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	L	350	ENSP00000370968:P350L;ENSP00000254718:P350L	ENSP00000254718:P350L	P	-	2	0	MYBBP1A	4400372	1.000000	0.71417	0.006000	0.13384	0.028000	0.11728	7.042000	0.76565	1.377000	0.46286	0.655000	0.94253	CCA		0.607	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		7	1006	0	0	0	1	0	7	1006				
DDX3X	1654	broad.mit.edu	37	X	41203538	41203538	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:41203538C>T	ENST00000399959.2	+	10	1766	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A288V|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	304	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATGGTGGTGCCGATATTGGT	0.403										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(910-912)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							266.0	245.0	252.0					X																	41203538		2203	4300	6503	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41203538C>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.911C>T	X.37:g.41203538C>T	ENSP00000382840:p.Ala304Val	HNSCC(61;0.18)	Somatic				DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A288V	p.A304V	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	WXS	Illumina GAIIx	Phase_I	O00571	DDX3X_HUMAN			10	1766	+			304			Helicase ATP-binding.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.911C>T	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	c	36	5.734592	0.96865	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.12774	2.65;2.65	5.71	5.71	0.89125	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	N	0.03967	-0.31	0.80722	D	1	D;P;P;D;D	0.76494	0.999;0.924;0.949;0.974;0.985	D;B;B;P;P	0.67725	0.953;0.335;0.351;0.682;0.762	T	0.46762	-0.9168	10	0.87932	D	0	-8.6214	18.8917	0.92407	0.0:1.0:0.0:0.0	.	304;288;304;316;304	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	V	304;288	ENSP00000382840:A304V;ENSP00000392494:A288V	ENSP00000382840:A304V	A	+	2	0	DDX3X	41088482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.408000	0.81797	0.597000	0.82753	GCC		0.403	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		4	267	0	0	0	1	0	4	267				
GCG	2641	broad.mit.edu	37	2	163003939	163003939	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:163003939T>C	ENST00000418842.2	-	3	432	c.178A>G	c.(178-180)Agt>Ggt	p.S60G	GCG_ENST00000375497.3_Missense_Mutation_p.S60G	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	60					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CTGTAGTCACTGGTGAATGTG	0.498																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(178-180)Agt>Ggt		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						256.0	255.0	255.0					2																	163003939		2047	4194	6241	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163003939T>C		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.178A>G	2.37:g.163003939T>C	ENSP00000387662:p.Ser60Gly		Somatic				GCG_ENST00000375497.3_Missense_Mutation_p.S60G	p.S60G	NM_002054.4	NP_002045.1	WXS	Illumina GAIIx	Phase_I	P01275	GLUC_HUMAN			3	432	-			60					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.178A>G	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.976524	0.92982	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.52526	0.66;0.66	5.64	5.64	0.86602	Glucagon/GIP/secretin/VIP (4);	0.079394	0.85682	D	0.000000	T	0.72716	0.3495	M	0.90082	3.085	0.58432	D	0.999996	D	0.67145	0.996	D	0.63283	0.913	T	0.79446	-0.1800	10	0.87932	D	0	10.2286	16.0238	0.80522	0.0:0.0:0.0:1.0	.	60	P01275	GLUC_HUMAN	G	60	ENSP00000387662:S60G;ENSP00000364647:S60G	ENSP00000364647:S60G	S	-	1	0	GCG	162712185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.714000	0.84703	2.367000	0.80283	0.528000	0.53228	AGT		0.498	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		7	804	0	0	0	1	0	7	804				
BSN	8927	broad.mit.edu	37	3	49689003	49689003	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49689003G>A	ENST00000296452.4	+	5	2128	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	672					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTACTCTCAGGATGCGTCTCG	0.582																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2014-2016)Gat>Aat		bassoon presynaptic cytomatrix protein							84.0	79.0	81.0					3																	49689003		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689003G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2014G>A	3.37:g.49689003G>A	ENSP00000296452:p.Asp672Asn		Somatic					p.D672N	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2128	+			672					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2014G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	g	15.65	2.895115	0.52121	.	.	ENSG00000164061	ENST00000296452	T	0.21361	2.01	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.62723	1.935	0.53688	D	0.999976	D	0.76494	0.999	D	0.69654	0.965	T	0.28522	-1.0041	10	0.46703	T	0.11	.	18.6395	0.91390	0.0:0.0:1.0:0.0	.	672	Q9UPA5	BSN_HUMAN	N	672	ENSP00000296452:D672N	ENSP00000296452:D672N	D	+	1	0	BSN	49664007	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.159000	0.94728	2.395000	0.81488	0.556000	0.70494	GAT		0.582	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	257	0	0	0	1	0	4	257				
SULT1C4	27233	broad.mit.edu	37	2	108994919	108994919	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:108994919A>T	ENST00000272452.2	+	1	452	c.126A>T	c.(124-126)caA>caT	p.Q42H	SULT1C4_ENST00000409309.3_Missense_Mutation_p.Q42H	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	42					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGAACTTCCAAGCCAAGCCTG	0.468																																						ENST00000272452.2																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(124-126)caA>caT		sulfotransferase family, cytosolic, 1C, member 4							160.0	164.0	163.0					2																	108994919		2203	4300	6503	SO:0001583	missense	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108994919A>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.126A>T	2.37:g.108994919A>T	ENSP00000272452:p.Gln42His		Somatic				SULT1C4_ENST00000409309.3_Missense_Mutation_p.Q42H	p.Q42H	NM_006588.2	NP_006579.2	WXS	Illumina GAIIx	Phase_I	O75897	ST1C4_HUMAN			1	452	+			42					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	c.126A>T	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803944	0.70682	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01947	4.54;4.54	4.96	1.33	0.21861	.	0.000000	0.47852	D	0.000216	T	0.03305	0.0096	N	0.08118	0	0.21841	N	0.999512	D;D;D	0.89917	0.991;0.994;1.0	P;P;D	0.72075	0.818;0.755;0.976	T	0.43360	-0.9396	10	0.59425	D	0.04	.	7.703	0.28634	0.6708:0.0:0.3292:0.0	.	42;42;42	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	H	42	ENSP00000272452:Q42H;ENSP00000387225:Q42H	ENSP00000272452:Q42H	Q	+	3	2	SULT1C4	108361351	0.988000	0.35896	1.000000	0.80357	0.971000	0.66376	0.200000	0.17257	0.077000	0.16863	0.496000	0.49642	CAA		0.468	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		6	558	0	0	0	1	0	6	558				
NBPF14	25832	broad.mit.edu	37	1	148012536	148012536	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:148012536C>G	ENST00000369219.1	-	12	1439	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	475	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E480D(1)|p.E475Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					ACATGCTTTTCCTCCAATGCA	0.443																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E480D(1)|p.E475Q(1)	endometrium(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1423-1425)Gaa>Caa		neuroblastoma breakpoint family, member 14							3.0	3.0	3.0					1																	148012536		850	1926	2776	SO:0001583	missense	25832					cytoplasm		g.chr1:148012536C>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1423G>C	1.37:g.148012536C>G	ENSP00000358221:p.Glu475Gln		Somatic					p.E475Q			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			12	1439	-	all_hematologic(923;0.032)		475			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1423G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	2.013|2.013	-0.426593|-0.426593	0.04701|0.04701	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000434489|ENST00000310701;ENST00000392972;ENST00000426874	T|.	0.13307|.	2.6|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.16938|0.16938	0.0407|0.0407	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	B;D;P|.	0.69078|.	0.136;0.997;0.807|.	B;D;P|.	0.79108|.	0.192;0.992;0.728|.	T|T	0.24154|0.24154	-1.0168|-1.0168	7|3	0.56958|.	D|.	0.05|.	.|.	.|.	.|.	.|.	.|.	142;589;475|.	E7EWM5;Q8IX74;Q5TI25|.	.;.;NBPFE_HUMAN|.	Q|S	475;140|480;485;485	ENSP00000358221:E475Q|.	ENSP00000358221:E475Q|.	E|R	-|-	1|3	0|2	NBPF14|NBPF14	146479160|146479160	0.981000|0.981000	0.34729|0.34729	0.004000|0.004000	0.12327|0.12327	0.004000|0.004000	0.04260|0.04260	0.658000|0.658000	0.24979|0.24979	0.367000|0.367000	0.24454|0.24454	0.372000|0.372000	0.22366|0.22366	GAA|AGG		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		8	1365	0	0	0	1	0	8	1365				
RBM39	9584	broad.mit.edu	37	20	34302143	34302143	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:34302143T>C	ENST00000253363.6	-	11	1083	c.1060A>G	c.(1060-1062)Act>Gct	p.T354A	snoU13_ENST00000459110.1_RNA|RBM39_ENST00000407261.4_Missense_Mutation_p.T197A|RBM39_ENST00000361162.6_Missense_Mutation_p.T354A|RBM39_ENST00000528062.3_Missense_Mutation_p.T332A			Q14498	RBM39_HUMAN	RNA binding motif protein 39	354	Activating domain. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AGACGACCAGTTGTTCCCAAA	0.408																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1060-1062)Act>Gct		RNA binding motif protein 39							162.0	138.0	146.0					20																	34302143		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34302143T>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1060A>G	20.37:g.34302143T>C	ENSP00000253363:p.Thr354Ala		Somatic				RBM39_ENST00000253363.6_Missense_Mutation_p.T354A|RBM39_ENST00000528062.3_Missense_Mutation_p.T332A|RBM39_ENST00000407261.4_Missense_Mutation_p.T197A	p.T354A	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	WXS	Illumina GAIIx	Phase_I	Q14498	RBM39_HUMAN			11	1444	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		354			Activating domain (By similarity).|Interaction with JUN (By similarity).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.1060A>G	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.24|16.24	3.067485|3.067485	0.55539|0.55539	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000448303|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	.|T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.043478	.|0.85682	.|D	.|0.000000	T|T	0.43545|0.43545	0.1252|0.1252	L|L	0.50993|0.50993	1.605|1.605	0.80722|0.80722	D|D	1|1	.|P;B;B;B;B	.|0.46784	.|0.884;0.402;0.094;0.402;0.02	.|P;B;B;B;B	.|0.47162	.|0.54;0.109;0.108;0.074;0.023	T|T	0.21211|0.21211	-1.0252|-1.0252	5|10	.|0.15066	.|T	.|0.55	.|.	15.2175|15.2175	0.73281|0.73281	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|332;332;354;354;330	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	S|A	204|354;354;332;197	.|ENSP00000253363:T354A;ENSP00000354437:T354A;ENSP00000436747:T332A;ENSP00000384541:T197A	.|ENSP00000253363:T354A	N|T	-|-	2|1	0|0	RBM39|RBM39	33765557|33765557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.778000|7.778000	0.85637|0.85637	2.189000|2.189000	0.69895|0.69895	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.408	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		10	282	0	0	0	1	0	10	282				
EMILIN3	90187	broad.mit.edu	37	20	39990476	39990476	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:39990476C>T	ENST00000332312.3	-	4	1925	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	578						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TTGAAGTGAGCTGCCCGTCCC	0.607																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1732-1734)aGc>aAc		elastin microfibril interfacer 3							108.0	91.0	97.0					20																	39990476		2202	4300	6502	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990476C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1733G>A	20.37:g.39990476C>T	ENSP00000332806:p.Ser578Asn		Somatic					p.S578N	NM_052846.1	NP_443078.1	WXS	Illumina GAIIx	Phase_I	Q9NT22	EMIL3_HUMAN			4	1925	-		Myeloproliferative disorder(115;0.00425)	578					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1733G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279793	0.10458	.	.	ENSG00000183798	ENST00000332312	T	0.77620	-1.11	4.86	2.87	0.33458	.	1.300780	0.04621	N	0.401915	T	0.79851	0.4517	L	0.50333	1.59	0.09310	N	1	D	0.57257	0.979	P	0.49999	0.628	T	0.64960	-0.6284	9	.	.	.	-8.3317	10.1409	0.42734	0.0:0.8386:0.0:0.1614	.	578	Q9NT22	EMIL3_HUMAN	N	578	ENSP00000332806:S578N	.	S	-	2	0	EMILIN3	39423890	0.988000	0.35896	0.987000	0.45799	0.884000	0.51177	1.484000	0.35508	1.020000	0.39573	0.561000	0.74099	AGC		0.607	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		5	335	0	0	0	1	0	5	335				
PLD2	5338	broad.mit.edu	37	17	4720318	4720318	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4720318C>T	ENST00000263088.6	+	16	1800	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	PLD2_ENST00000572940.1_Missense_Mutation_p.R557W	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	557	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GGACCTTGCCCGGCACTTCAT	0.637																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1669-1671)Cgg>Tgg		phospholipase D2	Choline(DB00122)						68.0	66.0	67.0					17																	4720318		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4720318C>T	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1669C>T	17.37:g.4720318C>T	ENSP00000263088:p.Arg557Trp		Somatic				PLD2_ENST00000572940.1_Missense_Mutation_p.R557W	p.R557W	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			16	1800	+			557			Catalytic.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.1669C>T	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232790	0.79688	.	.	ENSG00000129219	ENST00000263088	T	0.24723	1.84	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.985	T	0.64453	-0.6404	10	0.87932	D	0	-19.3927	11.4034	0.49883	0.1808:0.8192:0.0:0.0	.	414;557;557	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	W	557	ENSP00000263088:R557W	ENSP00000263088:R557W	R	+	1	2	PLD2	4667284	0.960000	0.32886	0.996000	0.52242	0.945000	0.59286	2.153000	0.42282	2.444000	0.82710	0.561000	0.74099	CGG		0.637	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		7	926	0	0	0	1	0	7	926				
STON1	11037	broad.mit.edu	37	2	48818790	48818790	+	Splice_Site	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:48818790A>G	ENST00000406226.1	+	4	2125		c.e4-1		STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1_ENST00000309835.3_Splice_Site|STON1_ENST00000404752.1_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site|STON1-GTF2A1L_ENST00000394754.1_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1						endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTTCCCTCGAGGTCTAGATC	0.368																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.e2-1		stonin 1							148.0	146.0	147.0					2																	48818790		2203	4300	6503	SO:0001630	splice_region_variant	11037							g.chr2:48818790A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1931-1A>G	2.37:g.48818790A>G			Somatic				STON1_ENST00000406226.1_Splice_Site|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1_ENST00000404752.1_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Splice_Site|STON1-GTF2A1L_ENST00000394754.1_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site				WXS	Illumina GAIIx	Phase_I			Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	1940	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Splice_Site	SNP	ENST00000406226.1	37		CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.388732	0.25118	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8166	0.57669	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STON1-GTF2A1L;STON1	48672294	1.000000	0.71417	0.886000	0.34754	0.057000	0.15508	4.914000	0.63348	1.973000	0.57446	0.533000	0.62120	.		0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	Intron	4	198	0	0	0	1	0	4	198				
WDR27	253769	broad.mit.edu	37	6	170070705	170070705	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:170070705G>A	ENST00000448612.1	-	4	525	c.416C>T	c.(415-417)gCc>gTc	p.A139V	WDR27_ENST00000423258.1_Intron|WDR27_ENST00000333572.6_Missense_Mutation_p.A139V|WDR27_ENST00000420344.2_Missense_Mutation_p.A139V	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	139						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		AGCACACACGGCAACAACATG	0.488																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(415-417)gCc>gTc		WD repeat domain 27							119.0	118.0	118.0					6																	170070705		1950	4156	6106	SO:0001583	missense	253769							g.chr6:170070705G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.416C>T	6.37:g.170070705G>A	ENSP00000416289:p.Ala139Val		Somatic				WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Missense_Mutation_p.A139V|WDR27_ENST00000448612.1_Missense_Mutation_p.A139V	p.A139V			WXS	Illumina GAIIx	Phase_I	A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	4	935	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	139					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.416C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021426	0.75275	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000420344	T;T;T	0.72051	1.05;1.36;-0.62	5.52	4.64	0.57946	.	0.068693	0.56097	D	0.000026	T	0.74981	0.3788	M	0.64676	1.99	0.31005	N	0.71985	D;D	0.89917	0.998;1.0	P;D	0.73380	0.896;0.98	T	0.74490	-0.3648	10	0.48119	T	0.1	-13.6786	15.3915	0.74747	0.0:0.1399:0.8601:0.0	.	139;139	F2Z2U5;C9JGV0	.;.	V	139	ENSP00000416289:A139V;ENSP00000330265:A139V;ENSP00000406114:A139V	ENSP00000330265:A139V	A	-	2	0	WDR27	169812630	0.992000	0.36948	0.033000	0.17914	0.032000	0.12392	4.098000	0.57748	1.310000	0.45006	0.491000	0.48974	GCC		0.488	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		4	209	0	0	0	1	0	4	209				
ANGPT4	51378	broad.mit.edu	37	20	860425	860425	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:860425C>T	ENST00000381922.3	-	6	1120	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1018-1020)Gtg>Atg		angiopoietin 4							82.0	75.0	78.0					20																	860425		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:860425C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1018G>A	20.37:g.860425C>T	ENSP00000371347:p.Val340Met		Somatic				ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	p.V340M	NM_015985.2	NP_057069.1	WXS	Illumina GAIIx	Phase_I	Q9Y264	ANGP4_HUMAN			6	1120	-			340			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1018G>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121658	0.20877	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.35236	1.82;1.32	5.44	2.45	0.29901	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.355854	0.25458	N	0.030524	T	0.49372	0.1553	H	0.97707	4.06	0.09310	N	0.999996	D;P	0.55385	0.971;0.945	B;B	0.41860	0.368;0.131	T	0.57957	-0.7721	10	0.87932	D	0	.	5.0409	0.14458	0.1203:0.6288:0.1165:0.1344	.	340;340	B4E3J9;Q9Y264	.;ANGP4_HUMAN	M	340	ENSP00000371347:V340M;ENSP00000439605:V340M	ENSP00000371347:V340M	V	-	1	0	ANGPT4	808425	0.123000	0.22298	0.001000	0.08648	0.205000	0.24178	0.891000	0.28309	0.411000	0.25702	0.655000	0.94253	GTG		0.617	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		9	352	0	0	0	1	0	9	352				
ST14	6768	broad.mit.edu	37	11	130060534	130060534	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:130060534G>A	ENST00000278742.5	+	7	1238	c.820G>A	c.(820-822)Gac>Aac	p.D274N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	274	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCGCGGCAGCGACCTGGTGAC	0.697																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(820-822)Gac>Aac		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						27.0	23.0	24.0					11																	130060534		2199	4295	6494	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130060534G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.820G>A	11.37:g.130060534G>A	ENSP00000278742:p.Asp274Asn		Somatic					p.D274N	NM_021978.3	NP_068813.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	1238	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	274			CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.820G>A	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308460	0.81247	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.33865	1.39	5.55	5.55	0.83447	CUB (5);	0.000000	0.40064	N	0.001183	T	0.70988	0.3287	H	0.94886	3.595	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.937;0.946	T	0.79075	-0.1952	10	0.59425	D	0.04	.	19.113	0.93326	0.0:0.0:1.0:0.0	.	84;274	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	N	274;176	ENSP00000278742:D274N	ENSP00000278742:D274N	D	+	1	0	ST14	129565744	1.000000	0.71417	0.996000	0.52242	0.210000	0.24377	8.653000	0.91088	2.615000	0.88500	0.650000	0.86243	GAC		0.697	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			3	40	0	0	0	1	0	3	40				
PLCE1	51196	broad.mit.edu	37	10	96043555	96043555	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:96043555C>T	ENST00000371380.3	+	20	5039	c.4804C>T	c.(4804-4806)Ctg>Ttg	p.L1602L	PLCE1_ENST00000260766.3_Silent_p.L1602L|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371375.1_Silent_p.L1294L|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371385.3_Silent_p.L1294L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1602					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.L1294L(1)|p.L1602L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGACAACATTCTGGAAGACAG	0.373																																						ENST00000260766.3																			2	Substitution - coding silent(2)	p.L1294L(1)|p.L1602L(1)	kidney(2)	liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(4804-4806)Ctg>Ttg		phospholipase C, epsilon 1							96.0	93.0	94.0					10																	96043555		1860	4089	5949	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96043555C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4804C>T	10.37:g.96043555C>T			Somatic				PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371375.1_Silent_p.L1294L|PLCE1_ENST00000371385.3_Silent_p.L1294L|PLCE1_ENST00000371380.2_Silent_p.L1602L|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1-AS1_ENST00000596633.1_RNA	p.L1602L	NM_016341.3	NP_057425.3	WXS	Illumina GAIIx	Phase_I	Q9P212	PLCE1_HUMAN			21	5438	+		Colorectal(252;0.0458)	1602					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.4804C>T	CCDS41552.1																																																																																				0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		112	34	0	0	0	1	0	112	34				
FMN1	342184	broad.mit.edu	37	15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A	rs202224266		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:33261570G>A	ENST00000559047.1	-	5	2331	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	FMN1_ENST00000334528.9_Nonsense_Mutation_p.R555*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	778	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAACCCCCTCGCCATCTGTGT	0.483													g|||	1	0.000199681	0.0	0.0	5008	,	,		16763	0.0		0.001	False		,,,				2504	0.0					ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1663-1665)Cga>Tga		formin 1							245.0	229.0	234.0					15																	33261570		1958	4161	6119	SO:0001587	stop_gained	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261570G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2332C>T	15.37:g.33261570G>A	ENSP00000454047:p.Arg778*		Somatic				FMN1_ENST00000559047.1_Nonsense_Mutation_p.R778*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*	p.R555*	NM_001103184.2	NP_001096654.1	WXS	Illumina GAIIx	Phase_I	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1662	-		all_lung(180;1.14e-07)	778			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Nonsense_Mutation	SNP	ENST00000559047.1	37	c.1663C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.662893	0.88251	.	.	ENSG00000248905	ENST00000334528	.	.	.	4.51	3.52	0.40303	.	0.305463	0.34133	N	0.004233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6005	0.17351	0.1035:0.0:0.5508:0.3457	.	.	.	.	X	555	.	ENSP00000333950:R555X	R	-	1	2	FMN1	31048862	0.010000	0.17322	0.799000	0.32177	0.098000	0.18820	0.546000	0.23284	2.339000	0.79563	0.555000	0.69702	CGA		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		8	1228	0	0	0	1	0	8	1228				
PRODH2	58510	broad.mit.edu	37	19	36303703	36303703	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:36303703A>G	ENST00000301175.3	-	2	250	c.233T>C	c.(232-234)cTc>cCc	p.L78P		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	78					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.L78P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACAGGTCCGGAGCATCCTGGG	0.622																																						ENST00000301175.3																			1	Substitution - Missense(1)	p.L78P(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(232-234)cTc>cCc		proline dehydrogenase (oxidase) 2							38.0	36.0	37.0					19																	36303703		2203	4299	6502	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303703A>G	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.233T>C	19.37:g.36303703A>G	ENSP00000301175:p.Leu78Pro		Somatic					p.L78P	NM_021232.1	NP_067055.1	WXS	Illumina GAIIx	Phase_I	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	250	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		78						Missense_Mutation	SNP	ENST00000301175.3	37	c.233T>C	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021182	0.54576	.	.	ENSG00000250799	ENST00000301175	T	0.36878	1.23	5.09	4.03	0.46877	.	.	.	.	.	T	0.21103	0.0508	L	0.27053	0.805	0.34467	D	0.702397	B	0.21381	0.055	B	0.17433	0.018	T	0.20273	-1.0280	9	0.24483	T	0.36	.	4.4087	0.11421	0.7351:0.0:0.0916:0.1733	.	78	Q9UF12	PROD2_HUMAN	P	78	ENSP00000301175:L78P	ENSP00000301175:L78P	L	-	2	0	PRODH2	40995543	0.923000	0.31300	0.531000	0.27976	0.101000	0.19017	2.618000	0.46393	2.135000	0.66039	0.482000	0.46254	CTC		0.622	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		46	90	0	0	0	1	0	46	90				
PTPRN	5798	broad.mit.edu	37	2	220162727	220162727	+	Silent	SNP	C	C	A	rs545393291		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220162727C>A	ENST00000295718.2	-	13	2007	c.1767G>T	c.(1765-1767)ggG>ggT	p.G589G	PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Silent_p.G499G|PTPRN_ENST00000409251.3_Silent_p.G560G|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	589					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G589G(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCACCAGCAGCCCAGCCACAC	0.677																																						ENST00000295718.2																			1	Substitution - coding silent(1)	p.G589G(1)	prostate(1)	breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1765-1767)ggG>ggT		protein tyrosine phosphatase, receptor type, N							50.0	49.0	49.0					2																	220162727		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162727C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1767G>T	2.37:g.220162727C>A			Somatic				PTPRN_ENST00000423636.2_Silent_p.G499G|PTPRN_ENST00000409251.3_Silent_p.G560G	p.G589G	NM_002846.3	NP_002837.1	WXS	Illumina GAIIx	Phase_I	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	2007	-		Renal(207;0.0474)	589					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.1767G>T	CCDS2440.1																																																																																				0.677	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			17	308	1	0	3.45872e-05	1	3.71939e-05	17	308				
TEP1	7011	broad.mit.edu	37	14	20873701	20873701	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:20873701A>T	ENST00000262715.5	-	4	819	c.779T>A	c.(778-780)gTa>gAa	p.V260E	TEP1_ENST00000556935.1_Missense_Mutation_p.V260E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	260	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTTCATGTTTACTTCTGAGAC	0.463																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(778-780)gTa>gAa		telomerase-associated protein 1							112.0	106.0	108.0					14																	20873701		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20873701A>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.779T>A	14.37:g.20873701A>T	ENSP00000262715:p.Val260Glu		Somatic				TEP1_ENST00000556935.1_Missense_Mutation_p.V260E	p.V260E	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	4	819	-	all_cancers(95;0.00123)	all_lung(585;0.235)	260			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.779T>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450952	0.26074	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.16196	2.36;2.36	4.84	1.17	0.20885	TROVE (2);	0.501323	0.18113	N	0.151303	T	0.14874	0.0359	L	0.59436	1.845	0.09310	N	1	P;P	0.37914	0.557;0.611	B;B	0.37346	0.159;0.247	T	0.12243	-1.0555	10	0.49607	T	0.09	-1.2675	4.3546	0.11172	0.5862:0.1717:0.2421:0.0	.	260;260	G3V5X7;Q99973	.;TEP1_HUMAN	E	260	ENSP00000262715:V260E;ENSP00000452574:V260E	ENSP00000262715:V260E	V	-	2	0	TEP1	19943541	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	1.050000	0.30404	0.396000	0.25283	0.533000	0.62120	GTA		0.463	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	262	0	0	0	1	0	5	262				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	293	0	0	0	1	0	5	293				
LAMC2	3918	broad.mit.edu	37	1	183196831	183196831	+	Splice_Site	SNP	C	C	T	rs142082019		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:183196831C>T	ENST00000264144.4	+	10	1532	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	LAMC2_ENST00000493293.1_Splice_Site_p.T489T	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	489	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCGGGGTCACCGGTAAGGCCA	0.557																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.e10+1		laminin, gamma 2		C	,	1,4405	2.1+/-5.4	0,1,2202	91.0	65.0	74.0		1467,1467	-11.3	0.1	1	dbSNP_134	74	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	LAMC2	NM_005562.2,NM_018891.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	489/1194,489/1112	183196831	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183196831C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1468+1C>T	1.37:g.183196831C>T			Somatic				LAMC2_ENST00000493293.1_Splice_Site_p.T489_splice	p.T489_splice	NM_005562.2	NP_005553.2	WXS	Illumina GAIIx	Phase_I	Q13753	LAMC2_HUMAN			10	1532	+			489			Laminin EGF-like 6.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Splice_Site	SNP	ENST00000264144.4	37	c.1468_splice	CCDS1352.1																																																																																				0.557	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	Silent	9	176	0	0	0	1	0	9	176				
KCNA6	3742	broad.mit.edu	37	12	4920126	4920126	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:4920126T>C	ENST00000280684.3	+	1	1785	c.919T>C	c.(919-921)Tac>Cac	p.Y307H	KCNA6_ENST00000433855.1_Missense_Mutation_p.Y307H|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	307					potassium ion transport (GO:0006813)|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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TATCTTCCCCTACTTCATCAC	0.592										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(919-921)Tac>Cac		potassium voltage-gated channel, shaker-related subfamily, member 6							80.0	71.0	74.0					12																	4920126		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920126T>C	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.919T>C	12.37:g.4920126T>C	ENSP00000280684:p.Tyr307His	HNSCC(72;0.22)	Somatic				KCNA6_ENST00000280684.3_Missense_Mutation_p.Y307H	p.Y307H	NM_002235.3	NP_002226.1	WXS	Illumina GAIIx	Phase_I	P17658	KCNA6_HUMAN			1	1785	+			307						Missense_Mutation	SNP	ENST00000280684.3	37	c.919T>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	t	17.45	3.392880	0.62066	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98617	-5.03;-5.03	5.28	4.14	0.48551	Ion transport (1);	0.061213	0.64402	D	0.000002	D	0.99287	0.9751	H	0.94462	3.54	0.46131	D	0.998881	D	0.89917	1.0	D	0.87578	0.998	D	0.99044	1.0825	10	0.87932	D	0	.	11.9193	0.52783	0.0:0.0:0.1458:0.8542	.	307	P17658	KCNA6_HUMAN	H	307	ENSP00000408321:Y307H;ENSP00000280684:Y307H	ENSP00000280684:Y307H	Y	+	1	0	KCNA6	4790387	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.088000	0.71371	1.030000	0.39839	-0.256000	0.11100	TAC		0.592	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		4	181	0	0	0	1	0	4	181				
ADAMTS12	81792	broad.mit.edu	37	5	33576716	33576716	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:33576716G>A	ENST00000504830.1	-	19	3750	c.3415C>T	c.(3415-3417)Cct>Tct	p.P1139S	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1054S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1139	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1139S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGAGTCACAGGCCAAGTGATA	0.483										HNSCC(64;0.19)																												ENST00000504830.1																			1	Substitution - Missense(1)	p.P1139S(1)	kidney(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3415-3417)Cct>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 12							103.0	97.0	99.0					5																	33576716		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576716G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3415C>T	5.37:g.33576716G>A	ENSP00000422554:p.Pro1139Ser	HNSCC(64;0.19)	Somatic				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1054S	p.P1139S	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	P58397	ATS12_HUMAN			19	3750	-			1139			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3415C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945198	0.34283	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57273	0.41;0.41	5.33	5.33	0.75918	.	0.532611	0.20110	N	0.099027	T	0.34106	0.0886	N	0.14661	0.345	0.80722	D	1	B;B	0.23249	0.082;0.049	B;B	0.28011	0.085;0.024	T	0.12811	-1.0533	10	0.09084	T	0.74	.	12.3267	0.55015	0.0:0.1832:0.8168:0.0	.	1054;1139	P58397-3;P58397	.;ATS12_HUMAN	S	1139;1054	ENSP00000422554:P1139S;ENSP00000344847:P1054S	ENSP00000344847:P1054S	P	-	1	0	ADAMTS12	33612473	0.905000	0.30787	0.982000	0.44146	0.742000	0.42306	2.554000	0.45845	2.778000	0.95560	0.655000	0.94253	CCT		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		300	165	0	0	0	1	0	300	165				
OR52W1	120787	broad.mit.edu	37	11	6220953	6220953	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6220953T>C	ENST00000311352.2	+	1	578	c.500T>C	c.(499-501)cTg>cCg	p.L167P	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCCACTGCTGGTGGCAAAG	0.542																																						ENST00000311352.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(499-501)cTg>cCg		olfactory receptor, family 52, subfamily W, member 1							140.0	102.0	115.0					11																	6220953		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6220953T>C	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.500T>C	11.37:g.6220953T>C	ENSP00000309673:p.Leu167Pro		Somatic					p.L167P	NM_001005178.1	NP_001005178.1	WXS	Illumina GAIIx	Phase_I	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	578	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	167					Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.500T>C	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.484271	0.63962	.	.	ENSG00000175485	ENST00000311352	T	0.00174	8.62	5.95	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30742	N	0.008968	T	0.00356	0.0011	M	0.84326	2.69	0.58432	D	0.999998	P	0.51791	0.948	P	0.50570	0.644	T	0.77659	-0.2505	10	0.87932	D	0	.	8.5805	0.33626	0.1284:0.0:0.1343:0.7373	.	167	Q6IF63	O52W1_HUMAN	P	167	ENSP00000309673:L167P	ENSP00000309673:L167P	L	+	2	0	OR52W1	6177529	0.759000	0.28416	1.000000	0.80357	0.980000	0.70556	2.759000	0.47573	1.041000	0.40125	0.533000	0.62120	CTG		0.542	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		4	176	0	0	0	1	0	4	176				
PAN2	9924	broad.mit.edu	37	12	56726598	56726598	+	Splice_Site	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56726598C>T	ENST00000425394.2	-	2	657	c.281G>A	c.(280-282)gGg>gAg	p.G94E	PAN2_ENST00000440411.3_Splice_Site_p.G94E|PAN2_ENST00000257931.5_Splice_Site_p.G94E|PAN2_ENST00000548043.1_Splice_Site_p.G94E	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGTTCTTACCCCGTGGCTCCC	0.522																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e2+1		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							132.0	133.0	133.0					12																	56726598		2203	4300	6503	SO:0001630	splice_region_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56726598C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.282+1G>A	12.37:g.56726598C>T			Somatic				PAN2_ENST00000257931.5_Splice_Site_p.G94_splice|PAN2_ENST00000440411.3_Splice_Site_p.G94_splice|PAN2_ENST00000548043.1_Splice_Site_p.G94_splice	p.G94_splice	NM_001127460.2	NP_001120932.1	WXS	Illumina GAIIx	Phase_I	Q504Q3	PAN2_HUMAN			2	657	-			94						Splice_Site	SNP	ENST00000425394.2	37	c.282_splice	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517542	0.85495	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.9	3.9	0.45041	WD40 repeat-like-containing domain (1);	0.057467	0.64402	D	0.000001	T	0.81250	0.4783	L	0.49350	1.555	0.53005	D	0.999966	D;P;D	0.59357	0.985;0.9;0.975	P;P;P	0.51999	0.687;0.49;0.545	T	0.79605	-0.1734	10	0.28530	T	0.3	-15.1618	15.2019	0.73147	0.0:1.0:0.0:0.0	.	94;94;94	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	E	94	ENSP00000401721:G94E;ENSP00000388231:G94E;ENSP00000257931:G94E;ENSP00000449861:G94E	ENSP00000257931:G94E	G	-	2	0	PAN2	55012865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.201000	0.77847	2.190000	0.69967	0.484000	0.47621	GGG		0.522	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	Missense_Mutation	12	1874	0	0	0	1	0	12	1874				
SPRYD4	283377	broad.mit.edu	37	12	56863124	56863124	+	Silent	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56863124C>G	ENST00000338146.5	+	2	462	c.387C>G	c.(385-387)cgC>cgG	p.R129R	MIP_ENST00000555551.1_5'Flank	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGCCCAGCGCAAGTGGTACA	0.567																																						ENST00000338146.5																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						c.(385-387)cgC>cgG		SPRY domain containing 4							136.0	126.0	129.0					12																	56863124		2203	4300	6503	SO:0001819	synonymous_variant	283377					nucleus		g.chr12:56863124C>G	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.387C>G	12.37:g.56863124C>G			Somatic					p.R129R	NM_207344.3	NP_997227.1	WXS	Illumina GAIIx	Phase_I	Q8WW59	SPRY4_HUMAN			2	462	+			129			B30.2/SPRY.		A8K7A5	Silent	SNP	ENST00000338146.5	37	c.387C>G	CCDS8920.1																																																																																				0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		7	1193	0	0	0	1	0	7	1193				
MPG	4350	broad.mit.edu	37	16	133207	133207	+	Missense_Mutation	SNP	G	G	A	rs562548652		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:133207G>A	ENST00000219431.4	+	4	703	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.V141M	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	158					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)	p.V158M(1)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GACCCTGTACGTGTACATCAT	0.642								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0	5008	,	,		17216	0.001		0.0	False		,,,				2504	0.0					ENST00000219431.4																			1	Substitution - Missense(1)	p.V158M(1)	kidney(1)	endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(472-474)Gtg>Atg	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							118.0	123.0	121.0					16																	133207		2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133207G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.472G>A	16.37:g.133207G>A	ENSP00000219431:p.Val158Met		Somatic				MPG_ENST00000397817.1_Missense_Mutation_p.V141M	p.V158M	NM_002434.3	NP_002425.2	WXS	Illumina GAIIx	Phase_I	P29372	3MG_HUMAN			4	703	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	158					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.472G>A	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914964	0.92178	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.41	5.41	0.78517	Formyl transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	M	0.87456	2.885	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69800	-0.5047	10	0.87932	D	0	-14.2049	18.167	0.89731	0.0:0.0:1.0:0.0	.	141;153;158	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	M	141;141;153;158	ENSP00000388097:V141M;ENSP00000380918:V141M;ENSP00000348809:V153M;ENSP00000219431:V158M	ENSP00000219431:V158M	V	+	1	0	MPG	73207	1.000000	0.71417	0.964000	0.40570	0.927000	0.56198	7.917000	0.87498	2.529000	0.85273	0.462000	0.41574	GTG		0.642	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			313	21	0	0	0	1	0	313	21				
TENC1	23371	broad.mit.edu	37	12	53445743	53445743	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53445743C>T	ENST00000314250.6	+	2	470	c.180C>T	c.(178-180)tgC>tgT	p.C60C	TENC1_ENST00000546602.1_Silent_p.C60C|TENC1_ENST00000549700.1_Silent_p.C60C|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Silent_p.C60C|TENC1_ENST00000314276.3_Silent_p.C70C|TENC1_ENST00000451358.1_Silent_p.C60C|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_5'UTR|RP11-983P16.4_ENST00000546793.1_RNA	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	60					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCGTTTCGTGCAGAGGTGAGG	0.527																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(178-180)tgC>tgT		tensin like C1 domain containing phosphatase (tensin 2)							210.0	168.0	182.0					12																	53445743		2203	4300	6503	SO:0001819	synonymous_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53445743C>T	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.180C>T	12.37:g.53445743C>T			Somatic				RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000549700.1_Silent_p.C60C|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Silent_p.C60C|TENC1_ENST00000552570.1_Silent_p.C60C|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000451358.1_Silent_p.C60C|TENC1_ENST00000314276.3_Silent_p.C70C	p.C60C	NM_170754.2	NP_736610.2	WXS	Illumina GAIIx	Phase_I	Q63HR2	TENC1_HUMAN			2	470	+			60					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.180C>T	CCDS8843.1																																																																																				0.527	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		5	256	0	0	0	1	0	5	256				
RAB3GAP2	25782	broad.mit.edu	37	1	220445587	220445587	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:220445587G>A	ENST00000358951.2	-	1	209	c.93C>T	c.(91-93)agC>agT	p.S31S	RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	31					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCAAGGCGCCGCTGAGGATCT	0.652																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(91-93)agC>agT		RAB3 GTPase activating protein subunit 2 (non-catalytic)							34.0	35.0	35.0					1																	220445587		2203	4300	6503	SO:0001819	synonymous_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220445587G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.93C>T	1.37:g.220445587G>A			Somatic				RAB3GAP2_ENST00000462353.1_5'UTR	p.S31S	NM_012414.3	NP_036546.2	WXS	Illumina GAIIx	Phase_I	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	1	209	-			31					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	c.93C>T	CCDS31028.1																																																																																				0.652	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		3	29	0	0	0	1	0	3	29				
IGHV7-81	28378	broad.mit.edu	37	14	107282796	107282796	+	RNA	SNP	G	G	A	rs373599621		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:107282796G>A	ENST00000390639.2	-	0	400									immunoglobulin heavy variable 7-81 (non-functional)																		GGTGTATCTCGCACAGTAATA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		22927	0.0		0.001	False		,,,				2504	0.0					ENST00000390639.2																			0															G		2,4202		0,2,2100	99.0	112.0	108.0			0.4	0.0	14		108	0,8468		0,0,4234	no	intergenic				0,2,6334	AA,AG,GG		0.0,0.0476,0.0158			107282796	2,12670	2102	4234	6336			28378							g.chr14:107282796G>A	Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107282796G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	400	-									RNA	SNP	ENST00000390639.2	37																																																																																						0.517	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323700.2	NG_001019		5	391	0	0	0	1	0	5	391				
DNAH7	56171	broad.mit.edu	37	2	196729403	196729403	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:196729403T>C	ENST00000312428.6	-	41	7076	c.6976A>G	c.(6976-6978)Att>Gtt	p.I2326V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2326	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.I2326V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCTGGAAATTCTGCTGATG	0.463																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.I2326V(1)	kidney(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6976-6978)Att>Gtt		dynein, axonemal, heavy chain 7							120.0	119.0	120.0					2																	196729403		1958	4168	6126	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729403T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6976A>G	2.37:g.196729403T>C	ENSP00000311273:p.Ile2326Val		Somatic					p.I2326V	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			41	7076	-			2326			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6976A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575799	0.28092	.	.	ENSG00000118997	ENST00000312428	T	0.51817	0.69	4.7	3.54	0.40534	Dynein heavy chain, P-loop containing D4 domain (1);	0.058457	0.64402	D	0.000003	T	0.60314	0.2259	M	0.64567	1.98	0.80722	D	1	D	0.62365	0.991	D	0.66716	0.946	T	0.57717	-0.7763	10	0.40728	T	0.16	.	9.9144	0.41425	0.0:0.0816:0.0:0.9184	.	2326	Q8WXX0	DYH7_HUMAN	V	2326	ENSP00000311273:I2326V	ENSP00000311273:I2326V	I	-	1	0	DNAH7	196437648	1.000000	0.71417	0.853000	0.33588	0.101000	0.19017	7.846000	0.86887	0.842000	0.35045	-0.467000	0.05162	ATT		0.463	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		39	78	0	0	0	1	0	39	78				
PLEKHA8P1	51054	broad.mit.edu	37	12	45568052	45568052	+	RNA	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:45568052T>C	ENST00000256692.5	-	0	633					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.I33V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACATCAATTCCCTCCTCA	0.428																																						ENST00000256692.5																			1	Substitution - Missense(1)	p.I33V(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26															233.0	225.0	228.0					12																	45568052		2203	4300	6503			51054							g.chr12:45568052T>C	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568052T>C			Somatic						NR_037144.1		WXS	Illumina GAIIx	Phase_I					0	633	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.428	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		234	280	0	0	0	1	0	234	280				
MUC16	94025	broad.mit.edu	37	19	9024947	9024947	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9024947G>A	ENST00000397910.4	-	16	37118	c.36915C>T	c.(36913-36915)cgC>cgT	p.R12305R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12307	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTCAAGGCGGTGGGTGC	0.547																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36913-36915)cgC>cgT		mucin 16, cell surface associated							92.0	88.0	89.0					19																	9024947		1922	4128	6050	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9024947G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36915C>T	19.37:g.9024947G>A			Somatic					p.R12305R	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			16	37118	-			12307			SEA 2.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36915C>T	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	497	0	0	0	1	0	7	497				
BMP1	649	broad.mit.edu	37	8	22037279	22037279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:22037279G>A	ENST00000306385.5	+	7	1568	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	BMP1_ENST00000397816.3_Missense_Mutation_p.G300S|BMP1_ENST00000397814.3_Missense_Mutation_p.G300S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G300S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	300	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACCTCCCATTGGCCAAAGGAC	0.572																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(898-900)Ggc>Agc		bone morphogenetic protein 1							121.0	96.0	105.0					8																	22037279		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037279G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.898G>A	8.37:g.22037279G>A	ENSP00000305714:p.Gly300Ser		Somatic				BMP1_ENST00000397814.3_Missense_Mutation_p.G300S|BMP1_ENST00000397816.3_Missense_Mutation_p.G300S|BMP1_ENST00000306349.8_Missense_Mutation_p.G300S|BMP1_ENST00000354870.5_3'UTR	p.G300S	NM_006129.4	NP_006120.1	WXS	Illumina GAIIx	Phase_I	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	7	1568	+			300			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.898G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599118	0.96614	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.67	5.67	0.87782	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.39341	U	0.001397	D	0.95332	0.8485	H	0.96662	3.86	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;1.0	D;D;D;D	0.97110	0.982;1.0;0.992;0.987	D	0.96225	0.9163	10	0.59425	D	0.04	.	18.5343	0.91004	0.0:0.0:1.0:0.0	.	300;373;300;300	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	300	ENSP00000305714:G300S;ENSP00000380917:G300S;ENSP00000306121:G300S;ENSP00000380915:G300S	ENSP00000306121:G300S	G	+	1	0	BMP1	22093224	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.864000	0.99589	2.666000	0.90696	0.561000	0.74099	GGC		0.572	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		11	834	0	0	0	1	0	11	834				
MCM2	4171	broad.mit.edu	37	3	127339607	127339607	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:127339607G>A	ENST00000265056.7	+	14	2576	c.2332G>A	c.(2332-2334)Gcg>Acg	p.A778T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	778					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGAGGCCCACGCGCGCATCCA	0.582																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2332-2334)Gcg>Acg		minichromosome maintenance complex component 2							119.0	110.0	113.0					3																	127339607		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127339607G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2332G>A	3.37:g.127339607G>A	ENSP00000265056:p.Ala778Thr		Somatic				MCM2_ENST00000468414.1_3'UTR	p.A778T	NM_004526.2	NP_004517.2	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			14	2576	+			778					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2332G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782538	0.70222	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.20598	2.06	5.7	4.83	0.62350	.	0.047367	0.85682	D	0.000000	T	0.51449	0.1675	H	0.97896	4.1	0.80722	D	1	B;B;P	0.50443	0.021;0.287;0.935	B;B;P	0.48921	0.01;0.172;0.595	T	0.72609	-0.4241	10	0.87932	D	0	-29.4073	14.9022	0.70687	0.0688:0.0:0.9312:0.0	.	828;648;778	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	T	778;682;828	ENSP00000265056:A778T	ENSP00000265056:A778T	A	+	1	0	MCM2	128822297	1.000000	0.71417	0.865000	0.33974	0.014000	0.08584	9.288000	0.96055	1.420000	0.47138	-0.156000	0.13503	GCG		0.582	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			11	1699	0	0	0	1	0	11	1699				
ZNF70	7621	broad.mit.edu	37	22	24086504	24086504	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:24086504G>A	ENST00000341976.3	-	2	1284	c.824C>T	c.(823-825)aCc>aTc	p.T275I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTTCTTTAGGGTGTGGATCTT	0.507																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(823-825)aCc>aTc		zinc finger protein 70							71.0	69.0	70.0					22																	24086504		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086504G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.824C>T	22.37:g.24086504G>A	ENSP00000339314:p.Thr275Ile		Somatic					p.T275I	NM_021916.2	NP_068735.1	WXS	Illumina GAIIx	Phase_I	Q9UC06	ZNF70_HUMAN			2	1284	-			275						Missense_Mutation	SNP	ENST00000341976.3	37	c.824C>T	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133143	0.37630	.	.	ENSG00000187792	ENST00000341976	T	0.25749	1.78	3.34	3.34	0.38264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30448	0.0765	M	0.70108	2.13	0.27167	N	0.961024	P	0.42010	0.768	B	0.38921	0.285	T	0.28964	-1.0027	9	0.87932	D	0	-26.1717	13.0199	0.58779	0.0:0.0:1.0:0.0	.	275	Q9UC06	ZNF70_HUMAN	I	275	ENSP00000339314:T275I	ENSP00000339314:T275I	T	-	2	0	ZNF70	22416504	1.000000	0.71417	0.991000	0.47740	0.828000	0.46876	4.711000	0.61881	2.175000	0.68902	0.456000	0.33151	ACC		0.507	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		6	591	0	0	0	1	0	6	591				
MORC2	22880	broad.mit.edu	37	22	31342438	31342438	+	Splice_Site	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:31342438T>C	ENST00000397641.3	-	6	726		c.e6-2		MORC2_ENST00000215862.4_Splice_Site			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ATTGAGCCCCTGAAAAGGAAA	0.468																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.e7-2		MORC family CW-type zinc finger 2							134.0	120.0	125.0					22																	31342438		2203	4300	6503	SO:0001630	splice_region_variant	22880						ATP binding|zinc ion binding	g.chr22:31342438T>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.318-2A>G	22.37:g.31342438T>C			Somatic				MORC2_ENST00000397641.2_Splice_Site		NM_014941.1	NP_055756.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X9	MORC2_HUMAN			7	1495	-								B2RNB1|Q9UF28|Q9Y6V2	Splice_Site	SNP	ENST00000397641.3	37			.	.	.	.	.	.	.	.	.	.	T	15.21	2.765177	0.49574	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1388	0.72595	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC2	29672438	1.000000	0.71417	0.988000	0.46212	0.372000	0.29890	7.525000	0.81892	2.160000	0.67779	0.454000	0.30748	.		0.468	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	Intron	4	315	0	0	0	1	0	4	315				
FAM71A	149647	broad.mit.edu	37	1	212798349	212798349	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:212798349C>T	ENST00000294829.3	+	1	561	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	44						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAAGTATGCACCGATATTTGA	0.502																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(130-132)Ccg>Tcg		family with sequence similarity 71, member A							177.0	159.0	165.0					1																	212798349		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798349C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.130C>T	1.37:g.212798349C>T	ENSP00000294829:p.Pro44Ser		Somatic				RP11-338C15.5_ENST00000427949.1_RNA	p.P44S	NM_153606.3	NP_705834.2	WXS	Illumina GAIIx	Phase_I	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	561	+			44					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.130C>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565822	0.65651	.	.	ENSG00000162771	ENST00000294829	T	0.10005	2.92	4.57	4.57	0.56435	.	0.315276	0.27455	N	0.019281	T	0.38772	0.1053	M	0.89658	3.05	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.31364	-0.9946	10	0.87932	D	0	-15.9322	13.0839	0.59129	0.0:1.0:0.0:0.0	.	44	Q8IYT1	FA71A_HUMAN	S	44	ENSP00000294829:P44S	ENSP00000294829:P44S	P	+	1	0	FAM71A	210864972	0.201000	0.23410	0.034000	0.17996	0.985000	0.73830	2.032000	0.41127	2.543000	0.85770	0.585000	0.79938	CCG		0.502	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		6	782	0	0	0	1	0	6	782				
SYT15	83849	broad.mit.edu	37	10	46961983	46961983	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:46961983G>C	ENST00000374321.4	-	8	1319	c.1253C>G	c.(1252-1254)aCc>aGc	p.T418S	SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000449358.2_5'Flank|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.T471S	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	418						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGGCTCCGTGGTGCGGCAGAG	0.647																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1411-1413)aCc>aGc		synaptotagmin XV							50.0	60.0	56.0					10																	46961983		2072	4198	6270	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46961983G>C	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1253C>G	10.37:g.46961983G>C	ENSP00000363441:p.Thr418Ser		Somatic				SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.T418S|SYT15_ENST00000374325.3_Intron	p.T471S			WXS	Illumina GAIIx	Phase_I	Q9BQS2	SYT15_HUMAN			7	1999	-			418					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1412C>G	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073779	0.20147	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.11277	2.82;2.79	4.71	0.303	0.15791	C2 calcium/lipid-binding domain, CaLB (1);	1.545080	0.03306	N	0.189802	T	0.06142	0.0159	N	0.16478	0.41	0.21627	N	0.999617	B	0.02656	0.0	B	0.04013	0.001	T	0.32107	-0.9919	10	0.09338	T	0.73	.	3.7083	0.08410	0.084:0.2607:0.4277:0.2276	.	418	Q9BQS2	SYT15_HUMAN	S	257;471;418	ENSP00000363443:T471S;ENSP00000363441:T418S	ENSP00000363441:T418S	T	-	2	0	SYT15	46381989	0.056000	0.20664	0.000000	0.03702	0.005000	0.04900	0.721000	0.25911	0.013000	0.14918	-1.598000	0.00824	ACC		0.647	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		6	446	0	0	0	1	0	6	446				
CSRNP1	64651	broad.mit.edu	37	3	39185630	39185630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:39185630G>A	ENST00000273153.5	-	4	955	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	CSRNP1_ENST00000514182.1_Nonsense_Mutation_p.Q260*	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	260	Cys-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACCACACCTGGCACTTGATG	0.592																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(778-780)Cag>Tag		cysteine-serine-rich nuclear protein 1							42.0	43.0	43.0					3																	39185630		2203	4300	6503	SO:0001587	stop_gained	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39185630G>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.778C>T	3.37:g.39185630G>A	ENSP00000273153:p.Gln260*		Somatic				CSRNP1_ENST00000514182.1_Nonsense_Mutation_p.Q260*	p.Q260*	NM_033027.3	NP_149016.2	WXS	Illumina GAIIx	Phase_I	Q96S65	CSRN1_HUMAN			4	955	-			260			Cys-rich.		Q69YY5	Nonsense_Mutation	SNP	ENST00000273153.5	37	c.778C>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209276	0.95069	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-33.5815	18.6818	0.91548	0.0:0.0:1.0:0.0	.	.	.	.	X	260	.	ENSP00000273153:Q260X	Q	-	1	0	CSRNP1	39160634	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	9.835000	0.99442	2.475000	0.83589	0.561000	0.74099	CAG		0.592	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		4	249	0	0	0	1	0	4	249				
RPL36AL	6166	broad.mit.edu	37	14	50085614	50085614	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:50085614A>G	ENST00000298289.6	-	2	368	c.209T>C	c.(208-210)cTg>cCg	p.L70P	RP11-649E7.5_ENST00000555043.1_RNA|MGAT2_ENST00000305386.2_5'Flank	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	70					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					AACACATTCCAGCCTTAGCAC	0.488																																						ENST00000298289.6																			0											c.(208-210)cTg>cCg		ribosomal protein L36a-like							117.0	111.0	113.0					14																	50085614		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085614A>G	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.209T>C	14.37:g.50085614A>G	ENSP00000346012:p.Leu70Pro		Somatic					p.L70P	NM_001001.4	NP_000992.1	WXS	Illumina GAIIx	Phase_I	Q969Q0	RL36L_HUMAN			2	368	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		70					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.209T>C	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625776	0.66901	.	.	ENSG00000165502	ENST00000298289	T	0.57907	0.37	4.16	4.16	0.48862	Ribosomal protein, zinc-binding domain (1);	0.000000	0.56097	U	0.000024	T	0.61073	0.2318	.	.	.	0.58432	D	0.999999	P	0.52463	0.953	P	0.52793	0.709	T	0.66308	-0.5956	9	0.72032	D	0.01	-30.6386	11.9374	0.52880	1.0:0.0:0.0:0.0	.	70	Q969Q0	RL36L_HUMAN	P	70	ENSP00000346012:L70P	ENSP00000346012:L70P	L	-	2	0	RPL36AL	49155364	1.000000	0.71417	0.904000	0.35570	0.796000	0.44982	8.661000	0.91125	2.142000	0.66516	0.472000	0.43445	CTG		0.488	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			6	609	0	0	0	1	0	6	609				
ODF3L1	161753	broad.mit.edu	37	15	76019874	76019874	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:76019874G>A	ENST00000332145.2	+	4	1041	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	273								p.R273H(1)		kidney(1)|lung(1)	2						ATCGACATTCGTGACTGAGGC	0.527																																						ENST00000332145.2																			1	Substitution - Missense(1)	p.R273H(1)	kidney(1)	kidney(1)|lung(1)	2						c.(817-819)cGt>cAt		outer dense fiber of sperm tails 3-like 1							67.0	65.0	66.0					15																	76019874		2197	4294	6491	SO:0001583	missense	161753							g.chr15:76019874G>A	BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.818G>A	15.37:g.76019874G>A	ENSP00000329584:p.Arg273His		Somatic					p.R273H	NM_175881.3	NP_787077.1	WXS	Illumina GAIIx	Phase_I	Q8IXM7	OD3L1_HUMAN			4	1041	+			273						Missense_Mutation	SNP	ENST00000332145.2	37	c.818G>A	CCDS10285.1	.	.	.	.	.	.	.	.	.	.	.	10.58	1.389715	0.25118	.	.	ENSG00000182950	ENST00000332145	T	0.30448	1.53	4.86	-2.9	0.05648	.	1.769360	0.02906	N	0.136026	T	0.10594	0.0259	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21586	-1.0241	10	0.42905	T	0.14	-2.5018	5.4919	0.16781	0.4993:0.1472:0.3535:0.0	.	273	Q8IXM7	OD3L1_HUMAN	H	273	ENSP00000329584:R273H	ENSP00000329584:R273H	R	+	2	0	ODF3L1	73806929	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.548000	0.02184	-0.360000	0.08138	-1.036000	0.02392	CGT		0.527	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286473.1	NM_175881		10	229	0	0	0	1	0	10	229				
LLGL1	3996	broad.mit.edu	37	17	18136100	18136100	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18136100G>T	ENST00000316843.4	+	4	472	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	126					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.G126C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CAGCCGGCCCGGCTTTGATGG	0.607																																						ENST00000316843.4																			2	Substitution - Missense(2)	p.G126C(2)	lung(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(376-378)Ggc>Tgc		lethal giant larvae homolog 1 (Drosophila)							57.0	61.0	59.0					17																	18136100		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18136100G>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.376G>T	17.37:g.18136100G>T	ENSP00000321537:p.Gly126Cys		Somatic					p.G126C	NM_004140.3	NP_004131.3	WXS	Illumina GAIIx	Phase_I	Q15334	L2GL1_HUMAN			4	472	+	all_neural(463;0.228)		126					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.376G>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935869	0.52972	.	.	ENSG00000131899	ENST00000316843	T	0.05649	3.41	5.33	0.0866	0.14447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.145141	0.64402	D	0.000007	T	0.14313	0.0346	M	0.67397	2.05	0.41770	D	0.989761	D	0.65815	0.995	P	0.61275	0.886	T	0.01684	-1.1296	10	0.62326	D	0.03	-18.297	5.4787	0.16710	0.2762:0.0:0.5924:0.1314	.	126	Q15334	L2GL1_HUMAN	C	126	ENSP00000321537:G126C	ENSP00000321537:G126C	G	+	1	0	LLGL1	18076825	1.000000	0.71417	0.386000	0.26170	0.546000	0.35178	3.775000	0.55349	-0.101000	0.12219	-0.195000	0.12781	GGC		0.607	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			3	101	1	0	6.4e-05	1	6.83212e-05	3	101				
CTRC	11330	broad.mit.edu	37	1	15769984	15769984	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:15769984C>T	ENST00000375949.4	+	5	453	c.427C>T	c.(427-429)Cca>Tca	p.P143S	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGCCTGCCAGAGAAGGA	0.582																																						ENST00000375949.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13						c.(427-429)Cca>Tca		chymotrypsin C (caldecrin)							175.0	160.0	165.0					1																	15769984		2203	4300	6503	SO:0001583	missense	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15769984C>T	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.427C>T	1.37:g.15769984C>T	ENSP00000365116:p.Pro143Ser		Somatic				CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	p.P143S	NM_007272.2	NP_009203.2	WXS	Illumina GAIIx	Phase_I	Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	453	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	143			Peptidase S1.		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	37	c.427C>T	CCDS156.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.834075	0.91036	.	.	ENSG00000162438	ENST00000375949	D	0.95069	-3.6	4.91	4.91	0.64330	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98487	1.0608	10	0.87932	D	0	-17.5638	16.8963	0.86101	0.0:1.0:0.0:0.0	.	143;143	A8MTQ9;Q99895	.;CTRC_HUMAN	S	143	ENSP00000365116:P143S	ENSP00000365116:P143S	P	+	1	0	CTRC	15642571	1.000000	0.71417	0.994000	0.49952	0.894000	0.52154	7.562000	0.82300	2.576000	0.86940	0.549000	0.68633	CCA		0.582	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		12	1063	0	0	0	1	0	12	1063				
BLZF1	8548	broad.mit.edu	37	1	169351307	169351307	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:169351307G>C	ENST00000367808.3	+	6	1228	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	BLZF1_ENST00000329281.2_Missense_Mutation_p.E269Q			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	269					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CAGATTATTGGAGGAGCTCTT	0.368																																						ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(805-807)Gag>Cag		basic leucine zipper nuclear factor 1							134.0	133.0	133.0					1																	169351307		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169351307G>C	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.805G>C	1.37:g.169351307G>C	ENSP00000356782:p.Glu269Gln		Somatic				BLZF1_ENST00000329281.2_Missense_Mutation_p.E269Q	p.E269Q			WXS	Illumina GAIIx	Phase_I	Q9H2G9	GO45_HUMAN			6	1228	+	all_hematologic(923;0.208)		269					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.805G>C	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825087	0.90955	.	.	ENSG00000117475	ENST00000367808;ENST00000329281	T;T	0.35048	1.33;1.33	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.68952	2.095	0.47994	D	0.999565	D	0.89917	1.0	D	0.74023	0.982	T	0.37911	-0.9685	9	0.33940	T	0.23	-11.2297	19.6793	0.95956	0.0:0.0:1.0:0.0	.	269	Q9H2G9	GO45_HUMAN	Q	269	ENSP00000356782:E269Q;ENSP00000327541:E269Q	ENSP00000327541:E269Q	E	+	1	0	BLZF1	167617931	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	7.509000	0.81698	2.651000	0.90000	0.555000	0.69702	GAG		0.368	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		4	407	0	0	0	1	0	4	407				
IRF6	3664	broad.mit.edu	37	1	209963949	209963949	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:209963949G>A	ENST00000367021.3	-	7	1123	c.951C>T	c.(949-951)tgC>tgT	p.C317C	IRF6_ENST00000542854.1_Silent_p.C222C|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	317					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCTTGCACTGGCACAGCCTGA	0.507										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(949-951)tgC>tgT		interferon regulatory factor 6							95.0	78.0	83.0					1																	209963949		2203	4300	6503	SO:0001819	synonymous_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963949G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.951C>T	1.37:g.209963949G>A		HNSCC(57;0.16)	Somatic				IRF6_ENST00000542854.1_Silent_p.C222C	p.C317C	NM_006147.3	NP_006138.1	WXS	Illumina GAIIx	Phase_I	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1123	-			317					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	ENST00000367021.3	37	c.951C>T	CCDS1492.1																																																																																				0.507	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		5	496	0	0	0	1	0	5	496				
NOTCH3	4854	broad.mit.edu	37	19	15276785	15276785	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:15276785T>A	ENST00000263388.2	-	30	5555	c.5480A>T	c.(5479-5481)cAg>cTg	p.Q1827L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1827					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTGAGCCCCCTGGCAGATCAG	0.602																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5479-5481)cAg>cTg		notch 3							74.0	62.0	66.0					19																	15276785		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276785T>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5480A>T	19.37:g.15276785T>A	ENSP00000263388:p.Gln1827Leu		Somatic					p.Q1827L	NM_000435.2	NP_000426.2	WXS	Illumina GAIIx	Phase_I	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5555	-			1827					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5480A>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907710	0.92107	.	.	ENSG00000074181	ENST00000263388	T	0.63913	-0.07	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.30901	N	0.008641	T	0.69531	0.3121	L	0.31526	0.94	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73275	-0.4034	10	0.87932	D	0	.	14.4745	0.67537	0.0:0.0:0.0:1.0	.	1827	Q9UM47	NOTC3_HUMAN	L	1827	ENSP00000263388:Q1827L	ENSP00000263388:Q1827L	Q	-	2	0	NOTCH3	15137785	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.774000	0.85478	2.251000	0.74343	0.533000	0.62120	CAG		0.602	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		4	157	0	0	0	1	0	4	157				
AKAP8L	26993	broad.mit.edu	37	19	15491165	15491165	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:15491165C>T	ENST00000397410.5	-	14	1839	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G509E|AKAP8_ENST00000269701.2_5'Flank|AC005785.2_ENST00000597164.2_RNA	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	570						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G570E(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCTGCGCCCCCTCGTCCAG	0.751																																						ENST00000397410.4																			2	Substitution - Missense(2)	p.G570E(2)	kidney(2)	central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1708-1710)gGg>gAg		A kinase (PRKA) anchor protein 8-like							7.0	8.0	8.0					19																	15491165		1960	4095	6055	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15491165C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1709G>A	19.37:g.15491165C>T	ENSP00000380557:p.Gly570Glu		Somatic				AKAP8L_ENST00000595465.1_Missense_Mutation_p.G509E|AC005785.2_ENST00000597164.1_RNA	p.G570E	NM_014371.2	NP_055186.2	WXS	Illumina GAIIx	Phase_I	Q9ULX6	AKP8L_HUMAN			14	1773	-			570	EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048).				B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1709G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251510	0.05867	.	.	ENSG00000011243	ENST00000397410	T	0.43688	0.94	4.59	3.53	0.40419	.	0.520128	0.18981	N	0.125884	T	0.27169	0.0666	N	0.19112	0.55	0.40738	D	0.982804	P;P	0.41748	0.761;0.761	B;B	0.43445	0.42;0.42	T	0.07673	-1.0760	10	0.02654	T	1	-16.6148	11.7805	0.52010	0.0:0.8218:0.1782:0.0	.	509;570	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	E	570	ENSP00000380557:G570E	ENSP00000380557:G570E	G	-	2	0	AKAP8L	15352165	0.007000	0.16637	0.124000	0.21820	0.244000	0.25665	0.580000	0.23803	1.115000	0.41800	0.561000	0.74099	GGG		0.751	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		3	12	0	0	0	1	0	3	12				
KRT78	196374	broad.mit.edu	37	12	53238349	53238349	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53238349C>T	ENST00000304620.4	-	5	978	c.915G>A	c.(913-915)caG>caA	p.Q305Q	KRT78_ENST00000359499.4_Silent_p.Q195Q	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	305	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCACCTTGGTCTGGTACAAGG	0.612																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(583-585)caG>caA		keratin 78							117.0	91.0	99.0					12																	53238349		2203	4300	6503	SO:0001819	synonymous_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238349C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.915G>A	12.37:g.53238349C>T			Somatic				KRT78_ENST00000304620.4_Silent_p.Q305Q	p.Q195Q			WXS	Illumina GAIIx	Phase_I	Q8N1N4	K2C78_HUMAN			5	596	-			305			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	c.585G>A	CCDS8840.1																																																																																				0.612	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		6	965	0	0	0	1	0	6	965				
ZNF597	146434	broad.mit.edu	37	16	3486699	3486699	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:3486699A>T	ENST00000301744.4	-	4	1235	c.1000T>A	c.(1000-1002)Tca>Aca	p.S334T		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	334					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(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						tttgagaatgagaAGAAATTG	0.468																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(1000-1002)Tca>Aca		zinc finger protein 597							60.0	58.0	58.0					16																	3486699		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3486699A>T	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.1000T>A	16.37:g.3486699A>T	ENSP00000301744:p.Ser334Thr		Somatic				LA16c-306E5.2_ENST00000575785.1_RNA	p.S334T	NM_152457.1	NP_689670.1	WXS	Illumina GAIIx	Phase_I	Q96LX8	ZN597_HUMAN			4	1235	-			334						Missense_Mutation	SNP	ENST00000301744.4	37	c.1000T>A	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404200	0.25378	.	.	ENSG00000167981	ENST00000301744	T	0.07216	3.21	4.64	3.52	0.40303	.	0.424440	0.17590	N	0.168808	T	0.08358	0.0208	L	0.35288	1.05	0.09310	N	1	P	0.50819	0.939	P	0.46419	0.516	T	0.25293	-1.0136	10	0.22706	T	0.39	-0.0307	8.9329	0.35682	0.8335:0.0:0.0:0.1665	.	334	Q96LX8	ZN597_HUMAN	T	334	ENSP00000301744:S334T	ENSP00000301744:S334T	S	-	1	0	ZNF597	3426700	.	.	0.001000	0.08648	0.152000	0.21847	.	.	0.863000	0.35553	0.528000	0.53228	TCA		0.468	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		4	193	0	0	0	1	0	4	193				
ZFHX3	463	broad.mit.edu	37	16	72829780	72829780	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:72829780T>C	ENST00000268489.5	-	9	7473	c.6801A>G	c.(6799-6801)ccA>ccG	p.P2267P	ZFHX3_ENST00000397992.5_Silent_p.P1353P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2267					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CATCATCCTTTGGGTAAGCAT	0.468																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6799-6801)ccA>ccG		zinc finger homeobox 3							204.0	196.0	199.0					16																	72829780		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829780T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6801A>G	16.37:g.72829780T>C			Somatic				ZFHX3_ENST00000397992.5_Silent_p.P1353P	p.P2267P	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	7473	-		Ovarian(137;0.13)	2267					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.6801A>G	CCDS10908.1																																																																																				0.468	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		6	1141	0	0	0	1	0	6	1141				
MDC1	9656	broad.mit.edu	37	6	30680601	30680601	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30680601T>A	ENST00000376406.3	-	5	1765	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.Q373L|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	373	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACTACCAGCCTGGCTCTCCTG	0.537								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1117-1119)cAg>cTg	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							85.0	95.0	92.0					6																	30680601		1509	2708	4217	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680601T>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1118A>T	6.37:g.30680601T>A	ENSP00000365588:p.Gln373Leu		Somatic				MDC1_ENST00000376405.2_Missense_Mutation_p.Q373L|MDC1-AS1_ENST00000442150.1_RNA	p.Q373L	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			5	1765	-			373			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1118A>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	9.830	1.188109	0.21954	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02258	4.44;4.37	3.92	-1.94	0.07571	.	1.036590	0.07732	N	0.945361	T	0.00356	0.0011	L	0.29908	0.895	0.09310	N	1	B;B;P;B	0.39250	0.002;0.002;0.665;0.002	B;B;B;B	0.26614	0.004;0.004;0.071;0.004	T	0.43637	-0.9379	10	0.02654	T	1	0.8193	4.801	0.13296	0.342:0.0:0.4527:0.2053	.	373;245;373;373	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	L	373;373;373;245	ENSP00000365588:Q373L;ENSP00000365587:Q373L	ENSP00000365587:Q373L	Q	-	2	0	MDC1	30788580	0.000000	0.05858	0.006000	0.13384	0.814000	0.46013	-0.516000	0.06282	-0.376000	0.07943	0.459000	0.35465	CAG		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		10	495	0	0	0	1	0	10	495				
ASTE1	28990	broad.mit.edu	37	3	130735185	130735185	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:130735185T>A	ENST00000264992.3	-	5	1955		c.e5-2		ATP2C1_ENST00000504381.1_3'UTR|ASTE1_ENST00000514044.1_Splice_Site|ATP2C1_ENST00000393221.4_3'UTR|ATP2C1_ENST00000359644.3_3'UTR|ATP2C1_ENST00000533801.2_3'UTR|ATP2C1_ENST00000513801.1_3'UTR|ATP2C1_ENST00000422190.2_3'UTR|ATP2C1_ENST00000507488.2_3'UTR|ATP2C1_ENST00000328560.8_3'UTR	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)						DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTTCCTTACCTAAATAAAGAA	0.398																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.e5-2		asteroid homolog 1 (Drosophila)							104.0	97.0	100.0					3																	130735185		2203	4300	6503	SO:0001630	splice_region_variant	28990				DNA repair		nuclease activity	g.chr3:130735185T>A	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1514-2A>T	3.37:g.130735185T>A			Somatic				ATP2C1_ENST00000513801.1_3'UTR|ATP2C1_ENST00000533801.2_3'UTR|ATP2C1_ENST00000507488.2_3'UTR|ATP2C1_ENST00000504381.1_3'UTR|ATP2C1_ENST00000422190.2_3'UTR|ATP2C1_ENST00000393221.4_3'UTR|ATP2C1_ENST00000359644.3_3'UTR|ASTE1_ENST00000514044.1_Splice_Site|ATP2C1_ENST00000328560.8_3'UTR		NM_014065.2	NP_054784.2	WXS	Illumina GAIIx	Phase_I	Q2TB18	ASTE1_HUMAN			5	1955	-								B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Splice_Site	SNP	ENST00000264992.3	37		CCDS3068.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011619	0.35511	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270;ENST00000505290	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4048	0.74868	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASTE1	132217875	0.538000	0.26394	0.200000	0.23457	0.025000	0.11179	1.071000	0.30666	2.179000	0.69175	0.533000	0.62120	.		0.398	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	Intron	6	261	0	0	0	1	0	6	261				
ZNRF4	148066	broad.mit.edu	37	19	5456414	5456414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5456414G>A	ENST00000222033.4	+	1	989	c.912G>A	c.(910-912)tgG>tgA	p.W304*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	304						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTTCACGTGGCACAACGACC	0.612																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(910-912)tgG>tgA		zinc and ring finger 4							84.0	92.0	90.0					19																	5456414		2138	4236	6374	SO:0001587	stop_gained	148066					integral to membrane	zinc ion binding	g.chr19:5456414G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.912G>A	19.37:g.5456414G>A	ENSP00000222033:p.Trp304*		Somatic					p.W304*	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	989	+			304					A8K886|O75866	Nonsense_Mutation	SNP	ENST00000222033.4	37	c.912G>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666476	0.47677	.	.	ENSG00000105428	ENST00000222033	.	.	.	4.27	-7.5	0.01351	.	0.191329	0.45361	U	0.000365	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-8.8031	2.0361	0.03540	0.3569:0.2501:0.2896:0.1033	.	.	.	.	X	304	.	ENSP00000222033:W304X	W	+	3	0	ZNRF4	5407414	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.784000	0.04633	-0.832000	0.04251	-1.579000	0.00862	TGG		0.612	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		5	230	0	0	0	1	0	5	230				
TNKS1BP1	85456	broad.mit.edu	37	11	57076704	57076704	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57076704A>G	ENST00000532437.1	-	5	3792	c.3481T>C	c.(3481-3483)Tgg>Cgg	p.W1161R	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.W1161R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1161	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGGTCAGTCCAGTCCACCGAG	0.602																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3481-3483)Tgg>Cgg		tankyrase 1 binding protein 1, 182kDa							57.0	56.0	56.0					11																	57076704		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076704A>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3481T>C	11.37:g.57076704A>G	ENSP00000437271:p.Trp1161Arg		Somatic				TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.W1161R	p.W1161R			WXS	Illumina GAIIx	Phase_I	Q9C0C2	TB182_HUMAN			5	3792	-		all_epithelial(135;0.21)	1161			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3481T>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203744	0.58234	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.63255	-0.03;-0.03	4.77	4.77	0.60923	.	0.000000	0.48767	D	0.000167	T	0.77398	0.4124	M	0.73962	2.25	0.33950	D	0.644328	D	0.76494	0.999	D	0.87578	0.998	D	0.85164	0.0994	10	0.66056	D	0.02	-11.7937	12.5208	0.56058	1.0:0.0:0.0:0.0	.	1161	Q9C0C2	TB182_HUMAN	R	1161	ENSP00000350990:W1161R;ENSP00000437271:W1161R	ENSP00000350990:W1161R	W	-	1	0	TNKS1BP1	56833280	0.995000	0.38212	1.000000	0.80357	0.656000	0.38851	3.037000	0.49775	1.798000	0.52647	0.379000	0.24179	TGG		0.602	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	137	0	0	0	1	0	4	137				
PDCD11	22984	broad.mit.edu	37	10	105199626	105199626	+	Splice_Site	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:105199626G>A	ENST00000369797.3	+	28	4242		c.e28+1			NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11						mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGGTCCTACGGTAGGTGCCTT	0.532																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.e28+1		programmed cell death 11							81.0	80.0	81.0					10																	105199626		2203	4300	6503	SO:0001630	splice_region_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105199626G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4148+1G>A	10.37:g.105199626G>A			Somatic						NM_014976.1	NP_055791.1	WXS	Illumina GAIIx	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	28	4242	+		Colorectal(252;0.0747)|Breast(234;0.128)						Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Splice_Site	SNP	ENST00000369797.3	37		CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397625	0.42512	.	.	ENSG00000148843	ENST00000369797	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0212	0.97504	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDCD11	105189616	1.000000	0.71417	0.992000	0.48379	0.016000	0.09150	7.749000	0.85096	2.735000	0.93741	0.561000	0.74099	.		0.532	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		Intron	4	246	0	0	0	1	0	4	246				
ATG9B	285973	broad.mit.edu	37	7	150715068	150715068	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150715068G>A	ENST00000377974.2	-	8	2017	c.1942C>T	c.(1942-1944)Cgt>Tgt	p.R648C	ATG9B_ENST00000605938.1_Missense_Mutation_p.R648C|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R134C			Q674R7	ATG9B_HUMAN	autophagy related 9B	648					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.R648C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGGGCACGAGGGCGGAAC	0.592											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000605938.1																			1	Substitution - Missense(1)	p.R648C(1)	kidney(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(1942-1944)Cgt>Tgt		autophagy related 9B							48.0	55.0	53.0					7																	150715068		2048	4174	6222	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150715068G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.1942C>T	7.37:g.150715068G>A	ENSP00000475005:p.Arg648Cys		Somatic	OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	ATG9B_ENST00000444312.1_Missense_Mutation_p.R134C|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R648C	p.R648C	NM_173681.5	NP_775952.4	WXS	Illumina GAIIx	Phase_I	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	2017	-	all_neural(206;0.219)		648					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.1942C>T		.	.	.	.	.	.	.	.	.	.	G	17.25	3.343059	0.61073	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.52	4.64	0.57946	.	0.068176	0.56097	D	0.000024	T	0.25827	0.0629	.	.	.	.	.	.	P	0.47191	0.891	B	0.37508	0.252	T	0.33471	-0.9867	7	0.20046	T	0.44	0.4673	9.4762	0.38873	0.0:0.1557:0.6828:0.1614	.	648	Q674R7	ATG9B_HUMAN	C	648;134;648	.	ENSP00000444232:R648C	R	-	1	0	AC010973.1	150346001	0.999000	0.42202	0.285000	0.24819	0.989000	0.77384	3.358000	0.52284	1.315000	0.45114	0.563000	0.77884	CGT		0.592	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		6	68	0	0	0	1	0	6	68				
SOGA3	387104	broad.mit.edu	37	6	127797264	127797264	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:127797264C>A	ENST00000525778.1	-	6	2652	c.1907G>T	c.(1906-1908)aGg>aTg	p.R636M	SOGA3_ENST00000556132.1_Missense_Mutation_p.R636M|SOGA3_ENST00000465909.2_Missense_Mutation_p.R636M|SOGA3_ENST00000368268.2_Missense_Mutation_p.R636M|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.R636M			Q5TF21	SOGA3_HUMAN	SOGA family member 3	636					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTCTGCTCCCTCATGAGCGG	0.627																																						ENST00000556132.1																			0											c.(1906-1908)aGg>aTg		SOGA family member 3							87.0	96.0	93.0					6																	127797264		2141	4271	6412	SO:0001583	missense	387104					integral to membrane		g.chr6:127797264C>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1907G>T	6.37:g.127797264C>A	ENSP00000434570:p.Arg636Met		Somatic				SOGA3_ENST00000368268.2_Missense_Mutation_p.R636M|SOGA3_ENST00000465909.2_Missense_Mutation_p.R636M|SOGA3_ENST00000525778.1_Missense_Mutation_p.R636M|SOGA3_ENST00000481848.2_Missense_Mutation_p.R636M	p.R636M	NM_001012279.2	NP_001012279.1	WXS	Illumina GAIIx	Phase_I	Q5TF21	CF174_HUMAN			6	2771	-			636						Missense_Mutation	SNP	ENST00000525778.1	37	c.1907G>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850099	0.71603	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.21	5.21	0.72293	.	0.091750	0.64402	D	0.000002	T	0.32823	0.0842	L	0.51422	1.61	0.58432	D	0.999995	P	0.51449	0.945	P	0.51866	0.682	T	0.04017	-1.0984	10	0.49607	T	0.09	-16.7521	18.7634	0.91862	0.0:1.0:0.0:0.0	.	636	Q5TF21	CF174_HUMAN	M	636	ENSP00000451768:R636M;ENSP00000357251:R636M;ENSP00000434570:R636M;ENSP00000435559:R636M	ENSP00000435559:R636M	R	-	2	0	C6orf174	127838957	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.932000	0.70121	2.440000	0.82611	0.555000	0.69702	AGG		0.627	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		14	431	1	0	7.93312e-07	1	8.64223e-07	14	431				
IFRD2	7866	broad.mit.edu	37	3	50326098	50326098	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50326098C>T	ENST00000429673.2	-	10	1259	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	IFRD2_ENST00000436390.1_Silent_p.V356V|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.V522V|IFRD2_ENST00000417626.2_Silent_p.V356V			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	420						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCATGTAGAGCACCTCAAAGC	0.617																																						ENST00000436390.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(1066-1068)gtG>gtA		interferon-related developmental regulator 2							70.0	75.0	73.0					3																	50326098		2136	4245	6381	SO:0001819	synonymous_variant	7866						binding	g.chr3:50326098C>T	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1260G>A	3.37:g.50326098C>T			Somatic				IFRD2_ENST00000429673.2_Silent_p.V420V|IFRD2_ENST00000417626.2_Silent_p.V356V|IFRD2_ENST00000336089.4_Silent_p.V522V	p.V356V			WXS	Illumina GAIIx	Phase_I	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	13	1565	-			420					Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	c.1068G>A	CCDS46831.1																																																																																				0.617	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		5	307	0	0	0	1	0	5	307				
MYH7	4625	broad.mit.edu	37	14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23885344G>A	ENST00000355349.3	-	34	4984	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R1608C(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGTTGCGGCTGCGTGTC	0.622																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.R1608C(1)	prostate(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4822-4824)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							175.0	141.0	153.0					14																	23885344		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885344G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4822C>T	14.37:g.23885344G>A	ENSP00000347507:p.Arg1608Cys		Somatic					p.R1608C	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4984	-	all_cancers(95;2.54e-05)		1608					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4822C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336384	0.60963	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.81499	-1.5	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.92401	0.7588	H	0.96048	3.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94351	0.7579	9	0.87932	D	0	.	14.4145	0.67139	0.0:0.0:0.8524:0.1476	.	1608	P12883	MYH7_HUMAN	C	1608;1613	ENSP00000347507:R1608C	ENSP00000347507:R1608C	R	-	1	0	MYH7	22955184	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.176000	0.42500	2.537000	0.85549	0.655000	0.94253	CGC		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	355	0	0	0	1	0	7	355				
RASEF	158158	broad.mit.edu	37	9	85611989	85611989	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:85611989G>A	ENST00000376447.3	-	14	2118	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	620					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACATCATACAGCAGCAAAACA	0.373																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1858-1860)Ctg>Ttg		RAS and EF-hand domain containing							169.0	154.0	159.0					9																	85611989		2203	4300	6503	SO:0001819	synonymous_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85611989G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1858C>T	9.37:g.85611989G>A			Somatic					p.L620L	NM_152573.2	NP_689786.2	WXS	Illumina GAIIx	Phase_I	Q8IZ41	RASEF_HUMAN			14	2118	-			620					A6NC29|Q96N04	Silent	SNP	ENST00000376447.3	37	c.1858C>T	CCDS6662.1																																																																																				0.373	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		5	435	0	0	0	1	0	5	435				
PSMD2	5708	broad.mit.edu	37	3	184020156	184020156	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:184020156A>T	ENST00000310118.4	+	6	1262		c.e6-1		EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site|PSMD2_ENST00000435761.1_Splice_Site	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTACTTTTGTAGTTGTGTGAA	0.413																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.e6-1		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						105.0	98.0	100.0					3																	184020156		2203	4300	6503	SO:0001630	splice_region_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184020156A>T	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.705-1A>T	3.37:g.184020156A>T			Somatic				PSMD2_ENST00000435761.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site		NM_002808.3	NP_002799.3	WXS	Illumina GAIIx	Phase_I	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1262	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)							B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Splice_Site	SNP	ENST00000310118.4	37		CCDS3258.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593119	0.66219	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096;ENST00000435761;ENST00000439383	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7078	0.77598	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMD2	185502850	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	8.496000	0.90485	2.295000	0.77249	0.491000	0.48974	.		0.413	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	Intron	10	397	0	0	0	1	0	10	397				
FYTTD1	84248	broad.mit.edu	37	3	197476896	197476896	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:197476896G>A	ENST00000241502.4	+	1	276	c.54G>A	c.(52-54)ccG>ccA	p.P18P	FYTTD1_ENST00000424384.2_5'Flank|KIAA0226_ENST00000273582.5_5'Flank|FYTTD1_ENST00000428395.2_Intron|FYTTD1_ENST00000415708.2_Intron|KIAA0226_ENST00000467303.1_5'Flank	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	18					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CTTCGCCGCCGCCGAAGGCCC	0.652																																						ENST00000241502.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(52-54)ccG>ccA		forty-two-three domain containing 1							17.0	20.0	19.0					3																	197476896		2202	4298	6500	SO:0001819	synonymous_variant	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197476896G>A	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.54G>A	3.37:g.197476896G>A			Somatic				FYTTD1_ENST00000415708.2_Intron|FYTTD1_ENST00000428395.2_Intron	p.P18P	NM_032288.6	NP_115664.2	WXS	Illumina GAIIx	Phase_I	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	1	276	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	18					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Silent	SNP	ENST00000241502.4	37	c.54G>A	CCDS3329.1																																																																																				0.652	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		3	23	0	0	0	1	0	3	23				
HOOK3	84376	broad.mit.edu	37	8	42841909	42841909	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:42841909A>G	ENST00000307602.4	+	15	1703	c.1503A>G	c.(1501-1503)ctA>ctG	p.L501L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	501					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGCAAATCTACGCAAGAATG	0.393			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1501-1503)ctA>ctG		hook microtubule-tethering protein 3							119.0	128.0	125.0					8																	42841909		2203	4300	6503	SO:0001819	synonymous_variant	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42841909A>G	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1503A>G	8.37:g.42841909A>G			Somatic					p.L501L	NM_032410.3	NP_115786.1	WXS	Illumina GAIIx	Phase_I	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		15	1703	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	501					D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	ENST00000307602.4	37	c.1503A>G	CCDS6139.1																																																																																				0.393	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		4	386	0	0	0	1	0	4	386				
GIT2	9815	broad.mit.edu	37	12	110429457	110429457	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:110429457G>A	ENST00000355312.3	-	2	160	c.161C>T	c.(160-162)aCa>aTa	p.T54I	GIT2_ENST00000354574.4_Missense_Mutation_p.T54I|GIT2_ENST00000338373.5_Missense_Mutation_p.T54I|GIT2_ENST00000320063.9_Missense_Mutation_p.T54I|GIT2_ENST00000343646.5_Missense_Mutation_p.T54I|GIT2_ENST00000553118.1_Missense_Mutation_p.T54I|GIT2_ENST00000360185.4_Missense_Mutation_p.T54I|GIT2_ENST00000457474.2_Missense_Mutation_p.T54I|GIT2_ENST00000547815.1_Missense_Mutation_p.T54I|GIT2_ENST00000356259.4_Missense_Mutation_p.T54I|GIT2_ENST00000361006.5_Missense_Mutation_p.T54I|GIT2_ENST00000551209.1_Missense_Mutation_p.T54I	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	54	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						AGGCCACGGTGTGTGTTTCAG	0.438																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(160-162)aCa>aTa		G protein-coupled receptor kinase interacting ArfGAP 2							152.0	133.0	139.0					12																	110429457		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110429457G>A	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.161C>T	12.37:g.110429457G>A	ENSP00000347464:p.Thr54Ile		Somatic				GIT2_ENST00000343646.5_Missense_Mutation_p.T54I|GIT2_ENST00000553118.1_Missense_Mutation_p.T54I|GIT2_ENST00000551209.1_Missense_Mutation_p.T54I|GIT2_ENST00000361006.5_Missense_Mutation_p.T54I|GIT2_ENST00000457474.2_Missense_Mutation_p.T54I|GIT2_ENST00000356259.4_Missense_Mutation_p.T54I|GIT2_ENST00000355312.3_Missense_Mutation_p.T54I|GIT2_ENST00000354574.4_Missense_Mutation_p.T54I|GIT2_ENST00000338373.5_Missense_Mutation_p.T54I|GIT2_ENST00000320063.9_Missense_Mutation_p.T54I|GIT2_ENST00000547815.1_Missense_Mutation_p.T54I	p.T54I			WXS	Illumina GAIIx	Phase_I	Q14161	GIT2_HUMAN			2	325	-			54			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.161C>T	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783085	0.70222	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.69358	2.11	0.80722	D	1	P;B;P;P;P;P;P	0.51147	0.647;0.291;0.942;0.942;0.727;0.62;0.566	B;B;P;P;P;P;B	0.52758	0.435;0.356;0.708;0.708;0.477;0.611;0.395	T	0.61397	-0.7071	10	0.72032	D	0.01	.	17.7451	0.88418	0.0:0.0:1.0:0.0	.	54;54;54;54;54;54;54	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	I	54	ENSP00000347464:T54I;ENSP00000353312:T54I;ENSP00000346585:T54I;ENSP00000340342:T54I;ENSP00000340938:T54I;ENSP00000348595:T54I;ENSP00000391813:T54I;ENSP00000354282:T54I;ENSP00000447465:T54I;ENSP00000448832:T54I;ENSP00000450348:T54I;ENSP00000323833:T54I	ENSP00000323833:T54I	T	-	2	0	GIT2	108913840	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.564000	0.73969	2.440000	0.82611	0.650000	0.86243	ACA		0.438	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		57	159	0	0	0	1	0	57	159				
MEPE	56955	broad.mit.edu	37	4	88766965	88766965	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:88766965T>C	ENST00000424957.3	+	4	1018	c.945T>C	c.(943-945)aaT>aaC	p.N315N	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Silent_p.N202N|MEPE_ENST00000497649.2_Silent_p.N291N|MEPE_ENST00000560249.1_Silent_p.N202N|MEPE_ENST00000361056.3_Silent_p.N315N|MEPE_ENST00000395102.4_Silent_p.N346N	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	315					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATGGTGGAAATACCATTGGAA	0.443																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(871-873)aaT>aaC		matrix extracellular phosphoglycoprotein							64.0	65.0	65.0					4																	88766965		2203	4300	6503	SO:0001819	synonymous_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766965T>C	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.945T>C	4.37:g.88766965T>C			Somatic				MEPE_ENST00000361056.3_Silent_p.N315N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Silent_p.N315N|MEPE_ENST00000395102.4_Silent_p.N346N|MEPE_ENST00000560249.1_Silent_p.N202N|MEPE_ENST00000540395.1_Silent_p.N202N	p.N291N			WXS	Illumina GAIIx	Phase_I	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	1251	+		Hepatocellular(203;0.114)	315					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	ENST00000424957.3	37	c.873T>C	CCDS3625.1																																																																																				0.443	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			7	402	0	0	0	1	0	7	402				
PARP8	79668	broad.mit.edu	37	5	49962953	49962953	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:49962953G>C	ENST00000281631.5	+	1	182	c.24G>C	c.(22-24)gaG>gaC	p.E8D	PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000503665.1_Missense_Mutation_p.E8D|PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000505554.1_5'Flank|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	8						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGGCAAGAGCGAATTCAGA	0.517																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(22-24)gaG>gaC		poly (ADP-ribose) polymerase family, member 8							123.0	131.0	128.0					5																	49962953		1368	2329	3697	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:49962953G>C	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.24G>C	5.37:g.49962953G>C	ENSP00000281631:p.Glu8Asp		Somatic				PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D|PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000503665.1_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR	p.E8D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	WXS	Illumina GAIIx	Phase_I	Q8N3A8	PARP8_HUMAN			1	182	+		Lung NSC(810;0.0305)|Breast(144;0.222)	8					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.24G>C	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746053	0.30955	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000503888;ENST00000502524;ENST00000515175;ENST00000281631;ENST00000513738;ENST00000503665;ENST00000514067;ENST00000503046;ENST00000503193	.	.	.	4.23	3.35	0.38373	.	0.000000	0.64402	D	0.000001	T	0.48040	0.1478	N	0.08118	0	0.80722	D	1	P;B	0.49696	0.927;0.007	D;B	0.67725	0.953;0.014	T	0.41734	-0.9492	8	.	.	.	-15.5843	11.0701	0.47997	0.0924:0.0:0.9076:0.0	.	8;8	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	D	8	.	.	E	+	3	2	PARP8	49998710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.399000	0.59703	0.978000	0.38470	0.556000	0.70494	GAG		0.517	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		4	373	0	0	0	1	0	4	373				
OBSCN	84033	broad.mit.edu	37	1	228400286	228400286	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:228400286G>A	ENST00000422127.1	+	2	846	c.802G>A	c.(802-804)Gag>Aag	p.E268K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E268K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E268K|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	268	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E268K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAAGCCCGAGACGGTGTG	0.687																																						ENST00000570156.2																			4	Substitution - Missense(4)	p.E268K(4)	kidney(4)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(802-804)Gag>Aag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							48.0	57.0	54.0					1																	228400286		2149	4230	6379	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400286G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.802G>A	1.37:g.228400286G>A	ENSP00000409493:p.Glu268Lys		Somatic				OBSCN_ENST00000284548.11_Missense_Mutation_p.E268K|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Missense_Mutation_p.E268K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.E268K	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			2	876	+		Prostate(94;0.0405)	268			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.802G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	16.17	3.047392	0.55110	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.67698	-0.28;-0.28	4.26	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.353687	0.26311	N	0.025106	T	0.66157	0.2761	N	0.21448	0.665	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.58331	0.837;0.539	T	0.63400	-0.6646	10	0.21540	T	0.41	.	16.7031	0.85364	0.0:0.0:1.0:0.0	.	268;268	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	268	ENSP00000284548:E268K;ENSP00000409493:E268K	ENSP00000284548:E268K	E	+	1	0	OBSCN	226466909	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	6.732000	0.74790	1.925000	0.55765	0.556000	0.70494	GAG		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		35	99	0	0	0	1	0	35	99				
BAZ1B	9031	broad.mit.edu	37	7	72877317	72877317	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:72877317C>A	ENST00000339594.4	-	12	3522	c.3184G>T	c.(3184-3186)Gtt>Ttt	p.V1062F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1062F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1062					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTGTTGCAACTTCAATGAGA	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3184-3186)Gtt>Ttt		bromodomain adjacent to zinc finger domain, 1B							178.0	184.0	182.0					7																	72877317		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72877317C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3184G>T	7.37:g.72877317C>A	ENSP00000342434:p.Val1062Phe		Somatic				BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1062F	p.V1062F	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			12	3522	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1062					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.3184G>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460132	0.84317	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.61040	0.14;0.14	5.78	5.78	0.91487	.	0.115804	0.64402	D	0.000019	T	0.61198	0.2328	L	0.29908	0.895	0.54753	D	0.999986	D	0.69078	0.997	P	0.61397	0.888	T	0.51593	-0.8686	10	0.08179	T	0.78	-19.9474	18.9869	0.92775	0.0:1.0:0.0:0.0	.	1062	Q9UIG0	BAZ1B_HUMAN	F	1062	ENSP00000342434:V1062F;ENSP00000385442:V1062F	ENSP00000342434:V1062F	V	-	1	0	BAZ1B	72515253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.234000	0.58658	2.738000	0.93877	0.591000	0.81541	GTT		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		11	491	1	0	3.07112e-06	1	3.32089e-06	11	491				
FLNB	2317	broad.mit.edu	37	3	58094978	58094978	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:58094978C>A	ENST00000295956.4	+	14	2293	c.2128C>A	c.(2128-2130)Ccg>Acg	p.P710T	FLNB_ENST00000429972.2_Missense_Mutation_p.P710T|FLNB_ENST00000419752.2_Missense_Mutation_p.P541T|FLNB_ENST00000358537.3_Missense_Mutation_p.P710T|FLNB_ENST00000490882.1_Missense_Mutation_p.P710T|FLNB_ENST00000493452.1_Missense_Mutation_p.P541T|FLNB_ENST00000357272.4_Missense_Mutation_p.P710T|FLNB_ENST00000348383.5_Missense_Mutation_p.P710T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	710					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTCATACACCCCGGTGAAGGC	0.557																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(2128-2130)Ccg>Acg		filamin B, beta							101.0	82.0	89.0					3																	58094978		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58094978C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2128C>A	3.37:g.58094978C>A	ENSP00000295956:p.Pro710Thr		Somatic				FLNB_ENST00000429972.2_Missense_Mutation_p.P710T|FLNB_ENST00000493452.1_Missense_Mutation_p.P541T|FLNB_ENST00000490882.1_Missense_Mutation_p.P710T|FLNB_ENST00000348383.5_Missense_Mutation_p.P710T|FLNB_ENST00000419752.2_Missense_Mutation_p.P541T|FLNB_ENST00000358537.3_Missense_Mutation_p.P710T|FLNB_ENST00000295956.4_Missense_Mutation_p.P710T	p.P710T			WXS	Illumina GAIIx	Phase_I	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	14	2293	+			710					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.2128C>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406708	0.83230	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.43	5.43	0.79202	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.045751	0.85682	D	0.000000	D	0.95452	0.8523	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.996;1.0;1.0	D	0.96600	0.9444	10	0.87932	D	0	.	19.6036	0.95573	0.0:1.0:0.0:0.0	.	710;710;541;541;710;710	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	T	710;710;710;710;710;710;541;541	ENSP00000295956:P710T;ENSP00000420213:P710T;ENSP00000351339:P710T;ENSP00000415599:P710T;ENSP00000232447:P710T;ENSP00000349819:P710T;ENSP00000418510:P541T;ENSP00000414532:P541T	ENSP00000295956:P710T	P	+	1	0	FLNB	58070018	1.000000	0.71417	0.994000	0.49952	0.497000	0.33675	7.776000	0.85560	2.709000	0.92574	0.655000	0.94253	CCG		0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		4	307	1	0	1	1	1	4	307				
RPS14	6208	broad.mit.edu	37	5	149827277	149827277	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:149827277T>C	ENST00000401695.3	-	2	66	c.20A>G	c.(19-21)aAg>aGg	p.K7R	RPS14_ENST00000312037.5_Missense_Mutation_p.K7R|RPS14_ENST00000407193.1_Missense_Mutation_p.K7R			P62263	RS14_HUMAN	ribosomal protein S14	7					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTTTTCCTTCCCCTTTCG	0.443																																						ENST00000401695.3																			0				central_nervous_system(1)|lung(1)|skin(1)	3						c.(19-21)aAg>aGg		ribosomal protein S14							121.0	108.0	113.0					5																	149827277		2203	4300	6503	SO:0001583	missense	6208				endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity	g.chr5:149827277T>C		CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.20A>G	5.37:g.149827277T>C	ENSP00000385958:p.Lys7Arg		Somatic				RPS14_ENST00000312037.5_Missense_Mutation_p.K7R|RPS14_ENST00000407193.1_Missense_Mutation_p.K7R	p.K7R			WXS	Illumina GAIIx	Phase_I	P62263	RS14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	66	-		all_hematologic(541;0.224)	7					B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	ENST00000401695.3	37	c.20A>G	CCDS4307.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141199	0.56936	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	L	0.43701	1.375	0.80722	D	1	B	0.18863	0.031	B	0.24394	0.053	T	0.50398	-0.8833	9	0.20519	T	0.43	.	15.1102	0.72349	0.0:0.0:0.0:1.0	.	7	P62263	RS14_HUMAN	R	7	.	ENSP00000311028:K7R	K	-	2	0	RPS14	149807470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.649000	0.83500	2.023000	0.59567	0.455000	0.32223	AAG		0.443	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252373.1	NM_001025071		5	347	0	0	0	1	0	5	347				
PLD2	5338	broad.mit.edu	37	17	4711663	4711663	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4711663G>A	ENST00000263088.6	+	4	466	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	PLD2_ENST00000572940.1_Missense_Mutation_p.R112Q|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	112	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GAGCTGCATCGGGACCTCCTG	0.567																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(334-336)cGg>cAg		phospholipase D2	Choline(DB00122)						182.0	180.0	181.0					17																	4711663		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4711663G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.335G>A	17.37:g.4711663G>A	ENSP00000263088:p.Arg112Gln		Somatic				PLD2_ENST00000572940.1_Missense_Mutation_p.R112Q	p.R112Q	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			4	466	+			112			PX.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.335G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229743	0.95173	.	.	ENSG00000129219	ENST00000263088	T	0.40476	1.03	5.37	5.37	0.77165	Phox homologous domain (5);	0.063649	0.64402	D	0.000004	T	0.34308	0.0893	L	0.48642	1.525	0.53688	D	0.999974	B;P	0.38455	0.441;0.632	B;B	0.31016	0.066;0.123	T	0.12116	-1.0560	10	0.23302	T	0.38	-25.3976	16.586	0.84727	0.0:0.0:1.0:0.0	.	112;112	O14939-2;O14939	.;PLD2_HUMAN	Q	112	ENSP00000263088:R112Q	ENSP00000263088:R112Q	R	+	2	0	PLD2	4658627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.268000	0.72552	2.497000	0.84241	0.561000	0.74099	CGG		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		7	976	0	0	0	1	0	7	976				
MINK1	50488	broad.mit.edu	37	17	4796858	4796858	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4796858C>A	ENST00000355280.6	+	21	2726	c.2530C>A	c.(2530-2532)Cca>Aca	p.P844T	MINK1_ENST00000347992.7_Missense_Mutation_p.P815T|MINK1_ENST00000453408.3_Missense_Mutation_p.P824T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CGAAGGCGGGCCAGCAGAGGG	0.682																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2530-2532)Cca>Aca		misshapen-like kinase 1							40.0	52.0	48.0					17																	4796858		1975	4143	6118	SO:0001583	missense	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4796858C>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2530C>A	17.37:g.4796858C>A	ENSP00000347427:p.Pro844Thr		Somatic				MINK1_ENST00000347992.7_Missense_Mutation_p.P815T|MINK1_ENST00000453408.3_Missense_Mutation_p.P824T	p.P844T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	WXS	Illumina GAIIx	Phase_I	Q8N4C8	MINK1_HUMAN			21	2726	+			844						Missense_Mutation	SNP	ENST00000355280.6	37	c.2530C>A	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	C	7.144	0.582346	0.13749	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.71222	-0.55;-0.55;-0.55	4.81	4.81	0.61882	.	0.216882	0.39341	N	0.001398	T	0.45418	0.1341	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25847	-1.0120	10	0.27082	T	0.32	.	11.1368	0.48378	0.0:0.8135:0.1865:0.0	.	807;824;844;815	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	T	844;824;815	ENSP00000347427:P844T;ENSP00000406487:P824T;ENSP00000269296:P815T	ENSP00000269296:P815T	P	+	1	0	MINK1	4737634	0.888000	0.30383	0.886000	0.34754	0.958000	0.62258	2.043000	0.41231	2.497000	0.84241	0.561000	0.74099	CCA		0.682	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		4	64	1	0	1.024e-07	1	1.1197e-07	4	64				
CDK5RAP2	55755	broad.mit.edu	37	9	123201985	123201985	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123201985C>G	ENST00000349780.4	-	24	3593	c.3414G>C	c.(3412-3414)caG>caC	p.Q1138H	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q1138H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q1106H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q1097H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1138	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTCACTGCACTGGGAGTGCT	0.443											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(3412-3414)caG>caC		CDK5 regulatory subunit associated protein 2							103.0	97.0	99.0					9																	123201985		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123201985C>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3414G>C	9.37:g.123201985C>G	ENSP00000343818:p.Gln1138His		Somatic	OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1524	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q1097H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q1106H|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q1138H	p.Q1138H	NM_018249.4	NP_060719.4	WXS	Illumina GAIIx	Phase_I	Q96SN8	CK5P2_HUMAN			24	3593	-			1138			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.3414G>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559997	0.65538	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.26223	3.73;3.64;3.76;3.66;2.06;1.75	5.67	3.84	0.44239	.	0.466412	0.19777	N	0.106318	T	0.39332	0.1074	M	0.63428	1.95	0.33430	D	0.58104	D;D;D;D;D;D	0.71674	0.993;0.998;0.996;0.995;0.993;0.998	P;P;P;P;P;P	0.61592	0.8;0.891;0.855;0.849;0.72;0.891	T	0.53634	-0.8411	10	0.72032	D	0.01	.	5.4845	0.16741	0.1409:0.6343:0.0:0.2248	.	148;907;1106;1138;1138;532	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	H	1106;1097;1138;1138;532;148;910	ENSP00000354065:Q1106H;ENSP00000352258:Q1097H;ENSP00000343818:Q1138H;ENSP00000353317:Q1138H;ENSP00000400395:Q532H;ENSP00000409941:Q148H	ENSP00000341695:Q910H	Q	-	3	2	CDK5RAP2	122241806	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.144000	0.16135	0.753000	0.32945	0.563000	0.77884	CAG		0.443	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		4	297	0	0	0	1	0	4	297				
COL1A1	1277	broad.mit.edu	37	17	48269342	48269342	+	Splice_Site	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48269342C>A	ENST00000225964.5	-	30	2145	c.2027G>T	c.(2026-2028)aGa>aTa	p.R676I		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	676	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCTACTTACTCTTGCTCCAGA	0.612			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.e30+1		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						55.0	50.0	51.0					17																	48269342		2203	4300	6503	SO:0001630	splice_region_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48269342C>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2028+1G>T	17.37:g.48269342C>A			Somatic					p.R676_splice	NM_000088.3	NP_000079.2	WXS	Illumina GAIIx	Phase_I	P02452	CO1A1_HUMAN			30	2145	-			676			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Splice_Site	SNP	ENST00000225964.5	37	c.2028_splice	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431795	0.96150	.	.	ENSG00000108821	ENST00000225964	D	0.96104	-3.91	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.97318	0.9123	M	0.69523	2.12	0.80722	D	1	D	0.64830	0.994	D	0.79784	0.993	D	0.97760	1.0220	10	0.66056	D	0.02	.	17.0333	0.86467	0.0:1.0:0.0:0.0	.	676	P02452	CO1A1_HUMAN	I	676	ENSP00000225964:R676I	ENSP00000225964:R676I	R	-	2	0	COL1A1	45624341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.553000	0.45837	2.547000	0.85894	0.655000	0.94253	AGA		0.612	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		Missense_Mutation	3	71	1	0	6.4e-05	1	6.83212e-05	3	71				
RANBP2	5903	broad.mit.edu	37	2	109382975	109382975	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:109382975G>A	ENST00000283195.6	+	20	6106	c.5980G>A	c.(5980-5982)Ggt>Agt	p.G1994S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1994					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G1994R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAACACTTCCGGTGACTTTGA	0.393																																						ENST00000283195.6																		RANBP2/ALK(34)	2	Substitution - Missense(2)	p.G1994R(2)	kidney(2)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5980-5982)Ggt>Agt		RAN binding protein 2							65.0	75.0	72.0					2																	109382975		1979	3965	5944	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382975G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5980G>A	2.37:g.109382975G>A	ENSP00000283195:p.Gly1994Ser		Somatic					p.G1994S	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			20	6106	+			1994					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.5980G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	0.600	-0.829411	0.02734	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.26067	1.76	5.64	-0.268	0.12934	.	.	.	.	.	T	0.11067	0.0270	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32613	-0.9900	9	0.21540	T	0.41	-7.7395	2.2814	0.04115	0.1868:0.0961:0.3805:0.3366	.	1994	P49792	RBP2_HUMAN	S	1018;1994	ENSP00000283195:G1994S	ENSP00000283195:G1994S	G	+	1	0	RANBP2	108749407	0.675000	0.27558	0.049000	0.19019	0.197000	0.23852	1.246000	0.32803	0.021000	0.15133	-0.319000	0.08680	GGT		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	378	0	0	0	1	0	4	378				
BSDC1	55108	broad.mit.edu	37	1	32844350	32844350	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32844350G>T	ENST00000455895.2	-	6	536	c.503C>A	c.(502-504)tCc>tAc	p.S168Y	BSDC1_ENST00000341071.7_Missense_Mutation_p.S185Y|BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000449308.1_Missense_Mutation_p.S168Y|BSDC1_ENST00000446293.2_Missense_Mutation_p.S185Y|BSDC1_ENST00000419121.2_Missense_Mutation_p.S112Y|BSDC1_ENST00000526031.1_Missense_Mutation_p.S73Y	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	168	BSD. {ECO:0000255|PROSITE- ProRule:PRU00036}.									breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCCCGGATGGAGGGGCTGCC	0.622																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(553-555)tCc>tAc		BSD domain containing 1							22.0	23.0	22.0					1																	32844350		2194	4270	6464	SO:0001583	missense	55108						protein binding	g.chr1:32844350G>T	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.503C>A	1.37:g.32844350G>T	ENSP00000412173:p.Ser168Tyr		Somatic				BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000526031.1_Missense_Mutation_p.S73Y|BSDC1_ENST00000446293.2_Missense_Mutation_p.S185Y|BSDC1_ENST00000455895.2_Missense_Mutation_p.S168Y|BSDC1_ENST00000419121.2_Missense_Mutation_p.S112Y|BSDC1_ENST00000449308.1_Missense_Mutation_p.S168Y	p.S185Y			WXS	Illumina GAIIx	Phase_I	Q9NW68	BSDC1_HUMAN			6	565	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	168			BSD.		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.554C>A	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856445	0.91355	.	.	ENSG00000160058	ENST00000455895;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308;ENST00000527163;ENST00000530485	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.75	5.75	0.90469	BSD (3);	0.046481	0.85682	D	0.000000	T	0.69441	0.3111	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.997;0.997;0.998;0.995	D;D;D;D;D	0.72075	0.969;0.935;0.976;0.964;0.974	T	0.69487	-0.5132	10	0.62326	D	0.03	-18.6965	19.319	0.94229	0.0:0.0:1.0:0.0	.	73;112;185;185;168	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	Y	168;185;73;112;185;168;102;129	ENSP00000412173:S168Y;ENSP00000344816:S185Y;ENSP00000432382:S73Y;ENSP00000405752:S112Y;ENSP00000397759:S185Y;ENSP00000391762:S168Y;ENSP00000432524:S102Y;ENSP00000435888:S129Y	ENSP00000344816:S185Y	S	-	2	0	BSDC1	32616937	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.537000	0.98070	2.894000	0.99253	0.655000	0.94253	TCC		0.622	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		10	11	1	0	2.17888e-05	1	2.34741e-05	10	11				
GBF1	8729	broad.mit.edu	37	10	104125323	104125323	+	Missense_Mutation	SNP	G	G	A	rs372320027		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:104125323G>A	ENST00000369983.3	+	18	2533	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	758	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R758H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTGAGTGACCGCAAAAACATT	0.507																																						ENST00000369983.3																			1	Substitution - Missense(1)	p.R758H(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2272-2274)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	122.0	125.0		2276,2273,2273	5.8	1.0	10		125	0,8600		0,0,4300	no	missense,missense,missense	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	759/1857,758/1856,758/1860	104125323	1,13005	2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104125323G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2273G>A	10.37:g.104125323G>A	ENSP00000359000:p.Arg758His		Somatic					p.R758H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	WXS	Illumina GAIIx	Phase_I	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	18	2533	+		Colorectal(252;0.0236)	758			SEC7.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.2273G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.656776	0.96724	2.27E-4	0.0	ENSG00000107862	ENST00000369983	T	0.77358	-1.09	5.79	5.79	0.91817	SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.984	D	0.84621	0.0684	10	0.40728	T	0.16	-11.3148	20.0313	0.97540	0.0:0.0:1.0:0.0	.	758;758;758	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	758	ENSP00000359000:R758H	ENSP00000359000:R758H	R	+	2	0	GBF1	104115313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.525000	0.98039	2.746000	0.94184	0.655000	0.94253	CGC		0.507	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			6	459	0	0	0	1	0	6	459				
GPR110	266977	broad.mit.edu	37	6	46977033	46977033	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:46977033A>T	ENST00000371253.2	-	11	2353	c.2138T>A	c.(2137-2139)aTa>aAa	p.I713K	GPR110_ENST00000283297.5_Missense_Mutation_p.I516K|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	713					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I713K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AATGACAGATATAATGAGAGG	0.478																																						ENST00000371253.2																			1	Substitution - Missense(1)	p.I713K(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2137-2139)aTa>aAa		G protein-coupled receptor 110							88.0	81.0	84.0					6																	46977033		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977033A>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2138T>A	6.37:g.46977033A>T	ENSP00000360299:p.Ile713Lys		Somatic				GPR110_ENST00000283297.5_Missense_Mutation_p.I516K|GPR110_ENST00000449332.2_5'UTR	p.I713K	NM_153840.2	NP_722582.2	WXS	Illumina GAIIx	Phase_I	Q5T601	GP110_HUMAN			11	2353	-			713					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.2138T>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193210	0.78902	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.48836	0.8;0.8	5.9	5.9	0.94986	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000002	T	0.72137	0.3423	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80320	-0.1432	10	0.87932	D	0	-26.8319	16.3322	0.83039	1.0:0.0:0.0:0.0	.	713	Q5T601	GP110_HUMAN	K	713;516	ENSP00000360299:I713K;ENSP00000283297:I516K	ENSP00000283297:I516K	I	-	2	0	GPR110	47084992	1.000000	0.71417	0.942000	0.38095	0.727000	0.41649	9.332000	0.96446	2.251000	0.74343	0.528000	0.53228	ATA		0.478	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		107	108	0	0	0	1	0	107	108				
KRT79	338785	broad.mit.edu	37	12	53227578	53227578	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53227578A>G	ENST00000330553.5	-	1	501	c.467T>C	c.(466-468)tTc>tCc	p.F156S		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	156	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGTCGATGAAGGAGGCGAA	0.607																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(466-468)tTc>tCc		keratin 79							123.0	121.0	122.0					12																	53227578		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227578A>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.467T>C	12.37:g.53227578A>G	ENSP00000328358:p.Phe156Ser		Somatic					p.F156S	NM_175834.2	NP_787028.1	WXS	Illumina GAIIx	Phase_I	Q5XKE5	K2C79_HUMAN			1	501	-			156			Coil 1A.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.467T>C	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.668826	0.67814	.	.	ENSG00000185640	ENST00000330553	D	0.91237	-2.81	4.26	4.26	0.50523	Filament (1);	0.000000	0.50627	D	0.000107	D	0.95981	0.8691	M	0.92833	3.35	0.51012	D	0.999904	D	0.76494	0.999	D	0.74348	0.983	D	0.96785	0.9578	10	0.87932	D	0	.	13.5492	0.61721	1.0:0.0:0.0:0.0	.	156	Q5XKE5	K2C79_HUMAN	S	156	ENSP00000328358:F156S	ENSP00000328358:F156S	F	-	2	0	KRT79	51513845	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	9.078000	0.94023	2.134000	0.65973	0.482000	0.46254	TTC		0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		6	819	0	0	0	1	0	6	819				
CFAP61	26074	broad.mit.edu	37	20	20051557	20051557	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:20051557C>A	ENST00000245957.5	+	3	279	c.203C>A	c.(202-204)gCc>gAc	p.A68D	C20orf26_ENST00000451767.2_Missense_Mutation_p.A68D|C20orf26_ENST00000377306.1_Missense_Mutation_p.A68D|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		68										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGGCCCAGGCCACCTTCCTG	0.483																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(202-204)gCc>gAc		chromosome 20 open reading frame 26							103.0	85.0	91.0					20																	20051557		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20051557C>A																												ENST00000245957.5:c.203C>A	20.37:g.20051557C>A	ENSP00000245957:p.Ala68Asp		Somatic				C20orf26_ENST00000451767.2_Missense_Mutation_p.A68D|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.A68D|C20orf26_ENST00000377309.2_5'UTR	p.A68D	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	3	279	+			68					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.203C>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212216	0.58452	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.72	4.77	0.60923	.	0.121930	0.56097	D	0.000035	T	0.61261	0.2333	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.992;0.999;0.999;0.977	P;D;D;P	0.78314	0.868;0.987;0.991;0.73	T	0.64537	-0.6384	10	0.66056	D	0.02	.	12.7664	0.57394	0.0:0.8355:0.1645:0.0	.	68;68;22;68	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	D	22;68;68;68;68;68;68;68	ENSP00000345553:A22D;ENSP00000245957:A68D;ENSP00000366521:A68D;ENSP00000366518:A68D;ENSP00000417086:A68D;ENSP00000414537:A68D	ENSP00000245957:A68D	A	+	2	0	C20orf26	19999557	1.000000	0.71417	0.996000	0.52242	0.369000	0.29798	2.386000	0.44380	1.416000	0.47057	-0.176000	0.13171	GCC		0.483	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			6	168	1	0	1	1	1	6	168				
HENMT1	113802	broad.mit.edu	37	1	109191553	109191553	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:109191553T>A	ENST00000370032.5	-	8	1237	c.817A>T	c.(817-819)Aat>Tat	p.N273Y	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.N273Y|HENMT1_ENST00000370031.1_Missense_Mutation_p.N304Y	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	273					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						GACACCTCATTAACCAACACA	0.443																																						ENST00000370032.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						c.(817-819)Aat>Tat		HEN1 methyltransferase homolog 1 (Arabidopsis)							64.0	61.0	62.0					1																	109191553		2203	4300	6503	SO:0001583	missense	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109191553T>A		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.817A>T	1.37:g.109191553T>A	ENSP00000359049:p.Asn273Tyr		Somatic				HENMT1_ENST00000402983.1_Missense_Mutation_p.N273Y|HENMT1_ENST00000370031.1_Missense_Mutation_p.N304Y|HENMT1_ENST00000493676.1_5'UTR	p.N273Y	NM_144584.2	NP_653185.2	WXS	Illumina GAIIx	Phase_I	Q5T8I9	HENMT_HUMAN			8	1237	-			273					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	c.817A>T	CCDS787.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372362	0.24857	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.32023	1.86;1.79;1.86;1.47	5.81	2.19	0.27852	.	0.579081	0.18563	N	0.137566	T	0.04318	0.0119	N	0.11560	0.145	0.09310	N	1	B	0.25048	0.117	B	0.17722	0.019	T	0.34725	-0.9817	10	0.42905	T	0.14	-4.9789	3.7032	0.08390	0.1676:0.1959:0.0:0.6365	.	273	Q5T8I9	HENMT_HUMAN	Y	273;304;273;273	ENSP00000385655:N273Y;ENSP00000359048:N304Y;ENSP00000359049:N273Y;ENSP00000403953:N273Y	ENSP00000359048:N304Y	N	-	1	0	HENMT1	108993076	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	1.696000	0.37773	0.121000	0.18284	0.533000	0.62120	AAT		0.443	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		5	232	0	0	0	1	0	5	232				
NYAP1	222950	broad.mit.edu	37	7	100086225	100086225	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100086225C>T	ENST00000300179.2	+	4	1040	c.881C>T	c.(880-882)gCc>gTc	p.A294V	NYAP1_ENST00000423930.1_Missense_Mutation_p.A294V|NYAP1_ENST00000454988.1_Missense_Mutation_p.A237V	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	294	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CAGCCTCACGCCCTTCCGCCC	0.667																																						ENST00000423930.1																			0											c.(880-882)gCc>gTc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							45.0	47.0	46.0					7																	100086225		2202	4294	6496	SO:0001583	missense	222950							g.chr7:100086225C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.881C>T	7.37:g.100086225C>T	ENSP00000300179:p.Ala294Val		Somatic				NYAP1_ENST00000300179.2_Missense_Mutation_p.A294V|NYAP1_ENST00000454988.1_Missense_Mutation_p.A237V	p.A294V			WXS	Illumina GAIIx	Phase_I	Q6ZVC0	CG051_HUMAN			4	1040	+			294			Pro-rich.		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.881C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909012	0.00508	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.29655	1.56;1.56;1.56	4.73	-0.998	0.10212	.	1.069840	0.07323	N	0.877888	T	0.11665	0.0284	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29150	-1.0021	10	0.02654	T	1	-1.1305	5.0923	0.14715	0.0:0.4538:0.1436:0.4026	.	237;294	C9JS30;Q6ZVC0	.;CG051_HUMAN	V	294;294;237	ENSP00000300179:A294V;ENSP00000411861:A294V;ENSP00000394424:A237V	ENSP00000300179:A294V	A	+	2	0	C7orf51	99924161	0.003000	0.15002	0.027000	0.17364	0.049000	0.14656	0.950000	0.29122	-0.576000	0.05974	-0.501000	0.04562	GCC		0.667	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		4	162	0	0	0	1	0	4	162				
WDR24	84219	broad.mit.edu	37	16	739506	739506	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:739506G>A	ENST00000248142.6	-	3	320	c.321C>T	c.(319-321)ggC>ggT	p.G107G	WDR24_ENST00000293883.4_Silent_p.G45G|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	107										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				AGATGCTACGGCCTGCCACGA	0.612																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(133-135)ggC>ggT		WD repeat domain 24							63.0	58.0	60.0					16																	739506		2200	4300	6500	SO:0001819	synonymous_variant	84219							g.chr16:739506G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.321C>T	16.37:g.739506G>A			Somatic				WDR24_ENST00000248142.6_Silent_p.G107G|LA16c-313D11.12_ENST00000566927.1_RNA	p.G45G	NM_032259.2	NP_115635.1	WXS	Illumina GAIIx	Phase_I	Q96S15	WDR24_HUMAN			1	894	-		Hepatocellular(780;0.0218)	107					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37	c.135C>T																																																																																					0.612	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		5	233	0	0	0	1	0	5	233				
HSD11B2	3291	broad.mit.edu	37	16	67470762	67470762	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67470762G>A	ENST00000326152.5	+	5	1206	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	358					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		CTGAAGGCCTGCGGCGCCGCT	0.662																																						ENST00000326152.5																			0				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(1072-1074)ctG>ctA		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)						69.0	75.0	73.0					16																	67470762		2197	4300	6497	SO:0001819	synonymous_variant	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67470762G>A	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.1074G>A	16.37:g.67470762G>A			Somatic					p.L358L	NM_000196.3	NP_000187.3	WXS	Illumina GAIIx	Phase_I	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	5	1206	+		Ovarian(137;0.0563)	358					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	ENST00000326152.5	37	c.1074G>A	CCDS10837.1																																																																																				0.662	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		6	309	0	0	0	1	0	6	309				
PNPLA6	10908	broad.mit.edu	37	19	7624020	7624020	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:7624020A>G	ENST00000221249.6	+	31	3999	c.3568A>G	c.(3568-3570)Aag>Gag	p.K1190E	PNPLA6_ENST00000414982.3_Missense_Mutation_p.K1238E|PNPLA6_ENST00000545201.2_Missense_Mutation_p.K1163E|PNPLA6_ENST00000600737.1_Missense_Mutation_p.K1228E|PNPLA6_ENST00000450331.3_Missense_Mutation_p.K1190E	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1229					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGACTTTGGGAAGTTCGACCA	0.567																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3568-3570)Aag>Gag		patatin-like phospholipase domain containing 6							69.0	53.0	59.0					19																	7624020		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7624020A>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3568A>G	19.37:g.7624020A>G	ENSP00000221249:p.Lys1190Glu		Somatic				PNPLA6_ENST00000545201.2_Missense_Mutation_p.K1163E|PNPLA6_ENST00000600737.1_Missense_Mutation_p.K1228E|PNPLA6_ENST00000450331.3_Missense_Mutation_p.K1190E|PNPLA6_ENST00000414982.3_Missense_Mutation_p.K1238E	p.K1190E	NM_006702.4	NP_006693.3	WXS	Illumina GAIIx	Phase_I	Q8IY17	PLPL6_HUMAN			31	3999	+			1229					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3568A>G	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	a	23.9	4.468932	0.84533	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.97	4.97	0.65823	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.89601	3.045	0.58432	D	0.999999	D;D;D;D	0.71674	0.997;0.998;0.998;0.991	D;D;D;D	0.72075	0.947;0.976;0.976;0.925	D	0.90946	0.4801	10	0.66056	D	0.02	-37.0417	12.6418	0.56714	1.0:0.0:0.0:0.0	.	1229;1163;1228;1190	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	E	1190;1163;1238;1190	ENSP00000221249:K1190E;ENSP00000443323:K1163E;ENSP00000407509:K1238E;ENSP00000394348:K1190E	ENSP00000221249:K1190E	K	+	1	0	PNPLA6	7530020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	1.880000	0.54463	0.459000	0.35465	AAG		0.567	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		4	453	0	0	0	1	0	4	453				
CASC3	22794	broad.mit.edu	37	17	38319853	38319853	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38319853C>T	ENST00000264645.7	+	7	1131	c.905C>T	c.(904-906)gCa>gTa	p.A302V		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	302					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGGAATGCTGCAGGTACCGGC	0.542																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(904-906)gCa>gTa		cancer susceptibility candidate 3							221.0	214.0	217.0					17																	38319853		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319853C>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.905C>T	17.37:g.38319853C>T	ENSP00000264645:p.Ala302Val		Somatic					p.A302V	NM_007359.4	NP_031385.2	WXS	Illumina GAIIx	Phase_I	O15234	CASC3_HUMAN			7	1131	+			302					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.905C>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521766	0.44866	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	4.77	0.60923	.	0.246826	0.39834	N	0.001243	T	0.41627	0.1167	L	0.27053	0.805	0.39475	D	0.967782	P;P	0.43094	0.799;0.799	B;B	0.40066	0.318;0.255	T	0.40117	-0.9580	9	0.39692	T	0.17	-6.4382	14.7024	0.69164	0.0:0.9295:0.0:0.0705	.	302;302	B4DKR6;O15234	.;CASC3_HUMAN	V	302	.	ENSP00000264645:A302V	A	+	2	0	CASC3	35573379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.860000	0.48372	1.438000	0.47492	0.655000	0.94253	GCA		0.542	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		10	1837	0	0	0	1	0	10	1837				
SCN4A	6329	broad.mit.edu	37	17	62028991	62028991	+	Silent	SNP	C	C	T	rs538173069	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:62028991C>T	ENST00000435607.1	-	14	2722	c.2646G>A	c.(2644-2646)ccG>ccA	p.P882P	SCN4A_ENST00000578147.1_Silent_p.P882P	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	882					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCCTCGGGCGGCTCCTTCT	0.642													C|||	4	0.000798722	0.0	0.0	5008	,	,		14012	0.004		0.0	False		,,,				2504	0.0					ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2644-2646)ccG>ccA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						77.0	86.0	83.0					17																	62028991		2002	4141	6143	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62028991C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2646G>A	17.37:g.62028991C>T			Somatic				SCN4A_ENST00000435607.1_Silent_p.P882P	p.P882P			WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			14	2722	-			882					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.2646G>A	CCDS45761.1																																																																																				0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		4	57	0	0	0	1	0	4	57				
RBM5	10181	broad.mit.edu	37	3	50144947	50144947	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50144947G>A	ENST00000347869.3	+	12	1161	c.986G>A	c.(985-987)aGc>aAc	p.S329N	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	329	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACCGCGTCAGCGCTTTCTCT	0.488																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(985-987)aGc>aAc		RNA binding motif protein 5							167.0	146.0	153.0					3																	50144947		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50144947G>A	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.986G>A	3.37:g.50144947G>A	ENSP00000343054:p.Ser329Asn		Somatic				RBM5_ENST00000441812.2_3'UTR	p.S329N	NM_005778.3	NP_005769.1	WXS	Illumina GAIIx	Phase_I	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1161	+			329			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.986G>A	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183758	0.57800	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.15017	2.46	5.9	5.9	0.94986	.	0.037423	0.85682	D	0.000000	T	0.16727	0.0402	L	0.38175	1.15	0.80722	D	1	B;B	0.24618	0.107;0.107	B;B	0.18263	0.021;0.021	T	0.07009	-1.0795	10	0.19590	T	0.45	-16.3191	20.27	0.98469	0.0:0.0:1.0:0.0	.	19;329	Q59HE6;P52756	.;RBM5_HUMAN	N	329;328;19	ENSP00000343054:S329N	ENSP00000343054:S329N	S	+	2	0	RBM5	50119951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.495000	0.73665	2.790000	0.95986	0.650000	0.86243	AGC		0.488	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		5	290	0	0	0	1	0	5	290				
NPY5R	4889	broad.mit.edu	37	4	164271737	164271737	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:164271737G>A	ENST00000515560.1	+	4	1834	c.312G>A	c.(310-312)ctG>ctA	p.L104L	NPY5R_ENST00000338566.3_Silent_p.L104L|NPY5R_ENST00000506953.1_Silent_p.L104L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	104					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTGTCTTGCTGGATCAGTGGA	0.393																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(310-312)ctG>ctA		neuropeptide Y receptor Y5							300.0	292.0	295.0					4																	164271737		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271737G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.312G>A	4.37:g.164271737G>A			Somatic				NPY5R_ENST00000506953.1_Silent_p.L104L|NPY5R_ENST00000338566.3_Silent_p.L104L	p.L104L			WXS	Illumina GAIIx	Phase_I	Q15761	NPY5R_HUMAN			4	1834	+	all_hematologic(180;0.166)	Prostate(90;0.109)	104					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.312G>A	CCDS3804.1																																																																																				0.393	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		6	953	0	0	0	1	0	6	953				
ARHGEF19	128272	broad.mit.edu	37	1	16529026	16529026	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:16529026G>A	ENST00000270747.3	-	13	2087	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	651	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCACCTGCAGCTCAGCCATC	0.652																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1951-1953)Ctg>Ttg		Rho guanine nucleotide exchange factor (GEF) 19							67.0	58.0	61.0					1																	16529026		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16529026G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1951C>T	1.37:g.16529026G>A			Somatic				ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	p.L651L	NM_153213.3	NP_694945.2	WXS	Illumina GAIIx	Phase_I	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	13	2087	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	651			PH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.1951C>T	CCDS170.1																																																																																				0.652	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		6	325	0	0	0	1	0	6	325				
PDLIM4	8572	broad.mit.edu	37	5	131606749	131606749	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:131606749G>C	ENST00000253754.3	+	4	533	c.469G>C	c.(469-471)Gcc>Ccc	p.A157P	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.A157P|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	157							zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCCTGCCAGCCCAGATGAG	0.592																																						ENST00000253754.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10						c.(469-471)Gcc>Ccc		PDZ and LIM domain 4							144.0	144.0	144.0					5																	131606749		2203	4300	6503	SO:0001583	missense	8572						protein binding|zinc ion binding	g.chr5:131606749G>C	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.469G>C	5.37:g.131606749G>C	ENSP00000253754:p.Ala157Pro		Somatic				PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.A157P	p.A157P	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	WXS	Illumina GAIIx	Phase_I	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	533	+			157					B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	c.469G>C	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970637	0.53614	.	.	ENSG00000131435	ENST00000253754;ENST00000379018;ENST00000418373	T;T;T	0.32988	2.69;2.04;1.43	5.7	1.79	0.24919	.	0.842415	0.11047	N	0.605448	T	0.27098	0.0664	L	0.44542	1.39	0.27147	N	0.961504	P;D;P	0.53885	0.797;0.963;0.472	B;P;B	0.46110	0.369;0.504;0.189	T	0.12243	-1.0555	10	0.41790	T	0.15	-4.9865	4.9979	0.14249	0.2446:0.0:0.6118:0.1436	.	157;98;157	P50479-2;C9J542;P50479	.;.;PDLI4_HUMAN	P	157;157;98	ENSP00000253754:A157P;ENSP00000368303:A157P;ENSP00000411753:A98P	ENSP00000253754:A157P	A	+	1	0	PDLIM4	131634648	0.852000	0.29690	0.972000	0.41901	0.984000	0.73092	0.340000	0.19892	0.031000	0.15407	0.455000	0.32223	GCC		0.592	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		5	646	0	0	0	1	0	5	646				
GPR155	151556	broad.mit.edu	37	2	175301104	175301104	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:175301104C>A	ENST00000392552.2	-	16	2591	c.2353G>T	c.(2353-2355)Gac>Tac	p.D785Y	GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.D785Y|GPR155_ENST00000392551.2_Missense_Mutation_p.D785Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	785	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D785Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTCACCAGGTCACAGCCACAG	0.488																																						ENST00000392552.2																			1	Substitution - Missense(1)	p.D785Y(1)	kidney(1)	breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2353-2355)Gac>Tac		G protein-coupled receptor 155							113.0	111.0	112.0					2																	175301104		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175301104C>A	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2353G>T	2.37:g.175301104C>A	ENSP00000376335:p.Asp785Tyr		Somatic				GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000392551.2_Missense_Mutation_p.D785Y|GPR155_ENST00000295500.4_Missense_Mutation_p.D785Y	p.D785Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			16	2591	-			785			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2353G>T	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773865	0.90108	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.16897	2.31;2.31;2.31	6.04	6.04	0.98038	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.100296	0.64402	D	0.000002	T	0.53318	0.1789	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59590	-0.7426	10	0.87932	D	0	-16.9698	20.5792	0.99380	0.0:1.0:0.0:0.0	.	785	Q7Z3F1	GP155_HUMAN	Y	785	ENSP00000376335:D785Y;ENSP00000376334:D785Y;ENSP00000295500:D785Y	ENSP00000295500:D785Y	D	-	1	0	GPR155	175009350	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.058000	0.76676	2.873000	0.98535	0.561000	0.74099	GAC		0.488	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		326	255	1	0	4.93365e-123	1	5.52909e-123	326	255				
LRRC32	2615	broad.mit.edu	37	11	76371805	76371805	+	Missense_Mutation	SNP	G	G	A	rs576424220		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:76371805G>A	ENST00000407242.2	-	3	1074	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R278W|LRRC32_ENST00000260061.5_Missense_Mutation_p.R278W	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	278					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGGGGAGCCGGATGAGGTTG	0.652																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(832-834)Cgg>Tgg		leucine rich repeat containing 32							53.0	51.0	52.0					11																	76371805		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371805G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.832C>T	11.37:g.76371805G>A	ENSP00000384126:p.Arg278Trp		Somatic				AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R278W|LRRC32_ENST00000404995.1_Missense_Mutation_p.R278W	p.R278W	NM_005512.2	NP_005503.1	WXS	Illumina GAIIx	Phase_I	Q14392	LRC32_HUMAN			3	1074	-			278					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.832C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209483	0.58343	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.80214	-1.35;-1.35;-1.35	4.42	3.49	0.39957	.	0.553031	0.19168	N	0.121012	T	0.81716	0.4881	M	0.67517	2.055	0.40347	D	0.979097	D	0.76494	0.999	P	0.47528	0.549	D	0.84164	0.0430	10	0.72032	D	0.01	.	13.7074	0.62648	0.0:0.0:0.8447:0.1553	.	278	Q14392	LRC32_HUMAN	W	278	ENSP00000260061:R278W;ENSP00000384126:R278W;ENSP00000385766:R278W	ENSP00000260061:R278W	R	-	1	2	LRRC32	76049453	1.000000	0.71417	0.995000	0.50966	0.744000	0.42396	4.531000	0.60602	1.055000	0.40461	0.455000	0.32223	CGG		0.652	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		4	272	0	0	0	1	0	4	272				
GOLGA3	2802	broad.mit.edu	37	12	133384990	133384990	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:133384990T>G	ENST00000450791.2	-	4	848	c.665A>C	c.(664-666)aAg>aCg	p.K222T	GOLGA3_ENST00000204726.3_Missense_Mutation_p.K222T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K222T|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K222T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.K222T			Q08378	GOGA3_HUMAN	golgin A3	222	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K222T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGCCCACCTTAGGCCCCCG	0.502																																						ENST00000204726.3																			2	Substitution - Missense(2)	p.K222T(2)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(664-666)aAg>aCg		golgin A3							143.0	166.0	158.0					12																	133384990		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384990T>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.665A>C	12.37:g.133384990T>G	ENSP00000410378:p.Lys222Thr		Somatic				GOLGA3_ENST00000545875.1_Missense_Mutation_p.K222T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.K222T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K222T|GOLGA3_ENST00000450791.2_Missense_Mutation_p.K222T	p.K222T	NM_005895.3	NP_005886.2	WXS	Illumina GAIIx	Phase_I	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1223	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	222			Golgi-targeting domain.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.665A>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848120	0.91277	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.34	5.34	0.76211	.	0.137181	0.64402	D	0.000003	T	0.46328	0.1387	M	0.66939	2.045	0.80722	D	1	D;P;D	0.67145	0.996;0.933;0.965	P;P;P	0.59948	0.866;0.599;0.744	T	0.47129	-0.9141	10	0.66056	D	0.02	.	15.6173	0.76778	0.0:0.0:0.0:1.0	.	222;222;222	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	222	ENSP00000204726:K222T;ENSP00000410378:K222T;ENSP00000409303:K222T;ENSP00000442143:K222T;ENSP00000442603:K222T	ENSP00000204726:K222T	K	-	2	0	GOLGA3	131895063	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.913000	0.87471	2.153000	0.67306	0.477000	0.44152	AAG		0.502	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		46	64	0	0	0	1	0	46	64				
EIF3F	8665	broad.mit.edu	37	11	8016841	8016841	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:8016841T>C	ENST00000533626.1	+	9	1549	c.923T>C	c.(922-924)cTg>cCg	p.L308P	EIF3F_ENST00000537635.1_Missense_Mutation_p.L323P|EIF3F_ENST00000449102.2_Missense_Mutation_p.L159P|EIF3F_ENST00000309828.4_Missense_Mutation_p.L308P					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCGCTTCCTGATGAGCCTG	0.473																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(922-924)cTg>cCg		eukaryotic translation initiation factor 3, subunit F							270.0	267.0	268.0					11																	8016841		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8016841T>C	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.923T>C	11.37:g.8016841T>C	ENSP00000431800:p.Leu308Pro		Somatic				EIF3F_ENST00000537635.1_Missense_Mutation_p.L323P|EIF3F_ENST00000449102.2_Missense_Mutation_p.L159P|EIF3F_ENST00000309828.4_Missense_Mutation_p.L308P	p.L308P			WXS	Illumina GAIIx	Phase_I	O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	9	1549	+			308						Missense_Mutation	SNP	ENST00000533626.1	37	c.923T>C	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997406	0.74818	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102;ENST00000531572	T;T;T;T	0.62788	0.64;0.63;0.64;-0.0	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85104	0.0959	10	0.87932	D	0	-5.1196	12.1215	0.53893	0.0:0.0:0.0:1.0	.	308	O00303	EIF3F_HUMAN	P	308;323;308;258;159;49	ENSP00000431800:L308P;ENSP00000442283:L323P;ENSP00000310040:L308P;ENSP00000396929:L159P	ENSP00000310040:L308P	L	+	2	0	EIF3F	7973417	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.826000	0.86716	1.913000	0.55393	0.454000	0.30748	CTG		0.473	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		14	1360	0	0	0	1	0	14	1360				
C10orf2	56652	broad.mit.edu	37	10	102750651	102750651	+	Missense_Mutation	SNP	G	G	A	rs568256888		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102750651G>A	ENST00000311916.2	+	4	1803	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_Missense_Mutation_p.G540R	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	540	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.G540W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTACATCATCGGGGTCTTTCG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		25037	0.0		0.001	False		,,,				2504	0.0					ENST00000370228.1																			1	Substitution - Missense(1)	p.G540W(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1618-1620)Ggg>Agg		chromosome 10 open reading frame 2							194.0	192.0	192.0					10																	102750651		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102750651G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1618G>A	10.37:g.102750651G>A	ENSP00000309595:p.Gly540Arg		Somatic				C10orf2_ENST00000311916.2_Missense_Mutation_p.G540R|C10orf2_ENST00000473656.1_3'UTR	p.G540R	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	WXS	Illumina GAIIx	Phase_I	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	1803	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	540			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.1618G>A	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058854	0.93846	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.93859	-3.3;-3.3	5.94	5.94	0.96194	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94742	0.8303	L	0.45051	1.395	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.78314	0.991;0.79	D	0.91888	0.5521	10	0.15952	T	0.53	-11.8017	17.8531	0.88754	0.0:0.0:1.0:0.0	.	540;540	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	R	540	ENSP00000309595:G540R;ENSP00000359248:G540R	ENSP00000309595:G540R	G	+	1	0	C10orf2	102740641	1.000000	0.71417	0.970000	0.41538	0.706000	0.40770	9.800000	0.99124	2.822000	0.97130	0.557000	0.71058	GGG		0.473	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		12	2159	0	0	0	1	0	12	2159				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C			Somatic				ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	p.L344L	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		11	433	0	0	0	1	0	11	433				
FLNA	2316	broad.mit.edu	37	X	153599315	153599315	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:153599315C>T	ENST00000369850.3	-	2	535	c.299G>A	c.(298-300)cGc>cAc	p.R100H	FLNA_ENST00000360319.4_Missense_Mutation_p.R100H|FLNA_ENST00000344736.4_Missense_Mutation_p.R100H|FLNA_ENST00000422373.1_Missense_Mutation_p.R100H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	100	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CTGCATTTGGCGGAAAGTGGG	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.(298-300)cGc>cAc		filamin A, alpha							49.0	47.0	48.0					X																	153599315		2202	4299	6501	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153599315C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.299G>A	X.37:g.153599315C>T	ENSP00000358866:p.Arg100His		Somatic				FLNA_ENST00000344736.4_Missense_Mutation_p.R100H|FLNA_ENST00000360319.4_Missense_Mutation_p.R100H|FLNA_ENST00000369850.3_Missense_Mutation_p.R100H	p.R100H	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			2	547	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		100			Actin-binding.|CH 1.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.299G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775978	0.70107	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.13	5.13	0.70059	Calponin homology domain (5);	0.072217	0.50627	D	0.000105	D	0.97885	0.9305	H	0.96916	3.905	0.80722	D	1	B;D	0.56746	0.408;0.977	B;P	0.46419	0.077;0.516	D	0.99342	1.0912	10	0.87932	D	0	.	17.3547	0.87332	0.0:1.0:0.0:0.0	.	100;100	P21333-2;P21333	.;FLNA_HUMAN	H	100;73;100;100;100	ENSP00000353467:R100H;ENSP00000416926:R100H;ENSP00000358866:R100H;ENSP00000358863:R100H	ENSP00000358863:R100H	R	-	2	0	FLNA	153252509	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.630000	0.83225	2.131000	0.65755	0.525000	0.51046	CGC		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			2	1	0	0	0	1	0	2	1				
ZNF660	285349	broad.mit.edu	37	3	44635921	44635921	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:44635921A>G	ENST00000322734.2	+	3	569	c.236A>G	c.(235-237)aAg>aGg	p.K79R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAACCCTATAAGTGTAAGGAG	0.453																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(235-237)aAg>aGg		zinc finger protein 660							79.0	82.0	81.0					3																	44635921		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635921A>G	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.236A>G	3.37:g.44635921A>G	ENSP00000324605:p.Lys79Arg		Somatic				RP11-944L7.4_ENST00000457331.1_RNA	p.K79R	NM_173658.2	NP_775929.2	WXS	Illumina GAIIx	Phase_I	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	569	+			79					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.236A>G	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.175151	0.57692	.	.	ENSG00000144792	ENST00000322734	T	0.35973	1.28	4.35	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30823	0.0777	L	0.51914	1.62	0.80722	D	1	B	0.27013	0.166	B	0.29267	0.1	T	0.05131	-1.0904	8	.	.	.	.	9.5176	0.39115	0.6569:0.3431:0.0:0.0	.	79	Q6AZW8	ZN660_HUMAN	R	79	ENSP00000324605:K79R	.	K	+	2	0	ZNF660	44610925	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.012000	0.13287	0.781000	0.33589	0.533000	0.62120	AAG		0.453	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		4	127	0	0	0	1	0	4	127				
YARS2	51067	broad.mit.edu	37	12	32900186	32900186	+	Silent	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:32900186A>T	ENST00000324868.8	-	5	1413	c.1386T>A	c.(1384-1386)ctT>ctA	p.L462L	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	462					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTCCTATTTTAAGTAAGGAAA	0.338																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1384-1386)ctT>ctA		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						78.0	76.0	76.0					12																	32900186		2202	4300	6502	SO:0001819	synonymous_variant	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32900186A>T	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1386T>A	12.37:g.32900186A>T			Somatic				YARS2_ENST00000551673.1_5'UTR	p.L462L	NM_001040436.2	NP_001035526.1	WXS	Illumina GAIIx	Phase_I	Q9Y2Z4	SYYM_HUMAN			5	1413	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		462					D3DUW8|Q9H817	Silent	SNP	ENST00000324868.8	37	c.1386T>A	CCDS31770.1																																																																																				0.338	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		3	26	0	0	0	1	0	3	26				
LMO7	4008	broad.mit.edu	37	13	76335071	76335071	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:76335071A>G	ENST00000341547.4	+	5	1630	c.370A>G	c.(370-372)Aat>Gat	p.N124D	LMO7_ENST00000377534.3_Missense_Mutation_p.N124D|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000357063.3_Missense_Mutation_p.N124D|LMO7_ENST00000526202.1_Missense_Mutation_p.N33D	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	124	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N124D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCACAGGATAATATAAACGT	0.368																																						ENST00000357063.3																			2	Substitution - Missense(2)	p.N124D(2)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(370-372)Aat>Gat		LIM domain 7							73.0	71.0	72.0					13																	76335071		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76335071A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.370A>G	13.37:g.76335071A>G	ENSP00000342112:p.Asn124Asp		Somatic				LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.N33D|LMO7_ENST00000377534.3_Missense_Mutation_p.N124D|LMO7_ENST00000341547.4_Missense_Mutation_p.N124D	p.N124D			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	5	1630	+		Breast(118;0.0992)	124			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.370A>G	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508281	0.85282	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.74	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	M	0.90309	3.105	0.53005	D	0.999962	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.91042	0.4872	10	0.87932	D	0	-24.5939	15.8971	0.79344	1.0:0.0:0.0:0.0	.	33;124;72	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	D	124;124;124;72;33	ENSP00000342112:N124D;ENSP00000349571:N124D;ENSP00000366757:N124D;ENSP00000366719:N72D;ENSP00000431129:N33D	ENSP00000342112:N124D	N	+	1	0	LMO7	75233072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.150000	0.67090	0.477000	0.44152	AAT		0.368	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		36	80	0	0	0	1	0	36	80				
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:51947198G>A	ENST00000371117.3	-	4	548	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_ENST00000340994.4_Silent_p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	91	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.C91C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478																																						ENST00000371117.3																			2	Substitution - coding silent(2)	p.C91C(2)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(271-273)tgC>tgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							167.0	176.0	173.0					6																	51947198		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947198G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.273C>T	6.37:g.51947198G>A			Somatic				PKHD1_ENST00000340994.4_Silent_p.C91C	p.C91C	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			4	548	-	Lung NSC(77;0.0605)		91			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.273C>T	CCDS4935.1																																																																																				0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	427	0	0	0	1	0	6	427				
PCDHA13	56136	broad.mit.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			4	Substitution - coding silent(4)	p.P391P(4)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1171-1173)ccG>ccA									144.0	139.0	140.0					5																	140263026		2203	4300	6503	SO:0001819	synonymous_variant	56136							g.chr5:140263026G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1173G>A	5.37:g.140263026G>A			Somatic				PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	p.P391P	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1173	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1173G>A	CCDS4240.1																																																																																				0.547	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		8	290	0	0	0	1	0	8	290				
OAT	4942	broad.mit.edu	37	10	126100568	126100568	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:126100568A>G	ENST00000368845.5	-	2	265	c.173T>C	c.(172-174)tTa>tCa	p.L58S	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	58					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	GGCTACAGGTAAAGGATGGTA	0.373																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(172-174)tTa>tCa		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						122.0	117.0	119.0					10																	126100568		2203	4300	6503	SO:0001583	missense	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126100568A>G	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.173T>C	10.37:g.126100568A>G	ENSP00000357838:p.Leu58Ser		Somatic				OAT_ENST00000539214.1_Intron	p.L58S	NM_000274.3	NP_000265.1	WXS	Illumina GAIIx	Phase_I	P04181	OAT_HUMAN			2	265	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	58					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	37	c.173T>C	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.081277	0.76528	.	.	ENSG00000065154	ENST00000368845	D	0.98926	-5.24	3.9	3.9	0.45041	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.64402	D	0.000003	D	0.98473	0.9491	M	0.78916	2.43	0.80722	D	1	D	0.55800	0.973	P	0.53035	0.716	D	0.98877	1.0768	10	0.87932	D	0	-20.3394	13.4591	0.61217	1.0:0.0:0.0:0.0	.	58	P04181	OAT_HUMAN	S	58	ENSP00000357838:L58S	ENSP00000357838:L58S	L	-	2	0	OAT	126090558	0.983000	0.35010	1.000000	0.80357	0.968000	0.65278	8.950000	0.93019	1.720000	0.51447	0.454000	0.30748	TTA		0.373	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		4	434	0	0	0	1	0	4	434				
SSPO	23145	broad.mit.edu	37	7	149493507	149493507	+	RNA	SNP	G	G	A	rs368227415		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149493507G>A	ENST00000378016.2	+	0	6583							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)			ATGGACTTTCGGCCGCATGGT	0.612																																						ENST00000378016.2																			0													SCO-spondin		G		1,4273		0,1,2136	97.0	112.0	107.0		6587	3.5	0.1	7		107	0,8472		0,0,4236	no	coding-notMod3	SSPO	NM_198455.2		0,1,6372	AA,AG,GG		0.0,0.0234,0.0078			149493507	1,12745	2137	4236	6373			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493507G>A	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.149493507G>A			Somatic								WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6583	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	95	0	0	0	1	0	3	95				
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys		Somatic				NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C	p.R84C	NM_005008.3	NP_004999.1	WXS	Illumina GAIIx	Phase_I	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		7	852	0	0	0	1	0	7	852				
USP19	10869	broad.mit.edu	37	3	49155128	49155128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49155128G>A	ENST00000398888.2	-	4	752	c.434C>T	c.(433-435)gCt>gTt	p.A145V	USP19_ENST00000417901.1_Missense_Mutation_p.A145V|USP19_ENST00000398892.3_Missense_Mutation_p.A83V|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000453664.1_Missense_Mutation_p.A145V|USP19_ENST00000434032.2_Missense_Mutation_p.A145V|USP19_ENST00000398898.2_Missense_Mutation_p.A83V	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	145	CS 1. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		tgtgaaagcagcatctacatc	0.512																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(433-435)gCt>gTt		ubiquitin specific peptidase 19							121.0	135.0	131.0					3																	49155128		2149	4261	6410	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49155128G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.434C>T	3.37:g.49155128G>A	ENSP00000381863:p.Ala145Val		Somatic				USP19_ENST00000417901.1_Missense_Mutation_p.A145V|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Missense_Mutation_p.A145V|USP19_ENST00000398892.3_Missense_Mutation_p.A83V|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.A83V|USP19_ENST00000434032.2_Missense_Mutation_p.A145V	p.A145V	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	WXS	Illumina GAIIx	Phase_I	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	4	752	-			145			CS 1.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.434C>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752749	0.31046	.	.	ENSG00000172046	ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.32	5.07	3.2	0.36748	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.454964	0.24820	N	0.035329	T	0.03305	0.0096	N	0.12182	0.205	0.09310	N	1	B;P;B;B;B	0.34977	0.3;0.478;0.243;0.001;0.162	B;B;B;B;B	0.28784	0.057;0.078;0.078;0.004;0.094	T	0.44682	-0.9312	10	0.33940	T	0.23	-3.4314	9.6245	0.39741	0.0797:0.1422:0.7781:0.0	.	208;145;145;145;130	A5PKX8;E9PEG8;E7EN22;O94966;O94966-2	.;.;.;UBP19_HUMAN;.	V	83;145;145;83;145;145;130;130	ENSP00000381872:A83V;ENSP00000395260:A145V;ENSP00000400090:A145V;ENSP00000381867:A83V;ENSP00000381863:A145V;ENSP00000401197:A145V;ENSP00000303503:A130V	ENSP00000303503:A130V	A	-	2	0	USP19	49130132	0.915000	0.31059	0.808000	0.32385	0.400000	0.30750	3.503000	0.53340	1.318000	0.45170	0.650000	0.86243	GCT		0.512	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		6	660	0	0	0	1	0	6	660				
GABRA4	2557	broad.mit.edu	37	4	46930359	46930359	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:46930359A>T	ENST00000264318.3	-	9	2530	c.1548T>A	c.(1546-1548)agT>agA	p.S516R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	516			S -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCTATTTTACTTGTGCCAG	0.428																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1546-1548)agT>agA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						130.0	127.0	128.0					4																	46930359		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930359A>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1548T>A	4.37:g.46930359A>T	ENSP00000264318:p.Ser516Arg		Somatic					p.S516R	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	WXS	Illumina GAIIx	Phase_I	P48169	GBRA4_HUMAN			9	2530	-			516		S -> R (in a breast cancer sample; somatic mutation).			Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1548T>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176275	0.78564	.	.	ENSG00000109158	ENST00000264318	D	0.83506	-1.73	5.82	0.981	0.19756	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	L	0.54323	1.7	0.40924	D	0.984334	D	0.89917	1.0	D	0.97110	1.0	D	0.85483	0.1180	10	0.87932	D	0	.	9.2477	0.37536	0.7269:0.0:0.2731:0.0	.	516	P48169	GBRA4_HUMAN	R	516	ENSP00000264318:S516R	ENSP00000264318:S516R	S	-	3	2	GABRA4	46625116	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.775000	0.38584	0.494000	0.27859	0.528000	0.53228	AGT		0.428	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			6	197	0	0	0	1	0	6	197				
CKAP5	9793	broad.mit.edu	37	11	46776492	46776492	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46776492C>T	ENST00000529230.1	-	36	4861	c.4815G>A	c.(4813-4815)ttG>ttA	p.L1605L	CKAP5_ENST00000415402.1_Silent_p.L1605L|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000312055.5_Intron			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1605					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CGTCCTTCTCCAATTTCTCAT	0.438																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(4813-4815)ttG>ttA		cytoskeleton associated protein 5							294.0	254.0	268.0					11																	46776492		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46776492C>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4815G>A	11.37:g.46776492C>T			Somatic				CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000415402.1_Silent_p.L1605L|CKAP5_ENST00000312055.5_Intron	p.L1605L			WXS	Illumina GAIIx	Phase_I	Q14008	CKAP5_HUMAN			36	4861	-			1605					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.4815G>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	7.959	0.746602	0.15710	.	.	ENSG00000175216	ENST00000527333	.	.	.	5.7	3.72	0.42706	.	.	.	.	.	T	0.62196	0.2408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60606	-0.7230	4	.	.	.	-4.5042	11.189	0.48675	0.0:0.7483:0.1168:0.1349	.	.	.	.	R	134	.	.	G	-	1	0	CKAP5	46733068	1.000000	0.71417	0.992000	0.48379	0.915000	0.54546	2.556000	0.45862	1.409000	0.46915	0.655000	0.94253	GGA		0.438	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		6	775	0	0	0	1	0	6	775				
VAV2	7410	broad.mit.edu	37	9	136649535	136649535	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:136649535T>C	ENST00000371850.3	-	18	1569	c.1538A>G	c.(1537-1539)aAc>aGc	p.N513S	VAV2_ENST00000371851.1_Missense_Mutation_p.N503S|VAV2_ENST00000406606.3_Missense_Mutation_p.N503S	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	513					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N503S(1)|p.N513S(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGGCTTGATGTTTGACCTGGC	0.552																																						ENST00000371851.1																			2	Substitution - Missense(2)	p.N503S(1)|p.N513S(1)	kidney(2)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1507-1509)aAc>aGc		vav 2 guanine nucleotide exchange factor							392.0	322.0	346.0					9																	136649535		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136649535T>C		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1538A>G	9.37:g.136649535T>C	ENSP00000360916:p.Asn513Ser		Somatic				VAV2_ENST00000406606.3_Missense_Mutation_p.N503S|VAV2_ENST00000371850.3_Missense_Mutation_p.N513S	p.N503S			WXS	Illumina GAIIx	Phase_I	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	16	1833	-			513			PH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1508A>G	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713483	0.68730	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	D;D;D	0.88277	-2.36;-2.36;-2.36	3.9	3.9	0.45041	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.91955	0.7452	L	0.53561	1.675	0.80722	D	1	D;D;D	0.76494	0.968;0.999;0.968	P;D;P	0.74674	0.824;0.984;0.735	D	0.91752	0.5413	10	0.51188	T	0.08	.	12.7302	0.57193	0.0:0.0:0.0:1.0	.	503;513;503	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	S	513;503;503;503	ENSP00000360916:N513S;ENSP00000360917:N503S;ENSP00000385362:N503S	ENSP00000317258:N503S	N	-	2	0	VAV2	135639356	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	7.866000	0.87056	1.390000	0.46547	0.379000	0.24179	AAC		0.552	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			43	252	0	0	0	1	0	43	252				
EP400	57634	broad.mit.edu	37	12	132512736	132512736	+	Missense_Mutation	SNP	G	G	A	rs141771146		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:132512736G>A	ENST00000333577.4	+	28	5501	c.5392G>A	c.(5392-5394)Ggg>Agg	p.G1798R	EP400_ENST00000330386.6_Missense_Mutation_p.G1681R|EP400_ENST00000389562.2_Missense_Mutation_p.G1761R|EP400_ENST00000332482.4_Missense_Mutation_p.G1725R|EP400_ENST00000389561.2_Missense_Mutation_p.G1762R			Q96L91	EP400_HUMAN	E1A binding protein p400	1798					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGGAGGCCGGGCCAGCGCA	0.552																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(5392-5394)Ggg>Agg		E1A binding protein p400		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	142.0	128.0	132.0		5284	2.5	0.0	12	dbSNP_134	132	0,8600		0,0,4300	no	missense	EP400	NM_015409.4	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1762/3124	132512736	1,13005	2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132512736G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5392G>A	12.37:g.132512736G>A	ENSP00000333602:p.Gly1798Arg		Somatic				EP400_ENST00000332482.4_Missense_Mutation_p.G1725R|EP400_ENST00000389562.2_Missense_Mutation_p.G1761R|EP400_ENST00000330386.6_Missense_Mutation_p.G1681R|EP400_ENST00000389561.2_Missense_Mutation_p.G1762R	p.G1798R			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	28	5501	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1798					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.5392G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.717526	0.30413	2.27E-4	0.0	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89875	-2.58;-2.57;-2.58;-2.57;-2.57	5.28	2.47	0.30058	.	0.316238	0.38492	N	0.001679	D	0.82829	0.5122	L	0.46819	1.47	0.25358	N	0.98881	B;B;B	0.16166	0.016;0.016;0.016	B;B;B	0.16722	0.016;0.016;0.016	T	0.66256	-0.5969	10	0.21540	T	0.41	.	9.9237	0.41478	0.2225:0.0:0.7775:0.0	.	1762;1681;1761	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	R	1798;1762;1761;1725;1681;1762;1681	ENSP00000333602:G1798R;ENSP00000374212:G1762R;ENSP00000374213:G1761R;ENSP00000331737:G1725R;ENSP00000330620:G1681R	ENSP00000330620:G1681R	G	+	1	0	EP400	131078689	0.346000	0.24844	0.005000	0.12908	0.022000	0.10575	1.062000	0.30555	0.230000	0.21059	-0.137000	0.14449	GGG		0.552	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	1156	0	0	0	1	0	7	1156				
CCNJL	79616	broad.mit.edu	37	5	159707565	159707565	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:159707565A>T	ENST00000393977.3	-	3	532	c.247T>A	c.(247-249)Tac>Aac	p.Y83N	CCNJL_ENST00000257536.7_Missense_Mutation_p.Y83N|CCNJL_ENST00000519673.1_Missense_Mutation_p.Y83N|CCNJL_ENST00000505287.2_Missense_Mutation_p.Y128N|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000541762.1_Missense_Mutation_p.Y82N	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	83	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACGGTGTAGAGCTGCTTG	0.632																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(247-249)Tac>Aac		cyclin J-like							98.0	100.0	99.0					5																	159707565		2163	4247	6410	SO:0001583	missense	79616					nucleus		g.chr5:159707565A>T	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.247T>A	5.37:g.159707565A>T	ENSP00000377547:p.Tyr83Asn		Somatic				CCNJL_ENST00000505287.2_Missense_Mutation_p.Y128N|CCNJL_ENST00000257536.7_Missense_Mutation_p.Y83N|CCNJL_ENST00000541762.1_Missense_Mutation_p.Y82N|CCNJL_ENST00000519673.1_Missense_Mutation_p.Y83N|CCNJL_ENST00000377503.2_5'UTR	p.Y83N	NM_024565.5	NP_078841.3	WXS	Illumina GAIIx	Phase_I	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	532	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	83			Cyclin N-terminal.		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.247T>A	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394096	0.42410	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762;ENST00000520748;ENST00000505287	T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85	5.46	4.33	0.51752	Cyclin, N-terminal (1);Cyclin-like (3);	0.141984	0.49305	D	0.000154	T	0.17408	0.0418	L	0.37630	1.12	0.53688	D	0.99997	B;B;D	0.60575	0.146;0.242;0.988	B;B;P	0.62435	0.105;0.243;0.902	T	0.00768	-1.1574	10	0.56958	D	0.05	-10.0515	7.2649	0.26224	0.8002:0.0:0.1998:0.0	.	83;83;83	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	N	83;83;83;82;118;128	ENSP00000377547:Y83N;ENSP00000257536:Y83N;ENSP00000427960:Y83N;ENSP00000446367:Y82N;ENSP00000428836:Y118N;ENSP00000444778:Y128N	ENSP00000257536:Y83N	Y	-	1	0	CCNJL	159640143	1.000000	0.71417	0.995000	0.50966	0.838000	0.47535	2.564000	0.45931	2.074000	0.62210	0.454000	0.30748	TAC		0.632	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		8	883	0	0	0	1	0	8	883				
AKAP9	10142	broad.mit.edu	37	7	91726345	91726345	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:91726345C>T	ENST00000359028.2	+	41	10309	c.10084C>T	c.(10084-10086)Cgc>Tgc	p.R3362C	AKAP9_ENST00000356239.3_Missense_Mutation_p.R3358C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3308C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3362					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACACAGTCGCATAGTAGA	0.443			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(10084-10086)Cgc>Tgc		A kinase (PRKA) anchor protein 9							60.0	63.0	62.0					7																	91726345		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726345C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10084C>T	7.37:g.91726345C>T	ENSP00000351922:p.Arg3362Cys		Somatic				AKAP9_ENST00000358100.2_Missense_Mutation_p.R3308C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3358C	p.R3362C			WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		41	10309	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3362					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.10084C>T		.	.	.	.	.	.	.	.	.	.	C	15.62	2.888252	0.52014	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04917	3.63;3.62;3.7;3.53	5.56	4.69	0.59074	.	0.000000	0.42420	D	0.000712	T	0.25269	0.0614	M	0.80847	2.515	0.58432	D	0.999998	D;B;B;B;B	0.89917	1.0;0.257;0.101;0.162;0.162	D;B;B;B;B	0.65443	0.935;0.046;0.021;0.046;0.046	T	0.02983	-1.1086	10	0.87932	D	0	.	14.7298	0.69372	0.0:0.9303:0.0:0.0697	.	633;3362;3362;3358;3350	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	C	3358;3362;3308;3362;1204	ENSP00000348573:R3358C;ENSP00000351922:R3362C;ENSP00000350813:R3308C;ENSP00000378042:R1204C	ENSP00000348573:R3358C	R	+	1	0	AKAP9	91564281	1.000000	0.71417	0.656000	0.29637	0.801000	0.45260	5.608000	0.67654	1.492000	0.48499	0.655000	0.94253	CGC		0.443	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	292	0	0	0	1	0	7	292				
ZFP69	339559	broad.mit.edu	37	1	40961562	40961562	+	Missense_Mutation	SNP	G	G	A	rs149904505		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:40961562G>A	ENST00000372706.1	+	6	2418	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H	ZFP69_ENST00000372705.3_Missense_Mutation_p.R471H|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAATGCAACCGCTGTGGAAAA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20603	0.0		0.0	False		,,,				2504	0.0					ENST00000372706.1																			0											c.(1411-1413)cGc>cAc		ZFP69 zinc finger protein		G	HIS/ARG	0,4406		0,0,2203	74.0	72.0	73.0		1412	4.5	1.0	1	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF642	NM_198494.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	471/527	40961562	3,13003	2203	4300	6503	SO:0001583	missense	339559							g.chr1:40961562G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1412G>A	1.37:g.40961562G>A	ENSP00000361791:p.Arg471His		Somatic				ZFP69_ENST00000372705.3_Missense_Mutation_p.R471H|RP11-656D10.3_ENST00000450713.1_RNA	p.R471H			WXS	Illumina GAIIx	Phase_I					6	2418	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1412G>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581690	0.46006	0.0	3.49E-4	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.14640	2.49;2.49	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000732	T	0.10981	0.0268	N	0.01493	-0.835	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.19257	-1.0311	10	0.52906	T	0.07	-12.0743	8.7066	0.34358	0.0994:0.0:0.9006:0.0	.	471	Q49AA0	ZN642_HUMAN	H	471	ENSP00000361791:R471H;ENSP00000361790:R471H	ENSP00000361790:R471H	R	+	2	0	ZNF642	40734149	0.004000	0.15560	1.000000	0.80357	0.981000	0.71138	1.866000	0.39489	2.786000	0.95864	0.561000	0.74099	CGC		0.398	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		5	271	0	0	0	1	0	5	271				
CHD1	1105	broad.mit.edu	37	5	98235213	98235213	+	Nonsense_Mutation	SNP	A	A	T	rs376402767		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:98235213A>T	ENST00000284049.3	-	7	1205	c.1056T>A	c.(1054-1056)taT>taA	p.Y352*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	352	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTTTTCTTATAATTATCCA	0.303																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1054-1056)taT>taA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						85.0	94.0	91.0					5																	98235213		2203	4300	6503	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98235213A>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1056T>A	5.37:g.98235213A>T	ENSP00000284049:p.Tyr352*		Somatic					p.Y352*	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	7	1205	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	352			Chromo 1.		Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.1056T>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	A	38	7.005440	0.97998	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.74	2.13	0.27403	.	0.000000	0.31233	U	0.008011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3707	0.21479	0.4317:0.0:0.5683:0.0	.	.	.	.	X	352	.	ENSP00000284049:Y352X	Y	-	3	2	CHD1	98263113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.724000	0.25954	0.465000	0.27167	0.533000	0.62120	TAT		0.303	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		3	31	0	0	0	1	0	3	31				
ITPR1	3708	broad.mit.edu	37	3	4735249	4735249	+	Missense_Mutation	SNP	C	C	T	rs61757109		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:4735249C>T	ENST00000443694.2	+	30	4060	c.4060C>T	c.(4060-4062)Cgg>Tgg	p.R1354W	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1369W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1354W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1360W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1345W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1360W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1369					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R1345W(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCAGATGATGCGGTCAGAACG	0.517																																						ENST00000354582.6																			1	Substitution - Missense(1)	p.R1345W(1)	liver(1)	NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4105-4107)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 1							163.0	163.0	163.0					3																	4735249		2076	4229	6305	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4735249C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4060C>T	3.37:g.4735249C>T	ENSP00000401671:p.Arg1354Trp		Somatic				ITPR1_ENST00000443694.2_Missense_Mutation_p.R1354W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1360W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1354W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1360W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1345W	p.R1369W			WXS	Illumina GAIIx	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	33	4455	+			1369					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.4105C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762115	0.69763	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91740	-2.89;-2.9;-2.9;-2.9;-2.9;-2.89	5.18	1.83	0.25207	.	0.055041	0.64402	D	0.000001	D	0.95043	0.8395	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.65684	0.937;0.913	D	0.94311	0.7545	10	0.72032	D	0.01	.	13.9159	0.63897	0.4772:0.5228:0.0:0.0	.	1369;1360	Q14643;G5E9P1	ITPR1_HUMAN;.	W	1369;1354;1369;1360;1360;1345;1354	ENSP00000306253:R1354W;ENSP00000346595:R1369W;ENSP00000405934:R1360W;ENSP00000349597:R1360W;ENSP00000397885:R1345W;ENSP00000401671:R1354W	ENSP00000306253:R1354W	R	+	1	2	ITPR1	4710249	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.000000	0.29770	0.089000	0.17243	0.591000	0.81541	CGG		0.517	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		9	1054	0	0	0	1	0	9	1054				
GOLGB1	2804	broad.mit.edu	37	3	121437246	121437246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:121437246G>A	ENST00000340645.5	-	8	984	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.Q292*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	287					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGTTTCTCTGCTCAGCAGCA	0.473																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(874-876)Cag>Tag		golgin B1							102.0	99.0	100.0					3																	121437246		2203	4300	6503	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121437246G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.859C>T	3.37:g.121437246G>A	ENSP00000341848:p.Gln287*		Somatic				GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q287*	p.Q292*	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	8	984	-			287					B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.874C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391673	0.83011	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.	.	.	5.06	3.26	0.37387	.	0.222268	0.31784	N	0.007061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	6.4956	0.22140	0.0912:0.0:0.7301:0.1787	.	.	.	.	X	287;292;251;99	.	ENSP00000341848:Q287X	Q	-	1	0	GOLGB1	122919936	0.986000	0.35501	0.982000	0.44146	0.422000	0.31414	1.652000	0.37313	0.818000	0.34468	-0.136000	0.14681	CAG		0.473	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		5	275	0	0	0	1	0	5	275				
SIK2	23235	broad.mit.edu	37	11	111590517	111590517	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:111590517G>A	ENST00000304987.3	+	10	1458	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	429					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTGTCTGCTTGACCCTGTGCC	0.532																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1285-1287)Gac>Aac		salt-inducible kinase 2							55.0	37.0	43.0					11																	111590517		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111590517G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1285G>A	11.37:g.111590517G>A	ENSP00000305976:p.Asp429Asn		Somatic				SIK2_ENST00000533868.1_3'UTR	p.D429N	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			10	1458	+			429					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1285G>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079210	0.94050	.	.	ENSG00000170145	ENST00000304987	T	0.75589	-0.95	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.83622	0.5294	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76822	-0.2817	10	0.13470	T	0.59	.	20.0324	0.97544	0.0:0.0:1.0:0.0	.	429	Q9H0K1	SIK2_HUMAN	N	429	ENSP00000305976:D429N	ENSP00000305976:D429N	D	+	1	0	SIK2	111095727	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.357000	0.97099	2.832000	0.97577	0.655000	0.94253	GAC		0.532	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		6	424	0	0	0	1	0	6	424				
ARNT2	9915	broad.mit.edu	37	15	80845046	80845046	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:80845046G>A	ENST00000303329.4	+	10	1185	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000533983.1_Silent_p.R329R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	340	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTTATCCCGGCATAACTCCG	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(985-987)cgG>cgA		aryl-hydrocarbon receptor nuclear translocator 2							169.0	142.0	151.0					15																	80845046		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845046G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1020G>A	15.37:g.80845046G>A			Somatic				ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000303329.4_Silent_p.R340R	p.R329R			WXS	Illumina GAIIx	Phase_I	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1326	+			340			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.987G>A	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	545	0	0	0	1	0	5	545				
ZBTB5	9925	broad.mit.edu	37	9	37442383	37442383	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37442383C>T	ENST00000307750.4	-	2	354	c.166G>A	c.(166-168)Gca>Aca	p.A56T		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	56	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCTCCTTCTGCCACTGAGAAC	0.527																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(166-168)Gca>Aca		zinc finger and BTB domain containing 5							179.0	141.0	154.0					9																	37442383		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37442383C>T	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.166G>A	9.37:g.37442383C>T	ENSP00000307604:p.Ala56Thr		Somatic					p.A56T	NM_014872.2	NP_055687.1	WXS	Illumina GAIIx	Phase_I	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	354	-			56			BTB.			Missense_Mutation	SNP	ENST00000307750.4	37	c.166G>A	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324628	0.81580	.	.	ENSG00000168795	ENST00000307750	T	0.70282	-0.47	5.54	5.54	0.83059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	N	0.20328	0.56	0.80722	D	1	D	0.63046	0.992	D	0.74023	0.982	T	0.67730	-0.5595	10	0.17369	T	0.5	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	56	O15062	ZBTB5_HUMAN	T	56	ENSP00000307604:A56T	ENSP00000307604:A56T	A	-	1	0	ZBTB5	37432383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.515000	0.67049	2.884000	0.98904	0.655000	0.94253	GCA		0.527	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		17	2591	0	0	0	1	0	17	2591				
ATG4A	115201	broad.mit.edu	37	X	107381390	107381390	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:107381390A>G	ENST00000372232.3	+	9	942	c.783A>G	c.(781-783)ccA>ccG	p.P261P	ATG4A_ENST00000372254.3_Silent_p.P237P|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	261					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GAGGAAAACCAAATAACGCGT	0.458																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(781-783)ccA>ccG		autophagy related 4A, cysteine peptidase							184.0	167.0	173.0					X																	107381390		2203	4300	6503	SO:0001819	synonymous_variant	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107381390A>G	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.783A>G	X.37:g.107381390A>G			Somatic				ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Silent_p.P237P	p.P261P	NM_052936.3	NP_443168.2	WXS	Illumina GAIIx	Phase_I	Q8WYN0	ATG4A_HUMAN			9	942	+			261					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Silent	SNP	ENST00000372232.3	37	c.783A>G	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	A	9.545	1.114445	0.20795	.	.	ENSG00000101844	ENST00000394892	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.63757	0.2538	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62895	-0.6757	4	.	.	.	-8.1875	11.7442	0.51811	0.8553:0.1447:0.0:0.0	.	.	.	.	R	234	.	.	Q	+	2	0	ATG4A	107268046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.888000	0.48594	1.796000	0.52611	0.451000	0.29950	CAA		0.458	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		5	605	0	0	0	1	0	5	605				
PLAT	5327	broad.mit.edu	37	8	42046464	42046464	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:42046464C>G	ENST00000220809.4	-	4	497	c.241G>C	c.(241-243)Gtg>Ctg	p.V81L	PLAT_ENST00000429710.2_Missense_Mutation_p.V81L|PLAT_ENST00000429089.2_Missense_Mutation_p.V81L|PLAT_ENST00000524009.1_Missense_Mutation_p.V81L|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.V81L|PLAT_ENST00000270189.6_Missense_Mutation_p.V81L	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	81	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TTGACAGGCACTGAGTGGCAC	0.572																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(241-243)Gtg>Ctg		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						227.0	223.0	225.0					8																	42046464		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42046464C>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.241G>C	8.37:g.42046464C>G	ENSP00000220809:p.Val81Leu		Somatic				PLAT_ENST00000519510.1_Missense_Mutation_p.V81L|PLAT_ENST00000270189.6_Missense_Mutation_p.V81L|PLAT_ENST00000524009.1_Missense_Mutation_p.V81L|PLAT_ENST00000429089.2_Missense_Mutation_p.V81L|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.V81L	p.V81L	NM_000930.3	NP_000921.1	WXS	Illumina GAIIx	Phase_I	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	497	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	81			Fibronectin type-I.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.241G>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429459	0.25726	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;D;D;D;T;D;T;T	0.87729	-0.74;-2.21;-2.21;-2.29;0.07;-2.27;-1.13;-1.21	5.19	4.31	0.51392	Fibronectin, type I (2);Complement control module (1);	0.189725	0.44902	D	0.000414	D	0.91868	0.7426	M	0.79475	2.455	0.51233	D	0.999913	B;D;D;B	0.69078	0.397;0.997;0.994;0.061	B;D;P;B	0.63488	0.206;0.915;0.792;0.092	D	0.90739	0.4648	10	0.33141	T	0.24	.	13.5726	0.61856	0.1556:0.8444:0.0:0.0	.	81;81;81;81	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	L	81	ENSP00000270189:V81L;ENSP00000392045:V81L;ENSP00000220809:V81L;ENSP00000428886:V81L;ENSP00000407861:V81L;ENSP00000429401:V81L;ENSP00000428797:V81L;ENSP00000429801:V81L	ENSP00000220809:V81L	V	-	1	0	PLAT	42165621	0.999000	0.42202	0.972000	0.41901	0.002000	0.02628	5.394000	0.66285	1.193000	0.43086	-0.175000	0.13238	GTG		0.572	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		7	908	0	0	0	1	0	7	908				
KIF4B	285643	broad.mit.edu	37	5	154396945	154396945	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:154396945G>A	ENST00000435029.4	+	1	3686	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1176	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGTGACATGGAGCAGGTGCT	0.512																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3526-3528)Gag>Aag		kinesin family member 4B							78.0	82.0	81.0					5																	154396945		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396945G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3526G>A	5.37:g.154396945G>A	ENSP00000387875:p.Glu1176Lys		Somatic					p.E1176K	NM_001099293.1	NP_001092763.1	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3686	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1176			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3526G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380742	0.24944	.	.	ENSG00000226650	ENST00000435029	T	0.51071	0.72	1.77	1.77	0.24775	.	.	.	.	.	T	0.31104	0.0786	N	0.22421	0.69	0.25330	N	0.989043	B	0.02656	0.0	B	0.04013	0.001	T	0.16571	-1.0398	9	0.27785	T	0.31	.	9.5105	0.39074	0.0:0.0:1.0:0.0	.	1176	Q2VIQ3	KIF4B_HUMAN	K	1176	ENSP00000387875:E1176K	ENSP00000387875:E1176K	E	+	1	0	KIF4B	154377138	0.045000	0.20229	0.005000	0.12908	0.002000	0.02628	0.839000	0.27586	1.290000	0.44636	0.563000	0.77884	GAG		0.512	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			4	209	0	0	0	1	0	4	209				
RNF8	9025	broad.mit.edu	37	6	37328288	37328288	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:37328288T>C	ENST00000373479.4	+	2	371	c.178T>C	c.(178-180)Tct>Cct	p.S60P	RNF8_ENST00000394443.4_Missense_Mutation_p.S60P|RNF8_ENST00000479516.1_3'UTR|RN7SL273P_ENST00000481561.2_RNA|RNF8_ENST00000469731.1_Missense_Mutation_p.S60P	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	60	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CCTGATGATTTCTCGAAACCA	0.423																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(178-180)Tct>Cct		ring finger protein 8, E3 ubiquitin protein ligase							142.0	133.0	136.0					6																	37328288		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37328288T>C	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.178T>C	6.37:g.37328288T>C	ENSP00000362578:p.Ser60Pro		Somatic				RNF8_ENST00000394443.4_Missense_Mutation_p.S60P|RNF8_ENST00000469731.1_Missense_Mutation_p.S60P|RNF8_ENST00000479516.1_3'UTR	p.S60P	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	WXS	Illumina GAIIx	Phase_I	O76064	RNF8_HUMAN			2	371	+			60			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.178T>C	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610450	0.87258	.	.	ENSG00000112130	ENST00000373479;ENST00000394443;ENST00000487950;ENST00000469731	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	5.18	5.18	0.71444	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.97516	4.02	0.52099	D	0.999947	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.99552	1.0966	10	0.87932	D	0	-4.4493	14.2111	0.65764	0.0:0.0:0.0:1.0	.	3;60	C9J858;O76064	.;RNF8_HUMAN	P	60;60;3;60	ENSP00000362578:S60P;ENSP00000377961:S60P;ENSP00000417736:S3P;ENSP00000418879:S60P	ENSP00000229866:S60P	S	+	1	0	RNF8	37436266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.870000	0.75526	1.961000	0.56991	0.455000	0.32223	TCT		0.423	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			4	455	0	0	0	1	0	4	455				
SHCBP1L	81626	broad.mit.edu	37	1	182922161	182922161	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:182922161G>A	ENST00000367547.3	-	1	344	c.108C>T	c.(106-108)gcC>gcT	p.A36A	SHCBP1L_ENST00000423786.1_5'Flank|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	108										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GGGTGGTCGCGGCCGCCGTGT	0.741																																						ENST00000367547.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(106-108)gcC>gcT		SHC SH2-domain binding protein 1-like							3.0	3.0	3.0					1																	182922161		1730	3638	5368	SO:0001819	synonymous_variant	81626							g.chr1:182922161G>A	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.108C>T	1.37:g.182922161G>A			Somatic				SHCBP1L_ENST00000488956.1_5'UTR	p.A36A	NM_030933.2	NP_112195.2	WXS	Illumina GAIIx	Phase_I	Q9BZQ2	SHP1L_HUMAN			1	344	-			108					Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	c.108C>T	CCDS30955.1																																																																																				0.741	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		2	6	0	0	0	1	0	2	6				
TRPM2	7226	broad.mit.edu	37	21	45811201	45811201	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:45811201A>T	ENST00000397928.1	+	11	1932	c.1487A>T	c.(1486-1488)aAg>aTg	p.K496M	TRPM2_ENST00000397932.2_Missense_Mutation_p.K496M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.K496M|TRPM2_ENST00000300481.9_Missense_Mutation_p.K496M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	496					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATCTCCAACAAGCCTGAGTTT	0.542																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1486-1488)aAg>aTg		transient receptor potential cation channel, subfamily M, member 2							136.0	99.0	112.0					21																	45811201		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811201A>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1487A>T	21.37:g.45811201A>T	ENSP00000381023:p.Lys496Met		Somatic				TRPM2_ENST00000397932.2_Missense_Mutation_p.K496M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.K496M|TRPM2_ENST00000300481.9_Missense_Mutation_p.K496M	p.K496M	NM_003307.3	NP_003298.1	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			11	1932	+			496					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1487A>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979588	0.74360	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.84326	2.69	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.68621	0.959;0.935;0.935	T	0.78816	-0.2055	10	0.87932	D	0	-34.1471	15.1015	0.72279	1.0:0.0:0.0:0.0	.	496;282;496	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	496	ENSP00000300482:K496M;ENSP00000381023:K496M;ENSP00000300481:K496M;ENSP00000381026:K496M	ENSP00000300481:K496M	K	+	2	0	TRPM2	44635629	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	6.555000	0.73928	1.987000	0.57996	0.533000	0.62120	AAG		0.542	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		9	741	0	0	0	1	0	9	741				
IGDCC3	9543	broad.mit.edu	37	15	65622727	65622727	+	Missense_Mutation	SNP	C	C	T	rs373551376		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:65622727C>T	ENST00000327987.4	-	11	2013	c.1762G>A	c.(1762-1764)Gca>Aca	p.A588T	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	588	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCATACACTGCAGTGGGGTCT	0.597																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1762-1764)Gca>Aca		immunoglobulin superfamily, DCC subclass, member 3							139.0	116.0	124.0					15																	65622727		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65622727C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1762G>A	15.37:g.65622727C>T	ENSP00000332773:p.Ala588Thr		Somatic					p.A588T	NM_004884.3	NP_004875.2	WXS	Illumina GAIIx	Phase_I	Q8IVU1	IGDC3_HUMAN			11	2013	-			588			Fibronectin type-III 2.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1762G>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.609374	0.00842	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.49139	0.79	5.26	0.562	0.17290	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.948764	0.08869	N	0.881826	T	0.17874	0.0429	N	0.02916	-0.46	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.25950	-1.0117	10	0.02654	T	1	-3.1016	5.9485	0.19232	0.1184:0.5663:0.0:0.3153	.	588	Q8IVU1	IGDC3_HUMAN	T	588;451	ENSP00000332773:A588T	ENSP00000332773:A588T	A	-	1	0	IGDCC3	63409780	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	0.555000	0.23422	-0.153000	0.11137	-0.811000	0.03165	GCA		0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		6	414	0	0	0	1	0	6	414				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T			Somatic				CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	5	375	0	0	0	1	0	5	375				
COL1A2	1278	broad.mit.edu	37	7	94055151	94055151	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:94055151T>A	ENST00000297268.6	+	44	3396	c.2925T>A	c.(2923-2925)caT>caA	p.H975Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	975					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.H975Q(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCAAACATGGAAACCGTG	0.567										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)	p.H975Q(1)	kidney(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2923-2925)caT>caA		collagen, type I, alpha 2	Collagenase(DB00048)						103.0	99.0	100.0					7																	94055151		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94055151T>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2925T>A	7.37:g.94055151T>A	ENSP00000297268:p.His975Gln	HNSCC(75;0.22)	Somatic					p.H975Q	NM_000089.3	NP_000080.2	WXS	Illumina GAIIx	Phase_I	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		44	3396	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		975					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2925T>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420022	0.25552	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.91740	-2.9	5.32	-3.1	0.05315	.	0.110546	0.64402	D	0.000007	T	0.69548	0.3123	N	0.00801	-1.175	0.30943	N	0.725608	B	0.24132	0.098	B	0.22601	0.04	T	0.66818	-0.5827	10	0.07482	T	0.82	.	11.4362	0.50070	0.0:0.3929:0.0:0.6071	.	975	P08123	CO1A2_HUMAN	Q	975;976	ENSP00000297268:H975Q	ENSP00000297268:H975Q	H	+	3	2	COL1A2	93893087	1.000000	0.71417	0.978000	0.43139	0.964000	0.63967	0.800000	0.27042	-0.586000	0.05898	-0.290000	0.09829	CAT		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		6	157	0	0	0	1	0	6	157				
ESYT1	23344	broad.mit.edu	37	12	56527247	56527247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56527247G>A	ENST00000394048.5	+	11	1555	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	ESYT1_ENST00000541590.1_Missense_Mutation_p.D431N|ESYT1_ENST00000267113.4_Missense_Mutation_p.D431N	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	431					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CGTTCTGGATGATGTAAGTTG	0.488																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1291-1293)Gat>Aat		extended synaptotagmin-like protein 1							173.0	158.0	163.0					12																	56527247		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527247G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1291G>A	12.37:g.56527247G>A	ENSP00000377612:p.Asp431Asn		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.D431N|ESYT1_ENST00000541590.1_Missense_Mutation_p.D431N	p.D431N	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			11	1555	+			431					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1291G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422387	0.43020	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.09538	2.97;2.97;2.97	4.51	1.64	0.23874	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.656642	0.16321	N	0.219541	T	0.05914	0.0154	N	0.16478	0.41	0.29807	N	0.831959	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.001	T	0.32348	-0.9910	10	0.21540	T	0.41	-2.3629	7.4542	0.27257	0.3793:0.0:0.6207:0.0	.	431;431	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	N	431;385;431;431	ENSP00000377612:D431N;ENSP00000267113:D431N;ENSP00000445952:D431N	ENSP00000267113:D431N	D	+	1	0	ESYT1	54813514	1.000000	0.71417	0.958000	0.39756	0.707000	0.40811	2.025000	0.41059	0.628000	0.30357	0.563000	0.77884	GAT		0.488	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	343	0	0	0	1	0	5	343				
HIF3A	64344	broad.mit.edu	37	19	46828803	46828803	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:46828803A>G	ENST00000377670.4	+	11	1378	c.1347A>G	c.(1345-1347)ccA>ccG	p.P449P	HIF3A_ENST00000244303.6_Silent_p.P380P|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Silent_p.P398P|HIF3A_ENST00000472815.1_Silent_p.P380P|HIF3A_ENST00000339613.2_Silent_p.P393P|HIF3A_ENST00000600383.1_Silent_p.P380P|HIF3A_ENST00000300862.3_Silent_p.P447P	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	449					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGATCTCCCAGATGAACTAC	0.498																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(1177-1179)ccA>ccG		hypoxia inducible factor 3, alpha subunit							152.0	152.0	152.0					19																	46828803		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46828803A>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1347A>G	19.37:g.46828803A>G			Somatic				HIF3A_ENST00000472815.1_Silent_p.P380P|HIF3A_ENST00000300862.3_Silent_p.P447P|HIF3A_ENST00000600383.1_Silent_p.P380P|HIF3A_ENST00000244303.6_Silent_p.P380P|HIF3A_ENST00000420102.2_Silent_p.P398P|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000377670.4_Silent_p.P449P	p.P393P			WXS	Illumina GAIIx	Phase_I	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	11	1434	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	449					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.1179A>G	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297978	0.23650	.	.	ENSG00000124440	ENST00000472815	.	.	.	4.57	-0.949	0.10376	.	.	.	.	.	T	0.50000	0.1590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37820	-0.9689	4	.	.	.	.	4.9752	0.14136	0.3745:0.2038:0.4216:0.0	.	.	.	.	G	422	.	.	R	+	1	2	HIF3A	51520643	0.616000	0.27035	0.735000	0.30896	0.968000	0.65278	-0.233000	0.09041	-0.177000	0.10690	0.528000	0.53228	AGA		0.498	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			7	597	0	0	0	1	0	7	597				
DPYD	1806	broad.mit.edu	37	1	98039406	98039406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:98039406C>A	ENST00000370192.3	-	11	1349	c.1249G>T	c.(1249-1251)Gga>Tga	p.G417*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	417					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCCATTTTCCAGTTTCATCT	0.438																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(1249-1251)Gga>Tga		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						221.0	185.0	198.0					1																	98039406		2203	4300	6503	SO:0001587	stop_gained	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98039406C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1249G>T	1.37:g.98039406C>A	ENSP00000359211:p.Gly417*		Somatic					p.G417*	NM_000110.3	NP_000101.2	WXS	Illumina GAIIx	Phase_I	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	11	1349	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	417					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP	ENST00000370192.3	37	c.1249G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	39	7.536834	0.98345	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6102	17.8525	0.88751	0.0:1.0:0.0:0.0	.	.	.	.	X	417	.	ENSP00000359211:G417X	G	-	1	0	DPYD	97811994	1.000000	0.71417	0.954000	0.39281	0.755000	0.42902	7.432000	0.80349	2.737000	0.93849	0.650000	0.86243	GGA		0.438	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		7	336	1	0	7.48243e-07	1	8.16646e-07	7	336				
WDR62	284403	broad.mit.edu	37	19	36564376	36564376	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:36564376C>T	ENST00000270301.7	+	9	1176	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	WDR62_ENST00000401500.2_Silent_p.N392N|WDR62_ENST00000388999.3_Silent_p.N392N|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	392					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGACATCAACAGAGTGGGCA	0.587																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1174-1176)aaC>aaT		WD repeat domain 62							148.0	115.0	126.0					19																	36564376		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36564376C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1176C>T	19.37:g.36564376C>T			Somatic				WDR62_ENST00000388999.3_Silent_p.N392N|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Silent_p.N392N	p.N392N	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	WXS	Illumina GAIIx	Phase_I	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1211	+	Esophageal squamous(110;0.162)		392					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.1176C>T	CCDS33001.1																																																																																				0.587	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		12	614	0	0	0	1	0	12	614				
HERC1	8925	broad.mit.edu	37	15	64021797	64021797	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:64021797T>C	ENST00000443617.2	-	15	3007	c.2920A>G	c.(2920-2922)Aca>Gca	p.T974A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	974					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GATGATGATGTTCCAAGTAGA	0.358																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2920-2922)Aca>Gca		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							102.0	94.0	96.0					15																	64021797		1877	4128	6005	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64021797T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2920A>G	15.37:g.64021797T>C	ENSP00000390158:p.Thr974Ala		Somatic					p.T974A	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			15	3007	-			974					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2920A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	9.462	1.093403	0.20471	.	.	ENSG00000103657	ENST00000443617	T	0.36157	1.27	5.33	4.22	0.49857	.	0.137823	0.47852	U	0.000217	T	0.20414	0.0491	N	0.19112	0.55	0.35797	D	0.822843	B	0.02656	0.0	B	0.04013	0.001	T	0.16630	-1.0396	10	0.16420	T	0.52	.	8.1911	0.31368	0.0:0.2246:0.0:0.7754	.	974	Q15751	HERC1_HUMAN	A	974	ENSP00000390158:T974A	ENSP00000390158:T974A	T	-	1	0	HERC1	61808850	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	1.884000	0.39668	0.868000	0.35678	0.460000	0.39030	ACA		0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	417	0	0	0	1	0	4	417				
KRTAP4-4	84616	broad.mit.edu	37	17	39316834	39316834	+	Missense_Mutation	SNP	C	C	T	rs201735937		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:39316834C>T	ENST00000390661.3	-	1	149	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	37	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.652																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(109-111)cGc>cAc		keratin associated protein 4-4							38.0	51.0	47.0					17																	39316834		2182	4289	6471	SO:0001583	missense	84616					keratin filament		g.chr17:39316834C>T	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.110G>A	17.37:g.39316834C>T	ENSP00000375076:p.Arg37His		Somatic					p.R37H	NM_032524.1	NP_115913.1	WXS	Illumina GAIIx	Phase_I	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	149	-		Breast(137;0.000496)	37			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.110G>A	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.626581	0.46840	.	.	ENSG00000171396	ENST00000390661	T	0.01495	4.83	5.25	0.674	0.17946	.	0.575390	0.11899	N	0.518835	T	0.04497	0.0123	H	0.94542	3.55	0.09310	N	1	B	0.30236	0.274	B	0.23275	0.045	T	0.18209	-1.0344	10	0.59425	D	0.04	.	5.1247	0.14878	0.3927:0.4434:0.0:0.1638	.	37	Q9BYR3	KRA44_HUMAN	H	37	ENSP00000375076:R37H	ENSP00000375076:R37H	R	-	2	0	KRTAP4-4	36570360	0.000000	0.05858	0.943000	0.38184	0.985000	0.73830	-2.118000	0.01325	0.580000	0.29522	-0.234000	0.12200	CGC		0.652	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			6	481	0	0	0	1	0	6	481				
CABIN1	23523	broad.mit.edu	37	22	24460619	24460619	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:24460619T>C	ENST00000398319.2	+	15	2391	c.2006T>C	c.(2005-2007)cTc>cCc	p.L669P	CABIN1_ENST00000405822.2_Missense_Mutation_p.L619P|CABIN1_ENST00000263119.5_Missense_Mutation_p.L669P	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	669					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGCCCAACCTCCATAATGAC	0.498																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2005-2007)cTc>cCc		calcineurin binding protein 1							186.0	152.0	163.0					22																	24460619		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24460619T>C	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2006T>C	22.37:g.24460619T>C	ENSP00000381364:p.Leu669Pro		Somatic				CABIN1_ENST00000263119.5_Missense_Mutation_p.L669P|CABIN1_ENST00000405822.2_Missense_Mutation_p.L619P	p.L669P	NM_001199281.1	NP_001186210.1	WXS	Illumina GAIIx	Phase_I	Q9Y6J0	CABIN_HUMAN			15	2391	+			669					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.2006T>C	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377844	0.82682	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.37752	1.18;1.18;1.18	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.58463	-0.7632	10	0.62326	D	0.03	.	15.5188	0.75846	0.0:0.0:0.0:1.0	.	619;669	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	P	669;619;669	ENSP00000263119:L669P;ENSP00000384694:L619P;ENSP00000381364:L669P	ENSP00000263119:L669P	L	+	2	0	CABIN1	22790619	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.683000	0.84093	2.322000	0.78497	0.529000	0.55759	CTC		0.498	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		6	829	0	0	0	1	0	6	829				
ADAM30	11085	broad.mit.edu	37	1	120437842	120437842	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:120437842C>T	ENST00000369400.1	-	1	1276	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GATATAACTGCAATTGCTAAA	0.403																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1117-1119)tGc>tAc		ADAM metallopeptidase domain 30							129.0	126.0	127.0					1																	120437842		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437842C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1118G>A	1.37:g.120437842C>T	ENSP00000358407:p.Cys373Tyr		Somatic					p.C373Y	NM_021794.3	NP_068566.2	WXS	Illumina GAIIx	Phase_I	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1276	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	373			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1118G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146196	0.37923	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.22539	1.95	4.88	4.88	0.63580	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.51477	D	0.000095	T	0.51278	0.1665	H	0.95745	3.715	0.42677	D	0.993533	D	0.76494	0.999	D	0.83275	0.996	T	0.65467	-0.6161	10	0.87932	D	0	.	13.4215	0.61001	0.0:1.0:0.0:0.0	.	373	Q9UKF2	ADA30_HUMAN	Y	373	ENSP00000358407:C373Y	ENSP00000358407:C373Y	C	-	2	0	ADAM30	120239365	1.000000	0.71417	0.987000	0.45799	0.013000	0.08279	4.810000	0.62598	2.530000	0.85305	0.563000	0.77884	TGC		0.403	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		6	316	0	0	0	1	0	6	316				
NCAPD2	9918	broad.mit.edu	37	12	6635725	6635725	+	Missense_Mutation	SNP	G	G	C	rs149823221		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6635725G>C	ENST00000315579.5	+	21	3477	c.2678G>C	c.(2677-2679)tGt>tCt	p.C893S	NCAPD2_ENST00000545962.1_Missense_Mutation_p.C848S|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	893					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TTGCAGGGCTGTGCAAAACAG	0.567																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2677-2679)tGt>tCt		non-SMC condensin I complex, subunit D2		G	SER/CYS	0,4406		0,0,2203	55.0	58.0	57.0		2678	5.0	1.0	12	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	NCAPD2	NM_014865.3	112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	893/1402	6635725	1,13005	2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6635725G>C	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2678G>C	12.37:g.6635725G>C	ENSP00000325017:p.Cys893Ser		Somatic				NCAPD2_ENST00000545962.1_Missense_Mutation_p.C848S|NCAPD2_ENST00000542492.1_3'UTR	p.C893S	NM_014865.3	NP_055680.3	WXS	Illumina GAIIx	Phase_I	Q15021	CND1_HUMAN			21	3477	+			893					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2678G>C	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832369	0.32421	0.0	1.16E-4	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.28454	2.59;1.61;2.32	4.97	4.97	0.65823	Armadillo-type fold (1);	0.046375	0.85682	D	0.000000	T	0.26955	0.0660	L	0.28400	0.85	0.46874	D	0.999239	B;B;B	0.27316	0.175;0.013;0.11	B;B;B	0.27887	0.084;0.014;0.039	T	0.04203	-1.0969	10	0.39692	T	0.17	-11.4951	18.4103	0.90549	0.0:0.0:1.0:0.0	.	848;854;893	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	S	893;765;848;765	ENSP00000325017:C893S;ENSP00000371895:C765S;ENSP00000444417:C848S	ENSP00000325017:C893S	C	+	2	0	NCAPD2	6505986	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	5.665000	0.68052	2.572000	0.86782	0.655000	0.94253	TGT		0.567	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		31	204	0	0	0	1	0	31	204				
PTPRT	11122	broad.mit.edu	37	20	40710628	40710628	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:40710628C>G	ENST00000373187.1	-	30	4165	c.4166G>C	c.(4165-4167)tGt>tCt	p.C1389S	PTPRT_ENST00000373198.4_Missense_Mutation_p.C1408S|PTPRT_ENST00000373184.1_Missense_Mutation_p.C1399S|PTPRT_ENST00000373190.1_Missense_Mutation_p.C1388S|PTPRT_ENST00000356100.2_Missense_Mutation_p.C1398S|PTPRT_ENST00000373201.1_Missense_Mutation_p.C1379S|PTPRT_ENST00000373193.3_Missense_Mutation_p.C1392S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1389	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAGATGGCACAGAAGGTTCC	0.483																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(4231-4233)tGt>tCt		protein tyrosine phosphatase, receptor type, T							145.0	144.0	144.0					20																	40710628		2097	4230	6327	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40710628C>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4166G>C	20.37:g.40710628C>G	ENSP00000362283:p.Cys1389Ser		Somatic				PTPRT_ENST00000373201.1_Missense_Mutation_p.C1379S|PTPRT_ENST00000373184.1_Missense_Mutation_p.C1399S|PTPRT_ENST00000373193.3_Missense_Mutation_p.C1392S|PTPRT_ENST00000373187.1_Missense_Mutation_p.C1389S|PTPRT_ENST00000373190.1_Missense_Mutation_p.C1388S|PTPRT_ENST00000356100.2_Missense_Mutation_p.C1398S	p.C1411S	NM_133170.3	NP_573400.3	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			31	4467	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1389			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4232G>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454782	0.96223	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.91612	3.225	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.76575	0.98;0.988	T	0.61695	-0.7010	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1411;1389	O14522-1;O14522	.;PTPRT_HUMAN	S	1388;1389;1392;1398;1411;1399;1379	ENSP00000362286:C1388S;ENSP00000362283:C1389S;ENSP00000362289:C1392S;ENSP00000348408:C1398S;ENSP00000362294:C1411S;ENSP00000362280:C1399S;ENSP00000362297:C1379S	ENSP00000348408:C1398S	C	-	2	0	PTPRT	40144042	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.792000	0.85828	2.884000	0.98904	0.655000	0.94253	TGT		0.483	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			13	2117	0	0	0	1	0	13	2117				
KLHL20	27252	broad.mit.edu	37	1	173720961	173720961	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:173720961C>G	ENST00000209884.4	+	4	792	c.656C>G	c.(655-657)tCc>tGc	p.S219C	KLHL20_ENST00000546011.1_Missense_Mutation_p.S30C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	219	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GATATAATATCCAGTGATGAG	0.403																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(655-657)tCc>tGc		kelch-like family member 20							96.0	85.0	89.0					1																	173720961		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173720961C>G	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.656C>G	1.37:g.173720961C>G	ENSP00000209884:p.Ser219Cys		Somatic				KLHL20_ENST00000546011.1_Missense_Mutation_p.S30C	p.S219C	NM_014458.3	NP_055273.2	WXS	Illumina GAIIx	Phase_I	Q9Y2M5	KLH20_HUMAN			4	792	+			219			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.656C>G	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889756	0.52014	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.71817	-0.6;-0.6	5.38	5.38	0.77491	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.83774	2.66	0.80722	D	1	B;B	0.26708	0.076;0.157	B;B	0.28139	0.06;0.086	T	0.68591	-0.5368	10	0.42905	T	0.14	.	17.892	0.88875	0.0:1.0:0.0:0.0	.	30;219	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	C	30;219	ENSP00000443121:S30C;ENSP00000209884:S219C	ENSP00000209884:S219C	S	+	2	0	KLHL20	171987584	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.464000	0.80887	2.490000	0.84030	0.591000	0.81541	TCC		0.403	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		4	77	0	0	0	1	0	4	77				
ARID1B	57492	broad.mit.edu	37	6	157511244	157511244	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:157511244G>A	ENST00000350026.5	+	14	3724	c.3723G>A	c.(3721-3723)atG>atA	p.M1241I	ARID1B_ENST00000346085.5_Missense_Mutation_p.M1254I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1236I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1294I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1241					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.M1254I(1)|p.M1236I(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGAACTCCATGACTCCAAACG	0.517																																						ENST00000346085.5																			2	Substitution - Missense(2)	p.M1254I(1)|p.M1236I(1)	kidney(2)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3760-3762)atG>atA		AT rich interactive domain 1B (SWI1-like)							137.0	135.0	135.0					6																	157511244		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157511244G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3723G>A	6.37:g.157511244G>A	ENSP00000055163:p.Met1241Ile		Somatic				ARID1B_ENST00000367148.1_Missense_Mutation_p.M1294I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1236I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1241I	p.M1254I	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	15	3763	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1241					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3762G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325236	0.60743	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02121	4.73;4.75;4.8;4.8;4.44	5.95	5.95	0.96441	.	0.093261	0.64402	D	0.000001	T	0.01940	0.0061	L	0.50333	1.59	0.80722	D	1	B;B;B	0.29988	0.172;0.264;0.264	B;B;B	0.24269	0.023;0.052;0.052	T	0.53258	-0.8464	10	0.62326	D	0.03	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1241;1254;1236	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	I	1254;1241;1294;1236;763	ENSP00000344546:M1254I;ENSP00000055163:M1241I;ENSP00000356116:M1294I;ENSP00000275248:M1236I;ENSP00000412835:M763I	ENSP00000275248:M1236I	M	+	3	0	ARID1B	157552936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.334000	0.96470	2.824000	0.97209	0.655000	0.94253	ATG		0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		164	76	0	0	0	1	0	164	76				
GABRA1	2554	broad.mit.edu	37	5	161277882	161277882	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:161277882T>A	ENST00000428797.2	+	3	421	c.66T>A	c.(64-66)acT>acA	p.T22T	GABRA1_ENST00000023897.6_Silent_p.T22T|GABRA1_ENST00000444819.1_Silent_p.T22T|GABRA1_ENST00000420560.1_Silent_p.T22T|GABRA1_ENST00000437025.2_Silent_p.T22T|GABRA1_ENST00000393943.4_Silent_p.T22T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	22					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCACACTGACTGGAAGAAGGT	0.413																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(64-66)acT>acA		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						91.0	86.0	87.0					5																	161277882		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161277882T>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.66T>A	5.37:g.161277882T>A			Somatic				GABRA1_ENST00000444819.1_Silent_p.T22T|GABRA1_ENST00000023897.6_Silent_p.T22T|GABRA1_ENST00000393943.4_Silent_p.T22T|GABRA1_ENST00000437025.2_Silent_p.T22T|GABRA1_ENST00000420560.1_Silent_p.T22T	p.T22T	NM_001127643.1	NP_001121115.1	WXS	Illumina GAIIx	Phase_I	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	3	421	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	22					D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.66T>A	CCDS4357.1																																																																																				0.413	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		62	141	0	0	0	1	0	62	141				
CCDC14	64770	broad.mit.edu	37	3	123634543	123634543	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:123634543T>C	ENST00000488653.2	-	13	2035	c.1945A>G	c.(1945-1947)Aag>Gag	p.K649E	CCDC14_ENST00000489746.1_Missense_Mutation_p.K449E|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000485727.1_Missense_Mutation_p.K449E|CCDC14_ENST00000310351.4_Missense_Mutation_p.K489E|CCDC14_ENST00000433542.2_Missense_Mutation_p.K608E			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	649					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.K489E(1)|p.K608E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGAGAAGCTTTGCCATGCTA	0.363																																						ENST00000485727.1																			2	Substitution - Missense(2)	p.K489E(1)|p.K608E(1)	kidney(2)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21						c.(1345-1347)Aag>Gag		coiled-coil domain containing 14							91.0	96.0	95.0					3																	123634543		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123634543T>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1945A>G	3.37:g.123634543T>C	ENSP00000420180:p.Lys649Glu		Somatic				CCDC14_ENST00000433542.2_Missense_Mutation_p.K608E|CCDC14_ENST00000310351.4_Missense_Mutation_p.K489E|CCDC14_ENST00000489746.1_Missense_Mutation_p.K449E|CCDC14_ENST00000488653.2_Missense_Mutation_p.K649E|CCDC14_ENST00000483247.1_Intron	p.K449E			WXS	Illumina GAIIx	Phase_I	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	9	5937	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	649					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.1345A>G		.	.	.	.	.	.	.	.	.	.	T	14.37	2.515224	0.44763	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	5.32	4.16	0.48862	.	0.147320	0.45867	D	0.000326	T	0.54398	0.1856	L	0.53249	1.67	0.27697	N	0.945906	P;P;P	0.51351	0.944;0.944;0.901	P;P;P	0.48270	0.572;0.572;0.475	T	0.54715	-0.8252	10	0.52906	T	0.07	.	13.4759	0.61308	0.0:0.0:0.1383:0.8617	.	649;608;490	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	E	649;489;449;449;608;630	ENSP00000420180:K649E;ENSP00000312031:K489E;ENSP00000418002:K449E;ENSP00000418403:K449E;ENSP00000395706:K608E;ENSP00000386866:K630E	ENSP00000312031:K489E	K	-	1	0	CCDC14	125117233	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	2.813000	0.48002	2.238000	0.73509	0.533000	0.62120	AAG		0.363	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		16	181	0	0	0	1	0	16	181				
UHRF1BP1L	23074	broad.mit.edu	37	12	100451384	100451384	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:100451384C>T	ENST00000279907.7	-	15	3601	c.3389G>A	c.(3388-3390)aGt>aAt	p.S1130N	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S780N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1130										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTCCATCACTTTCTAATAA	0.338																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3388-3390)aGt>aAt		UHRF1 binding protein 1-like							110.0	102.0	105.0					12																	100451384		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100451384C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3389G>A	12.37:g.100451384C>T	ENSP00000279907:p.Ser1130Asn		Somatic				UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S780N	p.S1130N	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			15	3601	-			1130					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3389G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158285	0.78114	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.26223	1.75;1.75	5.7	3.85	0.44370	.	0.056323	0.64402	D	0.000001	T	0.49012	0.1532	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54536	-0.8279	10	0.87932	D	0	-11.1216	13.419	0.60985	0.0:0.866:0.0:0.134	.	1130	A0JNW5	UH1BL_HUMAN	N	1130;780	ENSP00000279907:S1130N;ENSP00000444824:S780N	ENSP00000279907:S1130N	S	-	2	0	UHRF1BP1L	98975515	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.551000	0.60740	1.544000	0.49359	0.650000	0.86243	AGT		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		23	115	0	0	0	1	0	23	115				
ATP7A	538	broad.mit.edu	37	X	77296233	77296233	+	Splice_Site	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:77296233T>C	ENST00000341514.6	+	19	3956		c.e19+2		ATP7A_ENST00000350425.4_Splice_Site|ATP7A_ENST00000343533.5_Splice_Site	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide						blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCTTCTCAGGTAATTGATAGG	0.328																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.e19+2		ATPase, Cu++ transporting, alpha polypeptide							150.0	144.0	146.0					X																	77296233		2203	4297	6500	SO:0001630	splice_region_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77296233T>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3801+2T>C	X.37:g.77296233T>C			Somatic				ATP7A_ENST00000343533.5_Splice_Site|ATP7A_ENST00000350425.4_Splice_Site		NM_000052.5	NP_000043.3	WXS	Illumina GAIIx	Phase_I	Q04656	ATP7A_HUMAN			19	3956	+								B1AT72|O00227|O00745|Q9BYY8	Splice_Site	SNP	ENST00000341514.6	37		CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427278	0.62733	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.46	0.61221	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP7A	77182889	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	7.893000	0.87330	1.619000	0.50296	0.158000	0.16466	.		0.328	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	Intron	3	140	0	0	0	1	0	3	140				
ZNF732	654254	broad.mit.edu	37	4	265156	265156	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:265156G>C	ENST00000419098.1	-	4	1500	c.1490C>G	c.(1489-1491)aCt>aGt	p.T497S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	497					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.T497S(1)		endometrium(1)|lung(2)	3						TTTCTCTCCAGTATGAATTGT	0.378																																						ENST00000419098.1																			1	Substitution - Missense(1)	p.T497S(1)	kidney(1)	endometrium(1)|lung(2)	3						c.(1489-1491)aCt>aGt		zinc finger protein 732							60.0	55.0	56.0					4																	265156		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265156G>C	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1490C>G	4.37:g.265156G>C	ENSP00000415774:p.Thr497Ser		Somatic					p.T497S	NM_001137608.1	NP_001131080.1	WXS	Illumina GAIIx	Phase_I	B4DXR9	ZN732_HUMAN			4	1500	-			497						Missense_Mutation	SNP	ENST00000419098.1	37	c.1490C>G	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728488	0.30593	.	.	ENSG00000186777	ENST00000419098	T	0.24151	1.87	0.977	-0.566	0.11767	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.12831	0.26	0.24725	N	0.993126	B	0.21688	0.059	B	0.18263	0.021	T	0.23261	-1.0193	9	0.51188	T	0.08	.	5.3022	0.15783	0.2526:0.0:0.7474:0.0	.	497	B4DXR9	ZN732_HUMAN	S	497	ENSP00000415774:T497S	ENSP00000415774:T497S	T	-	2	0	ZNF732	255156	0.044000	0.20184	0.073000	0.20177	0.068000	0.16541	1.088000	0.30877	-0.502000	0.06596	-0.497000	0.04613	ACT		0.378	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		5	9	0	0	0	1	0	5	9				
ARHGEF6	9459	broad.mit.edu	37	X	135825851	135825851	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:135825851T>C	ENST00000250617.6	-	5	1759	c.554A>G	c.(553-555)gAc>gGc	p.D185G	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.D31G|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.D31G|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.D31G	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	185	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTAAATGATGTCCCCCTTACA	0.423																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(553-555)gAc>gGc		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							234.0	193.0	207.0					X																	135825851		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825851T>C	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.554A>G	X.37:g.135825851T>C	ENSP00000250617:p.Asp185Gly		Somatic				ARHGEF6_ENST00000535227.1_Missense_Mutation_p.D31G|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.D31G|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.D31G	p.D185G	NM_004840.2	NP_004831.1	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			5	1759	-	Acute lymphoblastic leukemia(192;0.000127)		185			SH3.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.554A>G	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821204	0.90873	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	6.08	6.08	0.98989	Src homology-3 domain (4);Variant SH3 (1);	0.080625	0.85682	D	0.000000	D	0.87378	0.6162	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.994	D	0.92183	0.5753	10	0.87932	D	0	.	15.4992	0.75684	0.0:0.0:0.0:1.0	.	31;185	B7Z3C7;Q15052	.;ARHG6_HUMAN	G	185;31;31;31;31	ENSP00000250617:D185G;ENSP00000359654:D31G;ENSP00000359656:D31G;ENSP00000439483:D31G	ENSP00000250617:D185G	D	-	2	0	ARHGEF6	135653517	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.044000	0.60594	0.486000	0.48141	GAC		0.423	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		9	312	0	0	0	1	0	9	312				
ADD1	118	broad.mit.edu	37	4	2900173	2900173	+	Missense_Mutation	SNP	G	G	C	rs202124018		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:2900173G>C	ENST00000398129.1	+	7	919	c.899G>C	c.(898-900)cGg>cCg	p.R300P	ADD1_ENST00000513328.2_Missense_Mutation_p.R300P|ADD1_ENST00000264758.7_Missense_Mutation_p.R300P|ADD1_ENST00000398125.1_Missense_Mutation_p.R300P|ADD1_ENST00000503455.2_Missense_Mutation_p.R300P|ADD1_ENST00000398123.2_Missense_Mutation_p.R300P|ADD1_ENST00000446856.1_Missense_Mutation_p.R300P|ADD1_ENST00000355842.3_Missense_Mutation_p.R300P			P35611	ADDA_HUMAN	adducin 1 (alpha)	300					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTATTCTCCGGAACCATGGG	0.488																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(898-900)cGg>cCg		adducin 1 (alpha)							155.0	156.0	156.0					4																	2900173		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2900173G>C	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.899G>C	4.37:g.2900173G>C	ENSP00000381197:p.Arg300Pro		Somatic				ADD1_ENST00000398129.1_Missense_Mutation_p.R300P|ADD1_ENST00000398123.2_Missense_Mutation_p.R300P|ADD1_ENST00000398125.1_Missense_Mutation_p.R300P|ADD1_ENST00000446856.1_Missense_Mutation_p.R300P|ADD1_ENST00000264758.7_Missense_Mutation_p.R300P|ADD1_ENST00000503455.2_Missense_Mutation_p.R300P|ADD1_ENST00000513328.2_Missense_Mutation_p.R300P	p.R300P			WXS	Illumina GAIIx	Phase_I	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	1762	+			300					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.899G>C	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.372731|5.372731	0.95923|0.95923	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000514940|ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	.|T;T;T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Class II aldolase/adducin, N-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77890|0.77890	0.4198|0.4198	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.997;0.999;0.996;1.0;0.998;0.996;0.998;0.997	T|T	0.82462|0.82462	-0.0445|-0.0445	5|10	.|0.72032	.|D	.|0.01	-25.6426|-25.6426	19.9699|19.9699	0.97282|0.97282	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|300;300;300;300;300;300;300;300	.|E7ENY0;E7EV99;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.|.;.;.;.;ADDA_HUMAN;.;.;.	R|P	6|300	.|ENSP00000264758:R300P;ENSP00000399828:R300P;ENSP00000381193:R300P;ENSP00000421907:R300P;ENSP00000423024:R300P;ENSP00000348100:R300P;ENSP00000381191:R300P;ENSP00000381197:R300P	.|ENSP00000264758:R300P	G|R	+|+	1|2	0|0	ADD1|ADD1	2869971|2869971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.751000|9.751000	0.98889|0.98889	2.726000|2.726000	0.93360|0.93360	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.488	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		6	420	0	0	0	1	0	6	420				
ADCK1	57143	broad.mit.edu	37	14	78398012	78398012	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:78398012C>T	ENST00000238561.5	+	10	1457	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	ADCK1_ENST00000341211.5_Missense_Mutation_p.S385F|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	460	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGCGCCAGCTCCTTTCTCAAC	0.652																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(1357-1359)tCc>tTc		aarF domain containing kinase 1							81.0	71.0	74.0					14																	78398012		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78398012C>T	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1358C>T	14.37:g.78398012C>T	ENSP00000238561:p.Ser453Phe		Somatic				ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.S385F	p.S453F	NM_020421.3	NP_065154.2	WXS	Illumina GAIIx	Phase_I	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	10	1457	+			460			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1358C>T	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911322	0.92178	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68181	-0.31;1.09	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.991	D;D;D	0.72075	0.957;0.976;0.948	D	0.85333	0.1091	10	0.56958	D	0.05	-1.7229	18.5888	0.91200	0.0:1.0:0.0:0.0	.	460;385;453	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	F	453;385	ENSP00000238561:S453F;ENSP00000339663:S385F	ENSP00000238561:S453F	S	+	2	0	ADCK1	77467765	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.454000	0.82982	0.549000	0.68633	TCC		0.652	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		8	661	0	0	0	1	0	8	661				
EBF2	64641	broad.mit.edu	37	8	25899693	25899693	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:25899693A>G	ENST00000520164.1	-	2	743	c.206T>C	c.(205-207)tTc>tCc	p.F69S	EBF2_ENST00000408929.3_5'Flank	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	69					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGCCAGGACGAAGTGAAAGAA	0.577																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(205-207)tTc>tCc		early B-cell factor 2							69.0	78.0	75.0					8																	25899693		2183	4296	6479	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25899693A>G	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.206T>C	8.37:g.25899693A>G	ENSP00000430241:p.Phe69Ser		Somatic					p.F69S	NM_022659.3	NP_073150.2	WXS	Illumina GAIIx	Phase_I	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	2	743	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	69					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.206T>C	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	A	33	5.233029	0.95207	.	.	ENSG00000221818	ENST00000520164	T	0.65916	-0.18	5.02	5.02	0.67125	.	0.000000	0.85682	U	0.000000	T	0.74215	0.3687	M	0.86420	2.815	0.80722	D	1	P	0.52842	0.956	P	0.49708	0.62	T	0.80968	-0.1145	10	0.87932	D	0	-17.3696	14.9071	0.70727	1.0:0.0:0.0:0.0	.	69	Q9HAK2	COE2_HUMAN	S	69	ENSP00000430241:F69S	ENSP00000430241:F69S	F	-	2	0	EBF2	25955610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.128000	0.65567	0.459000	0.35465	TTC		0.577	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		4	258	0	0	0	1	0	4	258				
GPATCH4	54865	broad.mit.edu	37	1	156568273	156568273	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:156568273G>A	ENST00000438976.2	-	3	138	c.108C>T	c.(106-108)ggC>ggT	p.G36G	GPATCH4_ENST00000334588.7_Intron|GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Silent_p.G31G			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	31	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCCTTCCGGCCGAGGCCTT	0.562																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(91-93)ggC>ggT		G patch domain containing 4							224.0	201.0	209.0					1																	156568273		2203	4300	6503	SO:0001819	synonymous_variant	54865					intracellular	nucleic acid binding	g.chr1:156568273G>A	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.108C>T	1.37:g.156568273G>A			Somatic				GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000334588.7_Intron|GPATCH4_ENST00000438976.2_Silent_p.G36G	p.G31G	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	WXS	Illumina GAIIx	Phase_I	Q5T3I0	GPTC4_HUMAN			3	225	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		31			G-patch.		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	ENST00000438976.2	37	c.93C>T	CCDS44245.1																																																																																				0.562	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		8	1152	0	0	0	1	0	8	1152				
LOH12CR1	118426	broad.mit.edu	37	12	12618552	12618552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:12618552C>T	ENST00000314565.4	+	4	764	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	LOH12CR1_ENST00000542728.1_Nonsense_Mutation_p.Q126*|LOH12CR1_ENST00000298571.6_Nonsense_Mutation_p.Q97*	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	145								p.Q145*(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		GTATGCCGAGCAGATCCAGAA	0.527																																						ENST00000314565.4																			1	Substitution - Nonsense(1)	p.Q145*(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(433-435)Cag>Tag		loss of heterozygosity, 12, chromosomal region 1							105.0	79.0	88.0					12																	12618552		2203	4300	6503	SO:0001587	stop_gained	118426							g.chr12:12618552C>T	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.433C>T	12.37:g.12618552C>T	ENSP00000321546:p.Gln145*		Somatic				LOH12CR1_ENST00000542728.1_Nonsense_Mutation_p.Q126*|LOH12CR1_ENST00000298571.6_Nonsense_Mutation_p.Q97*	p.Q145*	NM_058169.3	NP_477517.1	WXS	Illumina GAIIx	Phase_I	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	4	764	+		Prostate(47;0.0802)	145					Q96QS5	Nonsense_Mutation	SNP	ENST00000314565.4	37	c.433C>T	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	C	37	6.284721	0.97440	.	.	ENSG00000165714	ENST00000542728;ENST00000314565;ENST00000298571	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-18.6243	19.7589	0.96306	0.0:1.0:0.0:0.0	.	.	.	.	X	126;145;97	.	ENSP00000298571:Q97X	Q	+	1	0	LOH12CR1	12509819	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.440000	0.80464	2.662000	0.90505	0.557000	0.71058	CAG		0.527	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			31	159	0	0	0	1	0	31	159				
PHLDB2	90102	broad.mit.edu	37	3	111637961	111637961	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:111637961G>A	ENST00000431670.2	+	4	2173	c.1762G>A	c.(1762-1764)Gct>Act	p.A588T	PHLDB2_ENST00000393925.3_Missense_Mutation_p.A588T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A588T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.A588T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A615T|PHLDB2_ENST00000495180.1_Missense_Mutation_p.A174T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	588						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCAGGAGTTGGCTGCAATGGA	0.408																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1762-1764)Gct>Act		pleckstrin homology-like domain, family B, member 2							143.0	147.0	145.0					3																	111637961		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111637961G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1762G>A	3.37:g.111637961G>A	ENSP00000405405:p.Ala588Thr		Somatic				PHLDB2_ENST00000481953.1_Missense_Mutation_p.A588T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A588T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A588T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A615T|PHLDB2_ENST00000495180.1_Missense_Mutation_p.A174T	p.A588T	NM_001134438.1	NP_001127910.1	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			4	2173	+			588					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1762G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392149	0.25118	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.31769	1.48;1.5;1.49;1.49;1.5;1.49;1.57	5.55	4.66	0.58398	.	0.331135	0.34178	N	0.004194	T	0.15478	0.0373	N	0.14661	0.345	0.25390	N	0.988533	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.22730	-1.0208	10	0.14252	T	0.57	.	7.959	0.30060	0.1915:0.0:0.8085:0.0	.	174;588;588;615	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	T	615;615;588;588;588;588;588;174	ENSP00000377500:A615T;ENSP00000405405:A588T;ENSP00000405292:A588T;ENSP00000418296:A588T;ENSP00000377502:A588T;ENSP00000418319:A588T;ENSP00000420303:A174T	ENSP00000352764:A615T	A	+	1	0	PHLDB2	113120651	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	2.642000	0.46596	1.424000	0.47217	0.655000	0.94253	GCT		0.408	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		4	184	0	0	0	1	0	4	184				
PCDH12	51294	broad.mit.edu	37	5	141334913	141334913	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141334913G>A	ENST00000231484.3	-	1	3714	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	835					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTCCGCCGGTGCTCCCTG	0.637																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2503-2505)cCg>cTg		protocadherin 12							73.0	68.0	70.0					5																	141334913		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334913G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2504C>T	5.37:g.141334913G>A	ENSP00000231484:p.Pro835Leu		Somatic					p.P835L	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3714	-		all_hematologic(541;0.0999)	835					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2504C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.061320	0.00386	.	.	ENSG00000113555	ENST00000231484	T	0.48836	0.8	5.07	-1.64	0.08318	.	1.065370	0.07223	N	0.861158	T	0.12987	0.0315	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18304	-1.0341	10	0.18276	T	0.48	.	2.7944	0.05397	0.3976:0.0:0.2782:0.3241	.	835	Q9NPG4	PCD12_HUMAN	L	835	ENSP00000231484:P835L	ENSP00000231484:P835L	P	-	2	0	PCDH12	141315097	0.009000	0.17119	0.002000	0.10522	0.023000	0.10783	0.652000	0.24888	-0.156000	0.11079	-0.258000	0.10820	CCG		0.637	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	358	0	0	0	1	0	5	358				
PLEC	5339	broad.mit.edu	37	8	144999370	144999370	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:144999370G>A	ENST00000322810.4	-	31	5307	c.5138C>T	c.(5137-5139)gCg>gTg	p.A1713V	PLEC_ENST00000345136.3_Missense_Mutation_p.A1576V|PLEC_ENST00000527096.1_Missense_Mutation_p.A1599V|PLEC_ENST00000354589.3_Missense_Mutation_p.A1576V|PLEC_ENST00000354958.2_Missense_Mutation_p.A1554V|PLEC_ENST00000436759.2_Missense_Mutation_p.A1603V|PLEC_ENST00000356346.3_Missense_Mutation_p.A1562V|PLEC_ENST00000357649.2_Missense_Mutation_p.A1580V|PLEC_ENST00000398774.2_Missense_Mutation_p.A1544V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1713	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCAGCTCCGCCTCTGCACT	0.716																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(5137-5139)gCg>gTg		plectin							6.0	7.0	6.0					8																	144999370		2017	3960	5977	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144999370G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5138C>T	8.37:g.144999370G>A	ENSP00000323856:p.Ala1713Val		Somatic				PLEC_ENST00000527096.1_Missense_Mutation_p.A1599V|PLEC_ENST00000357649.2_Missense_Mutation_p.A1580V|PLEC_ENST00000356346.3_Missense_Mutation_p.A1562V|PLEC_ENST00000354958.2_Missense_Mutation_p.A1554V|PLEC_ENST00000436759.2_Missense_Mutation_p.A1603V|PLEC_ENST00000345136.3_Missense_Mutation_p.A1576V|PLEC_ENST00000398774.2_Missense_Mutation_p.A1544V|PLEC_ENST00000354589.3_Missense_Mutation_p.A1576V	p.A1713V	NM_201380.2	NP_958782.1	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			31	5307	-			1713			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.5138C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.682	0.310351	0.10733	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76968	-1.03;-1.03;-1.06;-1.06;-1.0;-1.03;-1.03;-1.03;-1.03	4.71	-8.86	0.00795	.	0.581273	0.15121	N	0.279385	T	0.64670	0.2619	N	0.25426	0.745	0.09310	N	1	B;B;B;B;B;B;P;B	0.47191	0.001;0.001;0.001;0.0;0.001;0.001;0.891;0.001	B;B;B;B;B;B;P;B	0.46110	0.002;0.002;0.002;0.001;0.002;0.002;0.504;0.002	T	0.64356	-0.6427	10	0.23891	T	0.37	.	17.4194	0.87511	0.3173:0.0:0.6827:0.0	.	1603;1562;1554;1713;1544;1576;1580;1576	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	1576;1580;1576;1544;1713;1554;1562;1603;1599	ENSP00000344848:A1576V;ENSP00000350277:A1580V;ENSP00000346602:A1576V;ENSP00000381756:A1544V;ENSP00000323856:A1713V;ENSP00000347044:A1554V;ENSP00000348702:A1562V;ENSP00000388180:A1603V;ENSP00000434583:A1599V	ENSP00000323856:A1713V	A	-	2	0	PLEC	145071358	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.328000	0.07945	-1.940000	0.01043	-1.366000	0.01203	GCG		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		2	2	0	0	0	1	0	2	2				
CR1L	1379	broad.mit.edu	37	1	207851541	207851541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207851541A>T	ENST00000508064.2	+	3	337		c.e3-1		CR1L_ENST00000530905.1_Splice_Site	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTTTCCTGTAGGTAAATCAT	0.378																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e3-1		complement component (3b/4b) receptor 1-like							127.0	115.0	118.0					1																	207851541		1866	4113	5979	SO:0001630	splice_region_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207851541A>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.278-1A>T	1.37:g.207851541A>T			Somatic				CR1L_ENST00000530905.1_Splice_Site		NM_175710.1	NP_783641.1	WXS	Illumina GAIIx	Phase_I	Q2VPA4	CR1L_HUMAN			3	337	+								Q32MC9|Q8NEU7	Splice_Site	SNP	ENST00000508064.2	37		CCDS44310.1	.	.	.	.	.	.	.	.	.	.	-	9.393	1.076070	0.20227	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1928	0.25834	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR1L	205918164	0.968000	0.33430	0.378000	0.26068	0.051000	0.14879	1.944000	0.40263	1.231000	0.43661	0.164000	0.16699	.		0.378	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	Intron	7	259	0	0	0	1	0	7	259				
C9orf43	257169	broad.mit.edu	37	9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	rs145109883	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(1012-1014)Gtt>Att		chromosome 9 open reading frame 43		G	ILE/VAL	0,4406		0,0,2203	143.0	118.0	126.0		1012	-3.6	0.0	9	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	338/462	116187992	1,13005	2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187992G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1012G>A	9.37:g.116187992G>A	ENSP00000288462:p.Val338Ile		Somatic				C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	p.V338I	NM_152786.1	NP_689999.1	WXS	Illumina GAIIx	Phase_I	Q8TAL5	CI043_HUMAN			11	1458	+			338						Missense_Mutation	SNP	ENST00000288462.4	37	c.1012G>A	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544781	0.13312	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.47177	0.85;0.85	3.98	-3.64	0.04515	.	2.072450	0.02239	N	0.065609	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.08186	-1.0734	10	0.15499	T	0.54	2.022	5.4062	0.16323	0.5812:0.0:0.2679:0.1509	.	338	Q8TAL5	CI043_HUMAN	I	338	ENSP00000363280:V338I;ENSP00000288462:V338I	ENSP00000288462:V338I	V	+	1	0	C9orf43	115227813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.823000	0.04301	-0.290000	0.09829	GTT		0.478	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		5	631	0	0	0	1	0	5	631				
ZBTB11	27107	broad.mit.edu	37	3	101378874	101378874	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:101378874T>A	ENST00000312938.4	-	6	2381		c.e6-2		Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTTACACAACTAAAAGAAAAA	0.323																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e6-2		zinc finger and BTB domain containing 11							52.0	54.0	53.0					3																	101378874		2203	4300	6503	SO:0001630	splice_region_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378874T>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1801-2A>T	3.37:g.101378874T>A			Somatic						NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	O95625	ZBT11_HUMAN			6	2381	-								Q2NKP9	Splice_Site	SNP	ENST00000312938.4	37		CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062740	0.76187	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4052	0.83662	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBTB11	102861564	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	7.162000	0.77515	2.279000	0.76181	0.402000	0.26972	.		0.323	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	Intron	5	94	0	0	0	1	0	5	94				
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A	rs569393753		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557			T	HMGA2	lipoma								G|||	1	0.000199681	0.0	0.0014	5008	,	,		15312	0.0		0.0	False		,,,				2504	0.0					ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(571-573)tCg>tTg		lipoma HMGIC fusion partner							107.0	89.0	95.0					13																	39918104		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:39918104G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.572C>T	13.37:g.39918104G>A	ENSP00000368908:p.Ser191Leu		Somatic					p.S191L	NM_005780.2	NP_005771.1	WXS	Illumina GAIIx	Phase_I	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	4	1034	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	191					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.572C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281482	0.80692	.	.	ENSG00000183722	ENST00000379589	T	0.76448	-1.02	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000032	T	0.62756	0.2454	N	0.19112	0.55	0.51767	D	0.999931	P	0.43662	0.814	B	0.34385	0.181	T	0.64474	-0.6399	9	.	.	.	.	17.8177	0.88640	0.0:0.0:1.0:0.0	.	191	Q9Y693	LHFP_HUMAN	L	191	ENSP00000368908:S191L	.	S	-	2	0	LHFP	38816104	1.000000	0.71417	0.940000	0.37924	0.793000	0.44817	9.363000	0.97131	2.459000	0.83118	0.557000	0.71058	TCG		0.557	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		6	448	0	0	0	1	0	6	448				
KIF26A	26153	broad.mit.edu	37	14	104640149	104640149	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:104640149G>T	ENST00000423312.2	+	10	1974	c.1974G>T	c.(1972-1974)tcG>tcT	p.S658S	KIF26A_ENST00000315264.7_Silent_p.S519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	658	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTCCCTGTCGGCCCTGGGCA	0.706																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1555-1557)tcG>tcT		kinesin family member 26A							27.0	38.0	34.0					14																	104640149		2029	4171	6200	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104640149G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1974G>T	14.37:g.104640149G>T			Somatic				KIF26A_ENST00000423312.2_Silent_p.S658S	p.S519S			WXS	Illumina GAIIx	Phase_I	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	9	1935	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	658			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.1557G>T	CCDS45171.1																																																																																				0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			2	3	1	0	1	1	1	2	3				
ANKRD34A	284615	broad.mit.edu	37	1	145474166	145474166	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:145474166C>G	ENST00000323397.4	+	4	2131	c.838C>G	c.(838-840)Ctg>Gtg	p.L280V	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	280	Pro-rich.					cytoplasm (GO:0005737)		p.L280V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCCTGACCCTGACCGGTCG	0.662																																						ENST00000323397.4																			1	Substitution - Missense(1)	p.L280V(1)	kidney(1)	endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(838-840)Ctg>Gtg		ankyrin repeat domain 34A							35.0	39.0	38.0					1																	145474166		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145474166C>G	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.838C>G	1.37:g.145474166C>G	ENSP00000314103:p.Leu280Val		Somatic					p.L280V	NM_001039888.2	NP_001034977.1	WXS	Illumina GAIIx	Phase_I	Q69YU3	AN34A_HUMAN			4	2131	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		280			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.838C>G	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517854	0.27211	.	.	ENSG00000181039	ENST00000323397	T	0.73897	-0.79	5.11	4.17	0.49024	.	0.455920	0.19446	N	0.114055	T	0.44519	0.1297	L	0.31926	0.97	0.29964	N	0.8191	B	0.02656	0.0	B	0.01281	0.0	T	0.40646	-0.9552	10	0.52906	T	0.07	-5.4102	8.4066	0.32619	0.1764:0.6533:0.1703:0.0	.	280	Q69YU3	AN34A_HUMAN	V	280	ENSP00000314103:L280V	ENSP00000314103:L280V	L	+	1	2	ANKRD34A	144185523	0.117000	0.22190	1.000000	0.80357	0.985000	0.73830	0.447000	0.21710	1.345000	0.45676	0.579000	0.79373	CTG		0.662	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			56	58	0	0	0	1	0	56	58				
PDCD6IP	10015	broad.mit.edu	37	3	33906764	33906764	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:33906764T>C	ENST00000307296.3	+	17	2651	c.2274T>C	c.(2272-2274)ccT>ccC	p.P758P	PDCD6IP_ENST00000457054.2_Silent_p.P763P			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	758	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CAGCCAGGCCTCCACCACCTG	0.483																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(2272-2274)ccT>ccC		programmed cell death 6 interacting protein							40.0	43.0	42.0					3																	33906764		2203	4300	6503	SO:0001819	synonymous_variant	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33906764T>C	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2274T>C	3.37:g.33906764T>C			Somatic				PDCD6IP_ENST00000457054.2_Silent_p.P763P	p.P758P			WXS	Illumina GAIIx	Phase_I	Q8WUM4	PDC6I_HUMAN			17	2651	+			758			Interaction with EIAV p9.|Pro-rich.|Self-association.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	37	c.2274T>C	CCDS2660.1																																																																																				0.483	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			4	58	0	0	0	1	0	4	58				
GBA2	57704	broad.mit.edu	37	9	35736669	35736669	+	IGR	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35736669A>G	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Silent_p.G354G|CREB3_ENST00000486056.1_3'UTR|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.G354G(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAAGGGAGGATGGCTTCCTA	0.592											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			1	Substitution - coding silent(1)	p.G354G(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(1060-1062)ggA>ggG		cAMP responsive element binding protein 3							126.0	130.0	128.0					9																	35736669		2203	4300	6503	SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736669A>G	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736669A>G			Somatic	OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.G354G	NM_006368.4	NP_006359.3	WXS	Illumina GAIIx	Phase_I	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1500	+	all_epithelial(49;0.167)		378			Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.1062A>G	CCDS6589.1																																																																																				0.592	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		312	504	0	0	0	1	0	312	504				
ALB	213	broad.mit.edu	37	4	74274362	74274362	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:74274362T>C	ENST00000295897.4	+	4	411	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	ALB_ENST00000503124.1_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.Y108H	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCGTGAAACCTATGGTGAAAT	0.428																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(322-324)Tat>Cat		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						91.0	84.0	86.0					4																	74274362		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274362T>C	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.322T>C	4.37:g.74274362T>C	ENSP00000295897:p.Tyr108His		Somatic				ALB_ENST00000509063.1_Missense_Mutation_p.Y108H|ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron	p.Y108H	NM_000477.5	NP_000468.1	WXS	Illumina GAIIx	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	411	+	Breast(15;0.00102)		108			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.322T>C	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061838	0.55432	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.74002	-0.8;-0.8;-0.8	6.04	6.04	0.98038	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.075935	0.53938	D	0.000045	D	0.85164	0.5634	M	0.69523	2.12	0.80722	D	1	D;D	0.57899	0.968;0.981	D;D	0.71656	0.955;0.974	D	0.86591	0.1860	10	0.87932	D	0	-36.1199	15.4125	0.74937	0.0:0.0:0.0:1.0	.	108;108	A6NBZ8;P02768	.;ALBU_HUMAN	H	110;108;108;108;117	ENSP00000392541:Y110H;ENSP00000295897:Y108H;ENSP00000422784:Y108H	ENSP00000295897:Y108H	Y	+	1	0	ALB	74493226	0.994000	0.37717	0.684000	0.30055	0.171000	0.22731	3.370000	0.52372	2.317000	0.78254	0.460000	0.39030	TAT		0.428	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		3	123	0	0	0	1	0	3	123				
MEP1A	4224	broad.mit.edu	37	6	46787403	46787403	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:46787403A>G	ENST00000230588.4	+	7	527	c.518A>G	c.(517-519)gAt>gGt	p.D173G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	173	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACGGACCGGGATGATTATGTG	0.473																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(517-519)gAt>gGt		meprin A, alpha (PABA peptide hydrolase)							295.0	275.0	282.0					6																	46787403		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46787403A>G		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.518A>G	6.37:g.46787403A>G	ENSP00000230588:p.Asp173Gly		Somatic					p.D173G	NM_005588.2	NP_005579.2	WXS	Illumina GAIIx	Phase_I	Q16819	MEP1A_HUMAN	Lung(136;0.192)		7	527	+			173			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.518A>G	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.944866	0.92593	.	.	ENSG00000112818	ENST00000230588	T	0.72282	-0.64	5.81	5.81	0.92471	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	H	0.99117	4.435	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.948	D	0.94006	0.7280	10	0.87932	D	0	-25.6281	16.1677	0.81782	1.0:0.0:0.0:0.0	.	201;173	B7ZL91;Q16819	.;MEP1A_HUMAN	G	173	ENSP00000230588:D173G	ENSP00000230588:D173G	D	+	2	0	MEP1A	46895362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.218000	0.71995	0.528000	0.53228	GAT		0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		8	1089	0	0	0	1	0	8	1089				
MUC17	140453	broad.mit.edu	37	7	100680546	100680546	+	Missense_Mutation	SNP	T	T	C	rs200153409	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100680546T>C	ENST00000306151.4	+	3	5913	c.5849T>C	c.(5848-5850)cTt>cCt	p.L1950P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1950	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCTTGCTGACACC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5848-5850)cTt>cCt		mucin 17, cell surface associated							246.0	244.0	245.0					7																	100680546		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680546T>C	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.5849T>C	7.37:g.100680546T>C	ENSP00000302716:p.Leu1950Pro		Somatic					p.L1950P	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	5913	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1950			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5849T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.168291	0.01660	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.932	-0.0252	0.13936	.	.	.	.	.	T	0.01387	0.0045	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	9	0.24483	T	0.36	.	3.944	0.09339	0.0:0.5194:0.0:0.4806	.	1950	Q685J3	MUC17_HUMAN	P	1950	ENSP00000302716:L1950P	ENSP00000302716:L1950P	L	+	2	0	MUC17	100467266	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.235000	0.09016	0.002000	0.14630	-1.990000	0.00449	CTT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	913	0	0	0	1	0	8	913				
KIAA0319	9856	broad.mit.edu	37	6	24554859	24554859	+	Splice_Site	SNP	T	T	C	rs529548247		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:24554859T>C	ENST00000378214.3	-	19	3382	c.2858A>G	c.(2857-2859)gAg>gGg	p.E953G	KIAA0319_ENST00000543707.1_Splice_Site_p.E953G|KIAA0319_ENST00000535378.1_Splice_Site_p.E944G|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Splice_Site_p.E908G	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	953					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TATACTCCACTCTGAAACACA	0.378																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.e20-1		KIAA0319							143.0	128.0	133.0					6																	24554859		2203	4300	6503	SO:0001630	splice_region_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24554859T>C	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2858-1A>G	6.37:g.24554859T>C			Somatic				KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Splice_Site_p.E953_splice|KIAA0319_ENST00000378214.3_Splice_Site_p.E953_splice|KIAA0319_ENST00000430948.2_Splice_Site_p.E908_splice	p.E944_splice	NM_001168374.1	NP_001161846.1	WXS	Illumina GAIIx	Phase_I	Q5VV43	K0319_HUMAN			20	3473	-			953					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Splice_Site	SNP	ENST00000378214.3	37	c.2830_splice	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081758	0.55861	.	.	ENSG00000137261	ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T	0.10668	2.85;2.86;2.85;2.85	3.81	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	M	0.76002	2.32	0.48341	D	0.999632	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.01121	-1.1445	10	0.87932	D	0	.	9.1525	0.36971	0.0:0.0883:0.0:0.9117	.	944;953	Q5VV43-2;Q5VV43	.;K0319_HUMAN	G	944;908;953;953	ENSP00000442403:E944G;ENSP00000401086:E908G;ENSP00000367459:E953G;ENSP00000437656:E953G	ENSP00000367459:E953G	E	-	2	0	KIAA0319	24662838	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	5.274000	0.65569	0.640000	0.30582	-0.256000	0.11100	GAG		0.378	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	Missense_Mutation	7	301	0	0	0	1	0	7	301				
KLF8	11279	broad.mit.edu	37	X	56276690	56276690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:56276690G>T	ENST00000468660.1	+	2	322	c.34G>T	c.(34-36)Gag>Tag	p.E12*	KLF8_ENST00000374928.3_Nonsense_Mutation_p.E12*	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AAACAACTTGGAGGTCCAACT	0.343																																						ENST00000374928.3																			0				kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						c.(34-36)Gag>Tag		Kruppel-like factor 8							112.0	110.0	110.0					X																	56276690		2203	4300	6503	SO:0001587	stop_gained	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56276690G>T	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.34G>T	X.37:g.56276690G>T	ENSP00000417303:p.Glu12*		Somatic				KLF8_ENST00000468660.1_Nonsense_Mutation_p.E12*	p.E12*	NM_001159296.1	NP_001152768.1	WXS	Illumina GAIIx	Phase_I	O95600	KLF8_HUMAN			3	520	+			12					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Nonsense_Mutation	SNP	ENST00000468660.1	37	c.34G>T	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709923	0.68730	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	.	.	.	3.03	-0.916	0.10489	.	1.058370	0.07490	N	0.905451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.3315	0.07085	0.414:0.2087:0.3773:0.0	.	.	.	.	X	12	.	ENSP00000431911:E12X	E	+	1	0	KLF8	56293415	0.733000	0.28132	0.294000	0.24946	0.898000	0.52572	0.323000	0.19593	-0.393000	0.07739	-0.978000	0.02582	GAG		0.343	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		7	154	1	0	0.0381472	1	0.0394976	7	154				
SMCR8	140775	broad.mit.edu	37	17	18221057	18221057	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18221057C>T	ENST00000406438.3	+	1	2434	c.1954C>T	c.(1954-1956)Ctg>Ttg	p.L652L	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	652						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CGCTTATGAGCTGGACCCGAG	0.562																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1954-1956)Ctg>Ttg		Smith-Magenis syndrome chromosome region, candidate 8							71.0	69.0	70.0					17																	18221057		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18221057C>T	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1954C>T	17.37:g.18221057C>T			Somatic					p.L652L	NM_144775.2	NP_658988.2	WXS	Illumina GAIIx	Phase_I	Q8TEV9	SMCR8_HUMAN			1	2434	+			652					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.1954C>T	CCDS11195.2																																																																																				0.562	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		9	773	0	0	0	1	0	9	773				
UNC13C	440279	broad.mit.edu	37	15	54305637	54305637	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:54305637A>G	ENST00000260323.11	+	1	537	c.537A>G	c.(535-537)ggA>ggG	p.G179G	UNC13C_ENST00000537900.1_Silent_p.G179G|UNC13C_ENST00000545554.1_Silent_p.G179G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	179					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAAACTGGGAGCTTTACGAA	0.453																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(535-537)ggA>ggG		unc-13 homolog C (C. elegans)							110.0	108.0	109.0					15																	54305637		1920	4113	6033	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305637A>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.537A>G	15.37:g.54305637A>G			Somatic				UNC13C_ENST00000537900.1_Silent_p.G179G|UNC13C_ENST00000260323.11_Silent_p.G179G	p.G179G			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	537	+			179					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.537A>G	CCDS45264.1																																																																																				0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	723	0	0	0	1	0	6	723				
SND1	27044	broad.mit.edu	37	7	127334966	127334966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:127334966C>T	ENST00000354725.3	+	3	507	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	105	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.Q105K(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAAGACTCCCCAGGGGCGAGA	0.453																																						ENST00000354725.3																			1	Substitution - Missense(1)	p.Q105K(1)	lung(1)	central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(313-315)Cag>Tag		staphylococcal nuclease and tudor domain containing 1							89.0	88.0	89.0					7																	127334966		2203	4300	6503	SO:0001587	stop_gained	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127334966C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.313C>T	7.37:g.127334966C>T	ENSP00000346762:p.Gln105*		Somatic					p.Q105*	NM_014390.2	NP_055205.2	WXS	Illumina GAIIx	Phase_I	Q7KZF4	SND1_HUMAN			3	507	+			105			TNase-like 1.		Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	c.313C>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	37	6.397175	0.97533	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	.	.	.	5.64	5.64	0.86602	.	0.120646	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-22.628	17.202	0.86908	0.0:1.0:0.0:0.0	.	.	.	.	X	105;95	.	ENSP00000346762:Q105X	Q	+	1	0	SND1	127122202	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	2.891000	0.48617	2.676000	0.91093	0.563000	0.77884	CAG		0.453	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		8	465	0	0	0	1	0	8	465				
LRP5	4041	broad.mit.edu	37	11	68133120	68133120	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:68133120C>T	ENST00000294304.7	+	5	1071	c.965C>T	c.(964-966)gCc>gTc	p.A322V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	322	EGF-like 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACACATGCGCCTGCCCCACG	0.682																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(964-966)gCc>gTc		low density lipoprotein receptor-related protein 5							59.0	59.0	59.0					11																	68133120		2200	4293	6493	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68133120C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.965C>T	11.37:g.68133120C>T	ENSP00000294304:p.Ala322Val		Somatic					p.A322V	NM_002335.2	NP_002326.2	WXS	Illumina GAIIx	Phase_I	O75197	LRP5_HUMAN			5	1071	+			322			EGF-like 1.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.965C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092064	0.36952	.	.	ENSG00000162337	ENST00000294304	D	0.97138	-4.26	3.49	3.49	0.39957	Epidermal growth factor-like (1);	0.150404	0.29152	U	0.012994	D	0.95831	0.8643	M	0.73598	2.24	0.51012	D	0.999905	B	0.25007	0.116	B	0.26969	0.075	D	0.95521	0.8594	10	0.87932	D	0	.	12.3388	0.55083	0.1699:0.8301:0.0:0.0	.	322	O75197	LRP5_HUMAN	V	322	ENSP00000294304:A322V	ENSP00000294304:A322V	A	+	2	0	LRP5	67889696	1.000000	0.71417	0.996000	0.52242	0.152000	0.21847	4.505000	0.60421	2.266000	0.75297	0.455000	0.32223	GCC		0.682	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	176	0	0	0	1	0	4	176				
BICD2	23299	broad.mit.edu	37	9	95481510	95481510	+	Missense_Mutation	SNP	G	G	A	rs142203302		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:95481510G>A	ENST00000375512.3	-	5	1484	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	BICD2_ENST00000356884.6_Missense_Mutation_p.R473C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	473					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCTCATAGCGGCCCTTCTCC	0.687																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1417-1419)Cgc>Tgc		bicaudal D homolog 2 (Drosophila)		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	56.0	54.0	55.0		1417,1417	4.1	0.9	9	dbSNP_134	55	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BICD2	NM_001003800.1,NM_015250.3	180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	473/856,473/825	95481510	1,13003	2203	4299	6502	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481510G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1417C>T	9.37:g.95481510G>A	ENSP00000364662:p.Arg473Cys		Somatic				BICD2_ENST00000375512.3_Missense_Mutation_p.R473C	p.R473C	NM_001003800.1	NP_001003800.1	WXS	Illumina GAIIx	Phase_I	Q8TD16	BICD2_HUMAN			5	1484	-			473					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1417C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710427	0.68730	0.0	1.16E-4	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.51071	0.72;0.72	5.11	4.14	0.48551	.	0.167648	0.49916	D	0.000128	T	0.62196	0.2408	M	0.69823	2.125	0.53005	D	0.999965	D;D	0.76494	0.999;0.999	P;D	0.66084	0.903;0.941	T	0.62181	-0.6908	10	0.46703	T	0.11	-20.3597	10.3689	0.44042	0.0:0.0:0.69:0.31	.	473;473	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	473	ENSP00000349351:R473C;ENSP00000364662:R473C	ENSP00000349351:R473C	R	-	1	0	BICD2	94521331	0.997000	0.39634	0.888000	0.34837	0.900000	0.52787	4.586000	0.60984	2.548000	0.85928	0.561000	0.74099	CGC		0.687	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		4	86	0	0	0	1	0	4	86				
PPP4R4	57718	broad.mit.edu	37	14	94716560	94716560	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:94716560C>A	ENST00000304338.3	+	15	1817	c.1663C>A	c.(1663-1665)Cgt>Agt	p.R555S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	555					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CATTTTTCTGCGTTATAATCG	0.338																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(1663-1665)Cgt>Agt		protein phosphatase 4, regulatory subunit 4							135.0	121.0	126.0					14																	94716560		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94716560C>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1663C>A	14.37:g.94716560C>A	ENSP00000305924:p.Arg555Ser		Somatic					p.R555S	NM_058237.1	NP_478144.1	WXS	Illumina GAIIx	Phase_I	Q6NUP7	PP4R4_HUMAN			15	1817	+			555					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.1663C>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387497	0.82902	.	.	ENSG00000119698	ENST00000304338	T	0.33654	1.4	5.71	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.051618	0.64402	D	0.000001	T	0.62307	0.2417	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66712	-0.5854	10	0.72032	D	0.01	-11.9077	15.4918	0.75611	0.1392:0.8608:0.0:0.0	.	555	Q6NUP7	PP4R4_HUMAN	S	555	ENSP00000305924:R555S	ENSP00000305924:R555S	R	+	1	0	PPP4R4	93786313	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.931000	0.63469	2.692000	0.91855	0.455000	0.32223	CGT		0.338	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		4	76	1	0	1	1	1	4	76				
CHAT	1103	broad.mit.edu	37	10	50828610	50828610	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:50828610G>A	ENST00000337653.2	+	4	802	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	CHAT_ENST00000395559.2_Missense_Mutation_p.A99T|CHAT_ENST00000339797.1_Missense_Mutation_p.A99T|CHAT_ENST00000351556.3_Missense_Mutation_p.A99T|CHAT_ENST00000395562.2_Missense_Mutation_p.A135T|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Missense_Mutation_p.A99T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	217					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CTCCAGCCCTGCCGTGATCTT	0.612																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(403-405)Gcc>Acc		choline O-acetyltransferase	Choline(DB00122)						122.0	95.0	104.0					10																	50828610		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50828610G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.649G>A	10.37:g.50828610G>A	ENSP00000337103:p.Ala217Thr		Somatic				CHAT_ENST00000395559.2_Missense_Mutation_p.A99T|CHAT_ENST00000455728.2_Missense_Mutation_p.A99T|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Missense_Mutation_p.A99T|CHAT_ENST00000351556.3_Missense_Mutation_p.A99T|CHAT_ENST00000337653.2_Missense_Mutation_p.A217T	p.A135T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	WXS	Illumina GAIIx	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	5	872	+		all_neural(218;0.107)	217					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.403G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603630	0.96626	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.57	5.57	0.84162	.	0.107337	0.64402	N	0.000006	D	0.88987	0.6587	M	0.67517	2.055	0.54753	D	0.999981	D;D	0.71674	0.988;0.998	P;D	0.71414	0.764;0.973	D	0.89030	0.3441	10	0.59425	D	0.04	-13.2772	19.5425	0.95280	0.0:0.0:1.0:0.0	.	99;217	F8W8I2;P28329	.;CLAT_HUMAN	T	99;99;99;217;135;99	ENSP00000343486:A99T;ENSP00000345878:A99T;ENSP00000378926:A99T;ENSP00000337103:A217T;ENSP00000378929:A135T;ENSP00000390521:A99T	ENSP00000337103:A217T	A	+	1	0	CHAT	50498616	1.000000	0.71417	0.957000	0.39632	0.730000	0.41778	9.729000	0.98795	2.619000	0.88677	0.561000	0.74099	GCC		0.612	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		5	345	0	0	0	1	0	5	345				
GATAD2A	54815	broad.mit.edu	37	19	19606631	19606631	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:19606631C>A	ENST00000360315.3	+	6	1005	c.693C>A	c.(691-693)tcC>tcA	p.S231S	GATAD2A_ENST00000252577.5_Silent_p.S231S|GATAD2A_ENST00000404158.1_Silent_p.S231S|GATAD2A_ENST00000429563.2_Silent_p.S58S|GATAD2A_ENST00000358713.3_Silent_p.S231S|GATAD2A_ENST00000537887.1_Intron	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	231					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGCAGGCGTCCTCGAAGCTGG	0.647																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(691-693)tcC>tcA		GATA zinc finger domain containing 2A							54.0	48.0	50.0					19																	19606631		2203	4300	6503	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19606631C>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.693C>A	19.37:g.19606631C>A			Somatic				GATAD2A_ENST00000252577.5_Silent_p.S231S|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Silent_p.S231S|GATAD2A_ENST00000429563.2_Silent_p.S58S|GATAD2A_ENST00000360315.3_Silent_p.S231S	p.S231S			WXS	Illumina GAIIx	Phase_I	Q86YP4	P66A_HUMAN			8	1111	+			231					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.693C>A	CCDS12402.2																																																																																				0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		4	68	1	0	0.150653	1	0.154618	4	68				
DHX16	8449	broad.mit.edu	37	6	30623271	30623271	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30623271G>A	ENST00000376442.3	-	17	2797	c.2602C>T	c.(2602-2604)Cgt>Tgt	p.R868C	DHX16_ENST00000376437.5_Missense_Mutation_p.R387C	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	868					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AAGTTGACACGGGCATTGTCA	0.537																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(2602-2604)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box polypeptide 16							148.0	140.0	143.0					6																	30623271		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30623271G>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2602C>T	6.37:g.30623271G>A	ENSP00000365625:p.Arg868Cys		Somatic				DHX16_ENST00000376437.5_Missense_Mutation_p.R387C	p.R868C	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	WXS	Illumina GAIIx	Phase_I	O60231	DHX16_HUMAN			17	2797	-			868					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.2602C>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833827	0.71258	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.33654	1.4;1.4	5.92	5.92	0.95590	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	H	0.97415	4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.99	T	0.81986	-0.0681	10	0.87932	D	0	.	19.0921	0.93231	0.0:0.0:1.0:0.0	.	808;868;387	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	C	868;387	ENSP00000365625:R868C;ENSP00000365620:R387C	ENSP00000365620:R387C	R	-	1	0	DHX16	30731250	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	3.373000	0.52394	2.813000	0.96785	0.561000	0.74099	CGT		0.537	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		6	928	0	0	0	1	0	6	928				
TPM1	7168	broad.mit.edu	37	15	63354948	63354948	+	Intron	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:63354948C>T	ENST00000403994.3	+	8	852				TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000560959.1_Silent_p.C256C|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000404484.4_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CGCTCCTTTGCACTTGCACAT	0.423																																						ENST00000560959.1																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(766-768)tgC>tgT		tropomyosin 1 (alpha)																																				SO:0001627	intron_variant	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63354948C>T	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.772+104C>T	15.37:g.63354948C>T			Somatic				TPM1_ENST00000403994.3_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559397.1_Intron	p.C256C			WXS	Illumina GAIIx	Phase_I	P09493	TPM1_HUMAN			7	782	+			0					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Silent	SNP	ENST00000403994.3	37	c.768C>T	CCDS45273.1																																																																																				0.423	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		20	8	0	0	0	1	0	20	8				
XPNPEP2	7512	broad.mit.edu	37	X	128887221	128887221	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:128887221C>T	ENST00000371106.3	+	11	1296	c.1104C>T	c.(1102-1104)agC>agT	p.S368S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	368						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCAAGGCCAGCCACGTAAGTC	0.542																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1102-1104)agC>agT		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							142.0	110.0	121.0					X																	128887221		2203	4299	6502	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887221C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1104C>T	X.37:g.128887221C>T			Somatic					p.S368S	NM_003399.5	NP_003390.4	WXS	Illumina GAIIx	Phase_I	O43895	XPP2_HUMAN			11	1296	+			368					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1104C>T	CCDS14613.1																																																																																				0.542	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		4	211	0	0	0	1	0	4	211				
SPINT2	10653	broad.mit.edu	37	19	38774375	38774375	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:38774375A>G	ENST00000301244.7	+	2	650	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.D22G	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	72	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGGGCTGTGACGGAAACAGC	0.522																																						ENST00000301244.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(214-216)gAc>gGc		serine peptidase inhibitor, Kunitz type, 2							133.0	102.0	113.0					19																	38774375		2203	4300	6503	SO:0001583	missense	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38774375A>G	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.215A>G	19.37:g.38774375A>G	ENSP00000301244:p.Asp72Gly		Somatic				SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.D22G	p.D72G	NM_021102.3	NP_066925.1	WXS	Illumina GAIIx	Phase_I	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	650	+	all_cancers(60;6.83e-07)		72			BPTI/Kunitz inhibitor 1.		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	c.215A>G	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	A	2.434	-0.330082	0.05314	.	.	ENSG00000167642	ENST00000301244	T	0.53640	0.61	5.47	-4.83	0.03161	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.659130	0.03261	N	0.183200	T	0.16041	0.0386	N	0.00182	-1.905	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.28839	-1.0031	10	0.23302	T	0.38	.	15.101	0.72276	0.3081:0.0:0.6919:0.0	.	72	O43291	SPIT2_HUMAN	G	72	ENSP00000301244:D72G	ENSP00000301244:D72G	D	+	2	0	SPINT2	43466215	0.070000	0.21116	0.000000	0.03702	0.008000	0.06430	0.370000	0.20433	-0.879000	0.04002	-0.475000	0.04921	GAC		0.522	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			6	383	0	0	0	1	0	6	383				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A			Somatic						NM_006540.2	NP_006531.1	WXS	Illumina GAIIx	Phase_I	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	5	226	0	0	0	1	0	5	226				
C2CD5	9847	broad.mit.edu	37	12	22671015	22671015	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:22671015G>A	ENST00000333957.4	-	8	1112	c.857C>T	c.(856-858)cCt>cTt	p.P286L	C2CD5_ENST00000540703.1_5'Flank|C2CD5_ENST00000446597.1_Missense_Mutation_p.P286L|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000542676.1_Missense_Mutation_p.P286L|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000396028.2_Intron	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	286					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										GTTTTTCAGAGGGGTTGAGGG	0.428																																						ENST00000333957.4																			0											c.(856-858)cCt>cTt		C2 calcium-dependent domain containing 5							240.0	229.0	233.0					12																	22671015		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22671015G>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.857C>T	12.37:g.22671015G>A	ENSP00000334229:p.Pro286Leu		Somatic				C2CD5_ENST00000396028.2_Intron|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000542676.1_Missense_Mutation_p.P286L|C2CD5_ENST00000446597.1_Missense_Mutation_p.P286L	p.P286L	NM_014802.1	NP_055617.1	WXS	Illumina GAIIx	Phase_I					8	1112	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.857C>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459223	0.84317	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000542676	T;T;T	0.75154	-0.91;-0.91;-0.91	6.04	6.04	0.98038	.	.	.	.	.	T	0.80989	0.4730	L	0.47716	1.5	0.80722	D	1	D;D	0.63046	0.992;0.979	P;P	0.58210	0.835;0.63	T	0.77159	-0.2690	9	0.35671	T	0.21	-17.11	20.5792	0.99380	0.0:0.0:1.0:0.0	.	286;286	B4DRN7;Q86YS7	.;K0528_HUMAN	L	286	ENSP00000334229:P286L;ENSP00000388756:P286L;ENSP00000441951:P286L	ENSP00000334229:P286L	P	-	2	0	KIAA0528	22562282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.873000	0.98535	0.561000	0.74099	CCT		0.428	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		141	468	0	0	0	1	0	141	468				
USP19	10869	broad.mit.edu	37	3	49154764	49154764	+	Intron	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49154764G>A	ENST00000398888.2	-	5	925				USP19_ENST00000417901.1_Missense_Mutation_p.P213S|USP19_ENST00000398892.3_Missense_Mutation_p.P150S|USP19_ENST00000398896.1_Intron|USP19_ENST00000453664.1_Missense_Mutation_p.P203S|USP19_ENST00000434032.2_Missense_Mutation_p.P213S|USP19_ENST00000398898.2_Missense_Mutation_p.P150S|USP19_ENST00000488993.1_5'UTR	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCAGCCCCGGCACCAGCTCC	0.607																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(607-609)Ccg>Tcg		ubiquitin specific peptidase 19																																				SO:0001627	intron_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49154764G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.606+105C>T	3.37:g.49154764G>A			Somatic				USP19_ENST00000417901.1_Missense_Mutation_p.P213S|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.P150S|USP19_ENST00000398896.1_Intron|USP19_ENST00000398898.2_Missense_Mutation_p.P150S|USP19_ENST00000434032.2_Missense_Mutation_p.P213S	p.P203S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	WXS	Illumina GAIIx	Phase_I	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	925	-			212					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.607C>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618434	0.28801	.	.	ENSG00000172046	ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T	0.28069	2.3;2.37;2.35;2.3;2.37;1.63	5.86	1.85	0.25348	.	.	.	.	.	T	0.16171	0.0389	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.11235	0.0;0.0;0.0;0.004	B;B;B;B	0.11329	0.001;0.001;0.0;0.006	T	0.23119	-1.0197	9	0.48119	T	0.1	0.0335	4.2087	0.10502	0.239:0.0:0.4326:0.3284	.	276;213;203;198	A5PKX8;E9PEG8;E7EN22;O94966-2	.;.;.;.	S	150;213;203;150;213;198;198;10	ENSP00000381872:P150S;ENSP00000395260:P213S;ENSP00000400090:P203S;ENSP00000381867:P150S;ENSP00000401197:P213S;ENSP00000303503:P198S	ENSP00000303503:P198S	P	-	1	0	USP19	49129768	0.000000	0.05858	0.009000	0.14445	0.960000	0.62799	-0.672000	0.05244	0.046000	0.15833	0.650000	0.86243	CCG		0.607	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		4	89	0	0	0	1	0	4	89				
PTP4A2	8073	broad.mit.edu	37	1	32374507	32374507	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32374507T>C	ENST00000602725.1	-	5	867	c.450A>G	c.(448-450)cgA>cgG	p.R150R	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000344035.6_Silent_p.R150R|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000356536.3_Missense_Mutation_p.T82A|PTP4A2_ENST00000457805.2_Silent_p.R119R			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	150					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				GCATCTTAGGTCGGTATTTCT	0.398																																						ENST00000356536.3																			0				kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(244-246)Acc>Gcc		protein tyrosine phosphatase type IVA, member 2							203.0	187.0	192.0					1																	32374507		2203	4300	6503	SO:0001819	synonymous_variant	8073					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr1:32374507T>C	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.450A>G	1.37:g.32374507T>C			Somatic				RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_Silent_p.R150R|PTP4A2_ENST00000344035.6_Silent_p.R150R|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000457805.2_Silent_p.R119R	p.T82A			WXS	Illumina GAIIx	Phase_I	Q12974	TP4A2_HUMAN			4	1237	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	0			Tyrosine-protein phosphatase.		A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	ENST00000602725.1	37	c.244A>G	CCDS348.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284431	0.59867	.	.	ENSG00000184007	ENST00000356536	.	.	.	5.33	4.18	0.49190	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.21897	N	0.999482	B	0.02656	0.0	B	0.04013	0.001	T	0.28490	-1.0042	7	0.87932	D	0	-2.7618	5.2908	0.15725	0.0:0.1492:0.155:0.6958	.	82	Q12974-2	.	A	82	.	ENSP00000348932:T82A	T	-	1	0	PTP4A2	32147094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.557000	0.23454	0.948000	0.37687	0.533000	0.62120	ACC		0.398	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391		10	1541	0	0	0	1	0	10	1541				
PTGR1	22949	broad.mit.edu	37	9	114337124	114337124	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:114337124T>A	ENST00000407693.2	-	8	914		c.e8-2		PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|RP11-16L21.7_ENST00000450154.1_RNA|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000238248.3_Splice_Site	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCCACCTACCTAAACAGATAG	0.368																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.e8-2		prostaglandin reductase 1							83.0	78.0	80.0					9																	114337124		2203	4300	6503	SO:0001630	splice_region_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114337124T>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.652-2A>T	9.37:g.114337124T>A			Somatic				PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000238248.3_Splice_Site|RP11-16L21.7_ENST00000450154.1_RNA|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000538962.1_Splice_Site		NM_001146108.1	NP_001139580.1	WXS	Illumina GAIIx	Phase_I	Q14914	PTGR1_HUMAN			8	914	-								A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Splice_Site	SNP	ENST00000407693.2	37		CCDS6779.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645358	0.67358	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7094	0.57082	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTGR1	113376945	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	6.753000	0.74904	2.151000	0.67156	0.482000	0.46254	.		0.368	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		Intron	5	187	0	0	0	1	0	5	187				
TIGD6	81789	broad.mit.edu	37	5	149374551	149374551	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:149374551C>T	ENST00000296736.3	-	2	2135	c.1361G>A	c.(1360-1362)gGg>gAg	p.G454E	TIGD6_ENST00000515406.2_Missense_Mutation_p.G454E	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	454						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGATACCTCCCCTTCATCTTC	0.443																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(1360-1362)gGg>gAg		tigger transposable element derived 6							146.0	133.0	138.0					5																	149374551		2203	4300	6503	SO:0001583	missense	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149374551C>T	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1361G>A	5.37:g.149374551C>T	ENSP00000296736:p.Gly454Glu		Somatic				TIGD6_ENST00000515406.2_Missense_Mutation_p.G454E	p.G454E	NM_030953.3	NP_112215.1	WXS	Illumina GAIIx	Phase_I	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	2135	-			454					B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	c.1361G>A	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	C	0.517	-0.863795	0.02590	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.12879	2.64;2.64	3.95	-2.1	0.07210	.	1.172930	0.06679	N	0.767639	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40794	-0.9544	10	0.02654	T	1	.	9.8439	0.41015	0.0:0.2324:0.0:0.7676	.	454	Q17RP2	TIGD6_HUMAN	E	454	ENSP00000296736:G454E;ENSP00000425318:G454E	ENSP00000296736:G454E	G	-	2	0	TIGD6	149354744	0.000000	0.05858	0.062000	0.19696	0.934000	0.57294	0.061000	0.14366	-0.320000	0.08640	0.563000	0.77884	GGG		0.443	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		4	436	0	0	0	1	0	4	436				
SYNPO	11346	broad.mit.edu	37	5	150029606	150029606	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150029606C>T	ENST00000394243.1	+	3	2875	c.2501C>T	c.(2500-2502)cCc>cTc	p.P834L	SYNPO_ENST00000307662.4_Missense_Mutation_p.P590L|SYNPO_ENST00000519664.1_Missense_Mutation_p.P590L|SYNPO_ENST00000522122.1_Missense_Mutation_p.P834L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	834	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGCCTCGCCCGCCAAGCCC	0.677																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2500-2502)cCc>cTc		synaptopodin							57.0	66.0	63.0					5																	150029606		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029606C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2501C>T	5.37:g.150029606C>T	ENSP00000377789:p.Pro834Leu		Somatic				SYNPO_ENST00000522122.1_Missense_Mutation_p.P834L|SYNPO_ENST00000307662.4_Missense_Mutation_p.P590L|SYNPO_ENST00000519664.1_Missense_Mutation_p.P590L	p.P834L	NM_001166208.1	NP_001159680.1	WXS	Illumina GAIIx	Phase_I	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2875	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	834			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2501C>T	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639224	0.47153	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.26810	1.71;1.71;1.74	5.3	5.3	0.74995	.	0.121783	0.37530	N	0.002050	T	0.49525	0.1562	L	0.57536	1.79	0.53688	D	0.999979	D;D	0.89917	0.992;1.0	P;D	0.87578	0.876;0.998	T	0.44667	-0.9313	10	0.52906	T	0.07	-12.5231	18.5656	0.91115	0.0:1.0:0.0:0.0	.	590;834	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	834;834;590;590	ENSP00000377789:P834L;ENSP00000428378:P834L;ENSP00000429268:P590L	ENSP00000302139:P590L	P	+	2	0	SYNPO	150009799	0.867000	0.29959	0.531000	0.27976	0.460000	0.32559	3.167000	0.50793	2.480000	0.83734	0.462000	0.41574	CCC		0.677	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		4	319	0	0	0	1	0	4	319				
NCS1	23413	broad.mit.edu	37	9	132980220	132980220	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:132980220T>A	ENST00000372398.3	+	3	285	c.199T>A	c.(199-201)Ttt>Att	p.F67I	NCS1_ENST00000458469.1_Missense_Mutation_p.F49I	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						GTTTGCCACATTTGTTTTCAA	0.562																																					Melanoma(30;182 1162 22581 33240)	ENST00000372398.3																			0				large_intestine(1)|lung(4)|stomach(1)	6						c.(199-201)Ttt>Att		neuronal calcium sensor 1							95.0	95.0	95.0					9																	132980220		2203	4300	6503	SO:0001583	missense	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132980220T>A	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.199T>A	9.37:g.132980220T>A	ENSP00000361475:p.Phe67Ile		Somatic				NCS1_ENST00000458469.1_Missense_Mutation_p.F49I	p.F67I	NM_014286.3	NP_055101.2	WXS	Illumina GAIIx	Phase_I	P62166	NCS1_HUMAN			3	285	+			67			EF-hand 2.		E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	c.199T>A	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207757	0.39003	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	T;T	0.15718	2.4;2.4	4.55	3.41	0.39046	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	L	0.43701	1.375	0.80722	D	1	B;P	0.35383	0.317;0.498	B;B	0.28139	0.064;0.086	T	0.05037	-1.0910	10	0.56958	D	0.05	.	9.181	0.37141	0.0:0.0869:0.0:0.9131	.	49;67	E9PAY3;P62166	.;NCS1_HUMAN	I	67;49	ENSP00000361475:F67I;ENSP00000404103:F49I	ENSP00000361475:F67I	F	+	1	0	NCS1	132020041	1.000000	0.71417	0.906000	0.35671	0.193000	0.23685	4.940000	0.63533	0.615000	0.30124	0.455000	0.32223	TTT		0.562	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		6	349	0	0	0	1	0	6	349				
STX1A	6804	broad.mit.edu	37	7	73118581	73118581	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:73118581G>A	ENST00000222812.3	-	6	389	c.363C>T	c.(361-363)tcC>tcT	p.S121S	STX1A_ENST00000395155.3_Silent_p.S121S|STX1A_ENST00000395154.3_Silent_p.S121S|STX1A_ENST00000395156.3_Silent_p.S121S|WBSCR22_ENST00000423166.2_3'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	121					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGACAGCGTGGAGTGCTGGG	0.657																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(361-363)tcC>tcT		syntaxin 1A (brain)							41.0	39.0	40.0					7																	73118581		2203	4300	6503	SO:0001819	synonymous_variant	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73118581G>A		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.363C>T	7.37:g.73118581G>A			Somatic				WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Silent_p.S121S|STX1A_ENST00000395155.3_Silent_p.S121S|STX1A_ENST00000395156.3_Silent_p.S121S	p.S121S	NM_004603.3	NP_004594.1	WXS	Illumina GAIIx	Phase_I	Q16623	STX1A_HUMAN			6	389	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	121					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Silent	SNP	ENST00000222812.3	37	c.363C>T	CCDS34655.1																																																																																				0.657	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		3	59	0	0	0	1	0	3	59				
EBF2	64641	broad.mit.edu	37	8	25765997	25765997	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:25765997C>T	ENST00000520164.1	-	7	1163	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	EBF2_ENST00000408929.3_Missense_Mutation_p.R61Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	209					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TACCTGAAACCGTCTCATGTC	0.363																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(625-627)cGg>cAg		early B-cell factor 2							84.0	87.0	86.0					8																	25765997		1843	4092	5935	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25765997C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.626G>A	8.37:g.25765997C>T	ENSP00000430241:p.Arg209Gln		Somatic				EBF2_ENST00000408929.3_Missense_Mutation_p.R61Q	p.R209Q	NM_022659.3	NP_073150.2	WXS	Illumina GAIIx	Phase_I	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	7	1163	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	209					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.626G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832052	0.91036	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.57107	0.46;0.42	5.77	5.77	0.91146	.	0.000000	0.85682	U	0.000000	T	0.68229	0.2978	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	P	0.52386	0.697	T	0.70439	-0.4871	10	0.56958	D	0.05	-4.7389	20.3473	0.98799	0.0:1.0:0.0:0.0	.	209	Q9HAK2	COE2_HUMAN	Q	209;61	ENSP00000430241:R209Q;ENSP00000386178:R61Q	ENSP00000386178:R61Q	R	-	2	0	EBF2	25821914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.884000	0.98904	0.655000	0.94253	CGG		0.363	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		3	112	0	0	0	1	0	3	112				
ATP1A3	478	broad.mit.edu	37	19	42492513	42492513	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:42492513G>A	ENST00000302102.5	-	3	260	c.110C>T	c.(109-111)tCa>tTa	p.S37L	ATP1A3_ENST00000602133.1_Missense_Mutation_p.S7L|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S48L|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000545399.1_Missense_Mutation_p.S50L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	37					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCTTCCACTGACATCTTGTG	0.607																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(148-150)tCa>tTa		ATPase, Na+/K+ transporting, alpha 3 polypeptide							172.0	169.0	170.0					19																	42492513		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492513G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.110C>T	19.37:g.42492513G>A	ENSP00000302397:p.Ser37Leu		Somatic				ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S48L|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S37L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S7L	p.S50L	NM_001256214.1	NP_001243143.1	WXS	Illumina GAIIx	Phase_I	P13637	AT1A3_HUMAN			3	302	-			37					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.149C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132349	0.77662	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	4.62	4.62	0.57501	ATPase, P-type cation-transporter, N-terminal (2);	0.257134	0.31909	N	0.006878	D	0.93726	0.7995	M	0.90369	3.11	0.58432	D	0.999999	P;B;P;B	0.48350	0.511;0.297;0.909;0.345	B;B;P;B	0.48368	0.434;0.176;0.575;0.18	D	0.95050	0.8186	10	0.72032	D	0.01	.	15.4001	0.74834	0.0:0.0:1.0:0.0	.	50;48;37;37	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	L	37;37;50;7;48;50	ENSP00000302397:S37L;ENSP00000411503:S37L;ENSP00000444688:S50L;ENSP00000437577:S48L	ENSP00000302397:S37L	S	-	2	0	ATP1A3	47184353	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	7.188000	0.77739	2.328000	0.79073	0.485000	0.47835	TCA		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		15	2383	0	0	0	1	0	15	2383				
CASR	846	broad.mit.edu	37	3	121976052	121976052	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:121976052G>A	ENST00000490131.1	+	3	682	c.310G>A	c.(310-312)Gtt>Att	p.V104I	CASR_ENST00000296154.5_Missense_Mutation_p.V104I|CASR_ENST00000498619.1_Missense_Mutation_p.V104I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	104					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTGCAACACCGTTTCTAAGGC	0.453																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(310-312)Gtt>Att		calcium-sensing receptor	Cinacalcet(DB01012)						138.0	135.0	136.0					3																	121976052		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121976052G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.310G>A	3.37:g.121976052G>A	ENSP00000418685:p.Val104Ile		Somatic				CASR_ENST00000490131.1_Missense_Mutation_p.V104I|CASR_ENST00000296154.5_Missense_Mutation_p.V104I	p.V104I	NM_001178065.1	NP_001171536.1	WXS	Illumina GAIIx	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	748	+			104					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.310G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754037	0.69648	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.85861	-2.04;-2.04;-2.04	5.75	5.75	0.90469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87014	0.6072	N	0.25144	0.715	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.74023	0.982;0.833	D	0.84018	0.0352	10	0.21540	T	0.41	.	18.936	0.92586	0.0:0.0:1.0:0.0	.	104;104	E7ENE0;P41180	.;CASR_HUMAN	I	104	ENSP00000418685:V104I;ENSP00000420194:V104I;ENSP00000296154:V104I	ENSP00000296154:V104I	V	+	1	0	CASR	123458742	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	9.869000	0.99810	2.712000	0.92718	0.591000	0.81541	GTT		0.453	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		8	1016	0	0	0	1	0	8	1016				
MC2R	4158	broad.mit.edu	37	18	13884682	13884682	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:13884682C>T	ENST00000327606.3	-	2	1016	c.836G>A	c.(835-837)cGg>cAg	p.R279Q		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	279					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CTCTGGGCTCCGGAAGGCATA	0.498																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(835-837)cGg>cAg		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						111.0	106.0	108.0					18																	13884682		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884682C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.836G>A	18.37:g.13884682C>T	ENSP00000333821:p.Arg279Gln		Somatic					p.R279Q	NM_000529.2	NP_000520.1	WXS	Illumina GAIIx	Phase_I	Q01718	ACTHR_HUMAN			2	1016	-			279					A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.836G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	35	5.437369	0.96168	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.41065	1.01	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.86028	2.79	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.76069	-0.3094	10	0.87932	D	0	.	18.425	0.90606	0.0:1.0:0.0:0.0	.	279	Q01718	ACTHR_HUMAN	Q	279	ENSP00000333821:R279Q	ENSP00000333821:R279Q	R	-	2	0	MC2R	13874682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.194000	0.77789	2.350000	0.79820	0.655000	0.94253	CGG		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			8	282	0	0	0	1	0	8	282				
HIST1H2AK	8330	broad.mit.edu	37	6	27805804	27805804	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:27805804T>C	ENST00000330180.2	-	1	313	c.314A>G	c.(313-315)cAg>cGg	p.Q105R	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	105						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GACACCACCCTGGGCGATGGT	0.587																																						ENST00000330180.2																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(313-315)cAg>cGg		histone cluster 1, H2ak							112.0	112.0	112.0					6																	27805804		2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805804T>C	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.314A>G	6.37:g.27805804T>C	ENSP00000330307:p.Gln105Arg		Somatic					p.Q105R	NM_003510.2	NP_003501.1	WXS	Illumina GAIIx	Phase_I	P0C0S8	H2A1_HUMAN			1	313	-			105					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.314A>G	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	11.66	1.705339	0.30232	.	.	ENSG00000184348	ENST00000330180	T	0.42513	0.97	4.28	2.99	0.34606	.	0.000000	0.30168	U	0.010251	T	0.32133	0.0819	.	.	.	0.27776	N	0.94331	.	.	.	.	.	.	T	0.07868	-1.0750	7	0.87932	D	0	.	10.2269	0.43231	0.0:0.0:0.1662:0.8338	.	.	.	.	R	105	ENSP00000330307:Q105R	ENSP00000330307:Q105R	Q	-	2	0	HIST1H2AK	27913783	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	5.935000	0.70145	1.860000	0.53959	0.454000	0.30748	CAG		0.587	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		9	938	0	0	0	1	0	9	938				
NRXN1	9378	broad.mit.edu	37	2	50758562	50758562	+	Missense_Mutation	SNP	G	G	A	rs202044060		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:50758562G>A	ENST00000406316.2	-	11	3626	c.2150C>T	c.(2149-2151)aCg>aTg	p.T717M	NRXN1_ENST00000401669.2_Missense_Mutation_p.T717M|NRXN1_ENST00000405472.3_Missense_Mutation_p.T709M|NRXN1_ENST00000404971.1_Missense_Mutation_p.T757M|NRXN1_ENST00000402717.3_Missense_Mutation_p.T709M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.T717M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	717					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTCAAAACCGTTGCCTCTAG	0.393																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2269-2271)aCg>aTg		neurexin 1							34.0	34.0	34.0					2																	50758562		1917	4148	6065	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50758562G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2150C>T	2.37:g.50758562G>A	ENSP00000384311:p.Thr717Met		Somatic				NRXN1_ENST00000406316.2_Missense_Mutation_p.T717M|NRXN1_ENST00000401669.2_Missense_Mutation_p.T717M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.T709M|NRXN1_ENST00000406859.3_Missense_Mutation_p.T717M|NRXN1_ENST00000402717.3_Missense_Mutation_p.T709M	p.T757M	NM_001135659.1	NP_001129131.1	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		12	3609	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	717			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2270C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327144	0.81690	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	L	0.48877	1.53	0.54753	D	0.999989	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.91635	0.627;0.998;0.999	D	0.85173	0.0999	10	0.39692	T	0.17	.	20.1864	0.98220	0.0:0.0:1.0:0.0	.	757;717;709	Q9ULB1-3;F8WB18;A7E294	.;.;.	M	757;717;709;717;758;709;717	ENSP00000385142:T757M;ENSP00000384311:T717M;ENSP00000434015:T709M;ENSP00000385017:T717M;ENSP00000385434:T709M;ENSP00000385681:T717M	ENSP00000385017:T717M	T	-	2	0	NRXN1	50612066	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.809000	0.99208	2.836000	0.97738	0.655000	0.94253	ACG		0.393	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	57	0	0	0	1	0	3	57				
C5AR1	728	broad.mit.edu	37	19	47823116	47823116	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:47823116A>G	ENST00000355085.3	+	2	104	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	28					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCCTGTGGATAAAACTTCTAA	0.527																																						ENST00000355085.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(82-84)Aaa>Gaa		complement component 5a receptor 1							159.0	136.0	144.0					19																	47823116		2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823116A>G		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.82A>G	19.37:g.47823116A>G	ENSP00000347197:p.Lys28Glu		Somatic					p.K28E	NM_001736.3	NP_001727.1	WXS	Illumina GAIIx	Phase_I	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	104	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	28						Missense_Mutation	SNP	ENST00000355085.3	37	c.82A>G	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	A	1.547	-0.540189	0.04053	.	.	ENSG00000197405	ENST00000355085	T	0.36157	1.27	3.85	0.368	0.16146	.	218.422000	0.00166	U	0.000001	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.02654	T	1	.	6.9748	0.24669	0.7193:0.0:0.2807:0.0	.	28	P21730	C5AR_HUMAN	E	28	ENSP00000347197:K28E	ENSP00000347197:K28E	K	+	1	0	C5AR1	52514956	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.068000	0.11561	-0.018000	0.14079	0.391000	0.25812	AAA		0.527	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		4	276	0	0	0	1	0	4	276				
KLF11	8462	broad.mit.edu	37	2	10186489	10186489	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:10186489G>A	ENST00000305883.1	+	2	417	c.255G>A	c.(253-255)gtG>gtA	p.V85V	KLF11_ENST00000540845.1_Silent_p.V68V|KLF11_ENST00000535335.1_Silent_p.V68V	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	85					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCACCACTGTGCATATGGATG	0.502																																					Melanoma(56;431 1507 23687 50789)	ENST00000535335.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(202-204)gtG>gtA		Kruppel-like factor 11							99.0	91.0	94.0					2																	10186489		2203	4300	6503	SO:0001819	synonymous_variant	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10186489G>A	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.255G>A	2.37:g.10186489G>A			Somatic				KLF11_ENST00000540845.1_Silent_p.V68V|KLF11_ENST00000305883.1_Silent_p.V85V	p.V68V	NM_001177718.1	NP_001171189.1	WXS	Illumina GAIIx	Phase_I	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	2	420	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		85					B4DZE7|Q9EPF4	Silent	SNP	ENST00000305883.1	37	c.204G>A	CCDS1668.1																																																																																				0.502	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		31	171	0	0	0	1	0	31	171				
BIVM	54841	broad.mit.edu	37	13	103492160	103492160	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:103492160A>G	ENST00000257336.1	+	11	2136	c.1457A>G	c.(1456-1458)cAt>cGt	p.H486R	BIVM-ERCC5_ENST00000602836.1_Intron|BIVM_ENST00000448849.2_Missense_Mutation_p.H264R|BIVM_ENST00000419638.1_3'UTR	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	486						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTAGTATCCATGAGAGAAGG	0.443																																						ENST00000257336.1																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25						c.(1456-1458)cAt>cGt		basic, immunoglobulin-like variable motif containing							176.0	163.0	167.0					13																	103492160		2203	4300	6503	SO:0001583	missense	54841							g.chr13:103492160A>G	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1457A>G	13.37:g.103492160A>G	ENSP00000257336:p.His486Arg		Somatic				BIVM_ENST00000419638.1_3'UTR|BIVM-ERCC5_ENST00000602836.1_Intron|BIVM_ENST00000448849.2_Missense_Mutation_p.H264R	p.H486R	NM_017693.3	NP_060163.2	WXS	Illumina GAIIx	Phase_I					11	2136	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.1457A>G	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	3.222	-0.159418	0.06544	.	.	ENSG00000134897	ENST00000257336;ENST00000448849	.	.	.	5.4	4.24	0.50183	.	0.210963	0.41294	D	0.000910	T	0.12774	0.0310	N	0.04508	-0.205	0.26477	N	0.975178	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32134	-0.9918	9	0.02654	T	1	-14.9253	6.5803	0.22589	0.7733:0.0:0.2267:0.0	.	264;486	Q86UB2-2;Q86UB2	.;BIVM_HUMAN	R	486;264	.	ENSP00000257336:H486R	H	+	2	0	BIVM	102290161	0.561000	0.26578	0.999000	0.59377	0.993000	0.82548	1.323000	0.33701	2.034000	0.60081	0.460000	0.39030	CAT		0.443	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			7	508	0	0	0	1	0	7	508				
UMOD	7369	broad.mit.edu	37	16	20352527	20352527	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:20352527C>T	ENST00000570689.1	-	7	1609	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	UMOD_ENST00000396138.4_Missense_Mutation_p.G537D|UMOD_ENST00000302509.4_Missense_Mutation_p.G488D|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.G521D|UMOD_ENST00000396134.2_Missense_Mutation_p.G521D|UMOD_ENST00000396142.2_Missense_Mutation_p.G488D			P07911	UROM_HUMAN	uromodulin	488	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAACATGGTGCCCACGTAGAG	0.582																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1561-1563)gGc>gAc		uromodulin							101.0	78.0	86.0					16																	20352527		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352527C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1463G>A	16.37:g.20352527C>T	ENSP00000460548:p.Gly488Asp		Somatic				UMOD_ENST00000302509.4_Missense_Mutation_p.G488D|UMOD_ENST00000396142.2_Missense_Mutation_p.G488D|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.G521D|UMOD_ENST00000396138.4_Missense_Mutation_p.G537D|UMOD_ENST00000570689.1_Missense_Mutation_p.G488D	p.G521D	NM_001278614.1	NP_001265543.1	WXS	Illumina GAIIx	Phase_I	P07911	UROM_HUMAN			8	1685	-			488			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1562G>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589392	0.86851	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.34	5.34	0.76211	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.000000	0.50627	D	0.000108	D	0.92450	0.7603	M	0.88105	2.93	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93555	0.6890	10	0.87932	D	0	-38.9111	16.9011	0.86114	0.0:1.0:0.0:0.0	.	521;488	E9PEA4;P07911	.;UROM_HUMAN	D	488;521;521;488;466;488	ENSP00000379438:G521D;ENSP00000416346:G521D;ENSP00000306279:G488D;ENSP00000379446:G488D	ENSP00000306279:G488D	G	-	2	0	UMOD	20260028	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.823000	0.55715	2.646000	0.89796	0.655000	0.94253	GGC		0.582	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			5	550	0	0	0	1	0	5	550				
SARDH	1757	broad.mit.edu	37	9	136584121	136584121	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:136584121C>T	ENST00000371872.4	-	7	1216	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SARDH_ENST00000422262.2_Missense_Mutation_p.R152H|SARDH_ENST00000439388.1_Missense_Mutation_p.R320H|SARDH_ENST00000371867.1_Missense_Mutation_p.R231H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	320					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCTTGGAGGCGGAGGTAGAC	0.572																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(958-960)cGc>cAc		sarcosine dehydrogenase							143.0	121.0	128.0					9																	136584121		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136584121C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.959G>A	9.37:g.136584121C>T	ENSP00000360938:p.Arg320His		Somatic				SARDH_ENST00000439388.1_Missense_Mutation_p.R320H|SARDH_ENST00000371867.1_Missense_Mutation_p.R231H|SARDH_ENST00000422262.2_Missense_Mutation_p.R152H	p.R320H	NM_007101.3	NP_009032.2	WXS	Illumina GAIIx	Phase_I	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	7	1216	-			320					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.959G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992118	0.93167	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050	T;T;T;D	0.82803	0.3;0.3;0.3;-1.65	4.43	4.43	0.53597	FAD dependent oxidoreductase (1);	0.063724	0.64402	D	0.000008	D	0.91523	0.7323	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.93292	0.6669	10	0.87932	D	0	-30.1222	16.6749	0.85276	0.0:1.0:0.0:0.0	.	320	Q9UL12	SARDH_HUMAN	H	320;320;152;320;320;320;231;298	ENSP00000360938:R320H;ENSP00000403084:R320H;ENSP00000415537:R152H;ENSP00000360933:R231H	ENSP00000360933:R231H	R	-	2	0	SARDH	135573942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.467000	0.80930	2.024000	0.59613	0.462000	0.41574	CGC		0.572	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			13	703	0	0	0	1	0	13	703				
DNAAF2	55172	broad.mit.edu	37	14	50101771	50101771	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:50101771G>T	ENST00000298292.8	-	1	177	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	DNAAF2_ENST00000406043.3_Silent_p.R33R	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	33					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						AACATTCGCCGGAACTCCGGG	0.682																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(97-99)Cgg>Agg		dynein, axonemal, assembly factor 2							6.0	7.0	7.0					14																	50101771		1912	4056	5968	SO:0001819	synonymous_variant	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50101771G>T	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.97C>A	14.37:g.50101771G>T			Somatic				DNAAF2_ENST00000406043.3_Silent_p.R33R	p.R33R	NM_018139.2	NP_060609.2	WXS	Illumina GAIIx	Phase_I	Q9NVR5	KTU_HUMAN			1	177	-			33					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.97C>A	CCDS9691.2																																																																																				0.682	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			2	3	1	0	1	1	1	2	3				
KIF26A	26153	broad.mit.edu	37	14	104639446	104639446	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:104639446T>G	ENST00000423312.2	+	8	1553	c.1553T>G	c.(1552-1554)gTc>gGc	p.V518G	KIF26A_ENST00000315264.7_Missense_Mutation_p.V379G	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	518	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TCCGTCCGGGTCTCAGCCGTG	0.701																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1135-1137)gTc>gGc		kinesin family member 26A							12.0	18.0	16.0					14																	104639446		2062	4162	6224	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104639446T>G	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1553T>G	14.37:g.104639446T>G	ENSP00000388241:p.Val518Gly		Somatic				KIF26A_ENST00000423312.2_Missense_Mutation_p.V518G	p.V379G			WXS	Illumina GAIIx	Phase_I	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	7	1514	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	518			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.1136T>G	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287139	0.80803	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.79352	-1.26;-1.26	4.94	4.94	0.65067	Kinesin, motor domain (4);	.	.	.	.	D	0.89774	0.6812	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91983	0.5596	9	0.87932	D	0	.	14.5902	0.68359	0.0:0.0:0.0:1.0	.	518	Q9ULI4	KI26A_HUMAN	G	518;379	ENSP00000388241:V518G;ENSP00000325452:V379G	ENSP00000325452:V379G	V	+	2	0	KIF26A	103709199	1.000000	0.71417	0.830000	0.32933	0.472000	0.32918	7.695000	0.84257	1.848000	0.53677	0.379000	0.24179	GTC		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			2	5	0	0	0	1	0	2	5				
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12379-12381)gCg>gTg		ryanodine receptor 3							144.0	143.0	143.0					15																	34130561		1889	4100	5989	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130561C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12380C>T	15.37:g.34130561C>T	ENSP00000373884:p.Ala4127Val		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	p.A4127V	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12450	+		all_lung(180;7.18e-09)	4127					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12380C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097237	0.01843	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96619	-4.07	5.8	2.07	0.26955	.	0.644280	0.15045	N	0.283606	D	0.91526	0.7324	L	0.41492	1.28	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.10450	0.002;0.005	T	0.83074	-0.0141	10	0.45353	T	0.12	.	3.025	0.06087	0.3072:0.4573:0.0931:0.1424	.	4122;4127	Q15413-2;Q15413	.;RYR3_HUMAN	V	4127;4123	ENSP00000373884:A4127V	ENSP00000354735:A4123V	A	+	2	0	RYR3	31917853	1.000000	0.71417	0.071000	0.20095	0.022000	0.10575	1.429000	0.34903	0.470000	0.27294	-1.461000	0.01025	GCG		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	440	0	0	0	1	0	4	440				
PTPRZ1	5803	broad.mit.edu	37	7	121651084	121651084	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:121651084G>A	ENST00000393386.2	+	12	2395	c.1984G>A	c.(1984-1986)Gca>Aca	p.A662T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.A662T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	662					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGACATAACAGCACAGCCCGA	0.433																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1984-1986)Gca>Aca		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							68.0	61.0	63.0					7																	121651084		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651084G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1984G>A	7.37:g.121651084G>A	ENSP00000377047:p.Ala662Thr		Somatic				PTPRZ1_ENST00000449182.1_Missense_Mutation_p.A662T	p.A662T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			12	2395	+			662					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1984G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.570574	0.00133	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.39997	1.07;1.05	5.87	0.578	0.17391	.	0.789112	0.11744	N	0.533673	T	0.08447	0.0210	N	0.00170	-1.935	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36432	-0.9748	10	0.02654	T	1	.	8.3773	0.32451	0.6496:0.0:0.3504:0.0	.	662;662;662	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	T	662	ENSP00000377047:A662T;ENSP00000410000:A662T	ENSP00000377047:A662T	A	+	1	0	PTPRZ1	121438320	0.000000	0.05858	0.006000	0.13384	0.159000	0.22180	0.137000	0.15995	0.075000	0.16796	-0.345000	0.07892	GCA		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	210	0	0	0	1	0	4	210				
SCAF8	22828	broad.mit.edu	37	6	155123148	155123148	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:155123148C>A	ENST00000367178.3	+	7	1226	c.650C>A	c.(649-651)cCc>cAc	p.P217H	SCAF8_ENST00000367186.4_Missense_Mutation_p.P283H|SCAF8_ENST00000417268.1_Missense_Mutation_p.P217H	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	217	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.P217H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAACAGAAGCCCCAGCCTTCC	0.428																																						ENST00000367178.3																			1	Substitution - Missense(1)	p.P217H(1)	kidney(1)	breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(649-651)cCc>cAc		SR-related CTD-associated factor 8							78.0	82.0	81.0					6																	155123148		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155123148C>A	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.650C>A	6.37:g.155123148C>A	ENSP00000356146:p.Pro217His		Somatic				SCAF8_ENST00000417268.1_Missense_Mutation_p.P217H|SCAF8_ENST00000367186.4_Missense_Mutation_p.P283H	p.P217H	NM_014892.3	NP_055707.3	WXS	Illumina GAIIx	Phase_I	Q9UPN6	SCAF8_HUMAN			7	1226	+			217			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.650C>A	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969593	0.74246	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.52983	0.67;0.67;0.64	5.94	5.94	0.96194	.	0.000000	0.85682	U	0.000000	T	0.64034	0.2562	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64058	-0.6496	10	0.72032	D	0.01	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	262;283;295;217	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	H	217;217;283	ENSP00000356146:P217H;ENSP00000413098:P217H;ENSP00000356154:P283H	ENSP00000356146:P217H	P	+	2	0	SCAF8	155164840	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	7.487000	0.81328	2.820000	0.97059	0.650000	0.86243	CCC		0.428	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		133	118	1	0	5.19043e-41	1	5.79466e-41	133	118				
PLA2G4D	283748	broad.mit.edu	37	15	42361123	42361123	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:42361123G>A	ENST00000290472.3	-	20	2341	c.2247C>T	c.(2245-2247)ccC>ccT	p.P749P		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	749	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGAGCTCTGCGGGGCTGCGCT	0.687																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(2245-2247)ccC>ccT		phospholipase A2, group IVD (cytosolic)							18.0	16.0	17.0					15																	42361123		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42361123G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.2247C>T	15.37:g.42361123G>A			Somatic					p.P749P	NM_178034.3	NP_828848.3	WXS	Illumina GAIIx	Phase_I	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	20	2341	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	749			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.2247C>T	CCDS32203.1																																																																																				0.687	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		3	29	0	0	0	1	0	3	29				
ILF3	3609	broad.mit.edu	37	19	10791902	10791902	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:10791902C>A	ENST00000590261.1	+	10	1077	c.1077C>A	c.(1075-1077)atC>atA	p.I359I	ILF3_ENST00000420083.1_Silent_p.I359I|ILF3_ENST00000250241.8_Silent_p.I359I|ILF3_ENST00000588657.1_Silent_p.I359I|ILF3_ENST00000318511.3_Silent_p.I359I|ILF3_ENST00000407004.3_Silent_p.I359I|ILF3_ENST00000449870.1_Silent_p.I359I|ILF3_ENST00000592763.1_Silent_p.I359I|ILF3_ENST00000589998.1_Silent_p.I359I			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	359	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGTTCAGATCCCACCAAGCA	0.572																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1075-1077)atC>atA		interleukin enhancer binding factor 3, 90kDa							128.0	127.0	127.0					19																	10791902		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10791902C>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1077C>A	19.37:g.10791902C>A			Somatic				ILF3_ENST00000589998.1_Silent_p.I359I|ILF3_ENST00000250241.8_Silent_p.I359I|ILF3_ENST00000588657.1_Silent_p.I359I|ILF3_ENST00000318511.3_Silent_p.I359I|ILF3_ENST00000420083.1_Silent_p.I359I|ILF3_ENST00000407004.3_Silent_p.I359I|ILF3_ENST00000590261.1_Silent_p.I359I|ILF3_ENST00000592763.1_Silent_p.I359I	p.I359I	NM_017620.2	NP_060090.2	WXS	Illumina GAIIx	Phase_I	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		11	1394	+			359					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.1077C>A	CCDS12246.1																																																																																				0.572	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			5	139	1	0	8.12818e-05	1	8.66118e-05	5	139				
KCNQ5	56479	broad.mit.edu	37	6	73332245	73332245	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:73332245C>T	ENST00000370398.1	+	1	437	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	KCNQ5_ENST00000355635.3_Missense_Mutation_p.R110W|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R110W|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R110W|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R110W	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	110					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.V111fs*41(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAAGTACCGGCGGGTGCAGAA	0.667																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			1	Insertion - Frameshift(1)	p.V111fs*41(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(328-330)Cgg>Tgg		potassium voltage-gated channel, KQT-like subfamily, member 5							24.0	26.0	25.0					6																	73332245		2202	4295	6497	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73332245C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.328C>T	6.37:g.73332245C>T	ENSP00000359425:p.Arg110Trp		Somatic				KCNQ5_ENST00000370398.1_Missense_Mutation_p.R110W|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R110W|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R110W|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R110W	p.R110W	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	WXS	Illumina GAIIx	Phase_I	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	1	726	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	110					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.328C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816840	0.50633	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.99470	-5.82;-5.77;-5.78;-5.73;-5.82;-5.79;-5.82;-5.96	4.45	1.34	0.21922	.	0.466719	0.16861	N	0.196522	D	0.99124	0.9698	M	0.62723	1.935	0.41023	D	0.985091	D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.998;0.997;0.998	D;D;D;D;D;D	0.76575	0.988;0.963;0.918;0.963;0.918;0.946	D	0.98997	1.0810	10	0.87932	D	0	-6.7287	13.4513	0.61172	0.6355:0.3645:0.0:0.0	.	110;110;110;110;110;110	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	W	110	ENSP00000345055:R110W;ENSP00000347326:R110W;ENSP00000359425:R110W;ENSP00000359419:R110W;ENSP00000385501:R110W;ENSP00000347853:R110W;ENSP00000384453:R110W;ENSP00000409861:R110W	ENSP00000345055:R110W	R	+	1	2	KCNQ5	73388966	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	0.704000	0.25661	0.287000	0.22375	0.561000	0.74099	CGG		0.667	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		3	10	0	0	0	1	0	3	10				
TRPV5	56302	broad.mit.edu	37	7	142609690	142609690	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142609690G>T	ENST00000265310.1	-	13	2094	c.1746C>A	c.(1744-1746)caC>caA	p.H582Q		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	582					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCACCCTCCAGTGGGTGTCGC	0.517																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1744-1746)caC>caA		transient receptor potential cation channel, subfamily V, member 5							97.0	90.0	92.0					7																	142609690		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142609690G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1746C>A	7.37:g.142609690G>T	ENSP00000265310:p.His582Gln		Somatic					p.H582Q	NM_019841.4	NP_062815.2	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			13	2094	-	Melanoma(164;0.059)		582					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1746C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515120	0.64634	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.82433	-1.61;-1.61	5.58	3.76	0.43208	.	0.169639	0.52532	D	0.000062	D	0.88511	0.6456	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87657	0.2532	10	0.42905	T	0.14	-13.4904	11.2286	0.48899	0.1486:0.0:0.8514:0.0	.	582	Q9NQA5	TRPV5_HUMAN	Q	582;527	ENSP00000265310:H582Q;ENSP00000406361:H527Q	ENSP00000265310:H582Q	H	-	3	2	TRPV5	142319812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.226000	0.42963	1.500000	0.48636	0.650000	0.86243	CAC		0.517	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		31	1081	1	0	2.44723e-14	1	2.71142e-14	31	1081				
C19orf40	91442	broad.mit.edu	37	19	33464192	33464192	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33464192G>A	ENST00000588258.1	+	2	200	c.90G>A	c.(88-90)ctG>ctA	p.L30L	CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000590597.2_5'Flank|C19orf40_ENST00000589646.1_Intron|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Silent_p.L30L|CEP89_ENST00000591863.1_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	30					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GGTCACAGCTGGCGCAGGAGA	0.532								Direct reversal of damage																														ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(88-90)ctG>ctA	Direct reversal of damage	chromosome 19 open reading frame 40							61.0	63.0	63.0					19																	33464192		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464192G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.90G>A	19.37:g.33464192G>A			Somatic				C19orf40_ENST00000590281.1_Silent_p.L30L|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_Intron	p.L30L	NM_152266.3	NP_689479.1	WXS	Illumina GAIIx	Phase_I	Q9BTP7	FAP24_HUMAN			2	200	+	Esophageal squamous(110;0.137)		30					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.90G>A	CCDS12426.1																																																																																				0.532	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		10	1393	0	0	0	1	0	10	1393				
WLS	79971	broad.mit.edu	37	1	68611602	68611602	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:68611602T>C	ENST00000262348.4	-	9	1481	c.1228A>G	c.(1228-1230)Aag>Gag	p.K410E	WLS_ENST00000491811.1_5'UTR|WLS_ENST00000370976.3_Missense_Mutation_p.K319E|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.K410E|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.K408E	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	410					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.K410E(1)|p.K408E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGGACTGCTTCCCACTGATG	0.517																																						ENST00000262348.4																			2	Substitution - Missense(2)	p.K410E(1)|p.K408E(1)	kidney(2)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(1228-1230)Aag>Gag		wntless Wnt ligand secretion mediator							152.0	142.0	146.0					1																	68611602		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68611602T>C	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1228A>G	1.37:g.68611602T>C	ENSP00000262348:p.Lys410Glu		Somatic				WLS_ENST00000370976.3_Missense_Mutation_p.K319E|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Missense_Mutation_p.K408E|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.K410E|GNG12-AS1_ENST00000420587.1_RNA	p.K410E	NM_024911.6	NP_079187.3	WXS	Illumina GAIIx	Phase_I	Q5T9L3	WLS_HUMAN			9	1481	-			410					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.1228A>G	CCDS642.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035990	0.93630	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.984;0.998;0.997	T	0.68368	-0.5427	10	0.72032	D	0.01	-27.9899	15.3914	0.74747	0.0:0.0:0.0:1.0	.	410;319;410;408	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	E	410;408;410;319	ENSP00000446112:K410E;ENSP00000346829:K408E;ENSP00000262348:K410E;ENSP00000360015:K319E	ENSP00000262348:K410E	K	-	1	0	WLS	68384190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.042000	0.60477	0.533000	0.62120	AAG		0.517	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		70	797	0	0	0	1	0	70	797				
DTX4	23220	broad.mit.edu	37	11	58959700	58959700	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:58959700G>A	ENST00000227451.3	+	6	1455	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	DTX4_ENST00000532982.1_Missense_Mutation_p.A345T|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	451					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTGCTTGGTTGCCATGTACAA	0.582																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1351-1353)Gcc>Acc		deltex homolog 4 (Drosophila)							138.0	135.0	136.0					11																	58959700		2022	4173	6195	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58959700G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1351G>A	11.37:g.58959700G>A	ENSP00000227451:p.Ala451Thr		Somatic				DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.A345T	p.A451T	NM_015177.1	NP_055992.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E6	DTX4_HUMAN			6	1455	+		all_epithelial(135;0.125)	451					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1351G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658050	0.96734	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.44083	0.93;0.93	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56360	-0.7992	10	0.44086	T	0.13	.	18.8417	0.92186	0.0:0.0:1.0:0.0	.	451	Q9Y2E6	DTX4_HUMAN	T	345;451	ENSP00000434055:A345T;ENSP00000227451:A451T	ENSP00000227451:A451T	A	+	1	0	DTX4	58716276	1.000000	0.71417	0.987000	0.45799	0.841000	0.47740	9.830000	0.99415	2.733000	0.93635	0.655000	0.94253	GCC		0.582	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		7	1248	0	0	0	1	0	7	1248				
S100A9	6280	broad.mit.edu	37	1	153330777	153330777	+	Silent	SNP	G	G	A	rs112531265	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:153330777G>A	ENST00000368738.3	+	2	61	c.18G>A	c.(16-18)tcG>tcA	p.S6S		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	6				S -> H (in Ref. 12; AA sequence). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAAATGTCGCAGCTGGAAC	0.478													G|||	3	0.000599042	0.0	0.0014	5008	,	,		20385	0.0		0.002	False		,,,				2504	0.0					ENST00000368738.3																			0				breast(1)|endometrium(1)|large_intestine(2)	4						c.(16-18)tcG>tcA		S100 calcium binding protein A9		G		3,4403	6.2+/-15.9	0,3,2200	105.0	93.0	97.0		18	-8.9	0.0	1	dbSNP_132	97	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous	S100A9	NM_002965.3		0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768		6/115	153330777	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	6280				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity	g.chr1:153330777G>A	BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.18G>A	1.37:g.153330777G>A			Somatic					p.S6S	NM_002965.3	NP_002956.1	WXS	Illumina GAIIx	Phase_I	P06702	S10A9_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	61	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		6	S -> H (in Ref. 12; AA sequence).				D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Silent	SNP	ENST00000368738.3	37	c.18G>A	CCDS1036.1																																																																																				0.478	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965		5	371	0	0	0	1	0	5	371				
CCDC144A	9720	broad.mit.edu	37	17	16593959	16593959	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:16593959G>A	ENST00000360524.8	+	1	321	c.245G>A	c.(244-246)gGc>gAc	p.G82D	CCDC144A_ENST00000340621.5_Missense_Mutation_p.G82D|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Missense_Mutation_p.G82D|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G82D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G82D|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G82D	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	82																	GAAGATCTTGGCGAGCTCCAC	0.627																																						ENST00000443444.2																			0											c.(244-246)gGc>gAc		coiled-coil domain containing 144A							84.0	94.0	90.0					17																	16593959		2203	4297	6500	SO:0001583	missense	9720							g.chr17:16593959G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.245G>A	17.37:g.16593959G>A	ENSP00000353717:p.Gly82Asp		Somatic				CCDC144A_ENST00000360524.8_Missense_Mutation_p.G82D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G82D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G82D|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G82D|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G82D	p.G82D			WXS	Illumina GAIIx	Phase_I	A2RUR9	C144A_HUMAN			1	385	+			82					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.245G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	5.832	0.337827	0.11013	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	0.542	0.542	0.17174	.	.	.	.	.	T	0.07143	0.0181	N	0.14661	0.345	0.09310	N	1	P	0.45531	0.86	B	0.28849	0.095	T	0.24728	-1.0152	8	0.11794	T	0.64	.	.	.	.	.	82	A2RUR9	C144A_HUMAN	D	82	ENSP00000344740:G82D;ENSP00000382215:G82D;ENSP00000439262:G82D;ENSP00000440655:G82D;ENSP00000353717:G82D;ENSP00000394201:G82D;ENSP00000353685:G82D	ENSP00000344740:G82D	G	+	2	0	CCDC144A	16534684	0.078000	0.21339	0.001000	0.08648	0.001000	0.01503	-0.053000	0.11846	0.546000	0.28920	0.398000	0.26397	GGC		0.627	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			35	481	0	0	0	1	0	35	481				
TPK1	27010	broad.mit.edu	37	7	144150707	144150707	+	Silent	SNP	G	G	A	rs113536847	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:144150707G>A	ENST00000360057.3	-	9	765	c.663C>T	c.(661-663)taC>taT	p.Y221Y	TPK1_ENST00000549981.1_3'UTR|TPK1_ENST00000378099.3_Silent_p.Y172Y|RNU6ATAC40P_ENST00000408580.1_RNA|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Silent_p.Y167Y	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	221					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CAGACCCGTCGTAGGTATTGG	0.428													G|||	4	0.000798722	0.0	0.0	5008	,	,		17653	0.0		0.001	False		,,,				2504	0.0031				Ovarian(45;88 1034 2073 5829 28455)	ENST00000360057.3																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(661-663)taC>taT		thiamin pyrophosphokinase 1	Thiamine(DB00152)	G	,	3,4403	6.2+/-15.9	0,3,2200	166.0	147.0	153.0		516,663	-5.4	0.3	7	dbSNP_132	153	30,8570	20.4+/-63.3	0,30,4270	no	coding-synonymous,coding-synonymous	TPK1	NM_001042482.1,NM_022445.3	,	0,33,6470	AA,AG,GG		0.3488,0.0681,0.2537	,	172/195,221/244	144150707	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144150707G>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.663C>T	7.37:g.144150707G>A			Somatic				TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000549981.1_3'UTR|TPK1_ENST00000378099.3_Silent_p.Y172Y|TPK1_ENST00000538212.2_Silent_p.Y167Y	p.Y221Y	NM_022445.3	NP_071890.2	WXS	Illumina GAIIx	Phase_I	Q9H3S4	TPK1_HUMAN			9	765	-			221					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Silent	SNP	ENST00000360057.3	37	c.663C>T	CCDS5888.1																																																																																				0.428	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		5	549	0	0	0	1	0	5	549				
PTPRS	5802	broad.mit.edu	37	19	5244191	5244191	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5244191G>A	ENST00000587303.1	-	10	1390	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	PTPRS_ENST00000262963.6_Missense_Mutation_p.R427W|PTPRS_ENST00000372412.4_Missense_Mutation_p.R432W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.R418W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R418W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R418W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R418W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R431W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGCACGTTCCGCGGCGCGCTG	0.697																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1294-1296)Cgg>Tgg		protein tyrosine phosphatase, receptor type, S							47.0	50.0	49.0					19																	5244191		2202	4298	6500	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244191G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1291C>T	19.37:g.5244191G>A	ENSP00000467537:p.Arg431Trp		Somatic				PTPRS_ENST00000262963.6_Missense_Mutation_p.R427W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.R418W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R418W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R418W|PTPRS_ENST00000587303.1_Missense_Mutation_p.R431W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R431W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R418W	p.R432W			WXS	Illumina GAIIx	Phase_I	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1527	-			431			Fibronectin type-III 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1294C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.322933	0.41096	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	3.93	1.65	0.23941	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000017	T	0.75466	0.3853	M	0.85542	2.76	0.19575	N	0.999961	D;D;D;D;D;D	0.89917	1.0;0.998;0.975;1.0;1.0;0.999	D;P;P;D;D;D	0.91635	0.947;0.627;0.663;0.999;0.999;0.939	T	0.68010	-0.5522	10	0.87932	D	0	.	11.8032	0.52139	0.0:0.0:0.6699:0.3301	.	431;418;422;418;431;444	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	W	444;432;431;431;431;427;418;431;422;418	ENSP00000361489:R432W;ENSP00000349932:R431W;ENSP00000262963:R427W;ENSP00000269907:R418W;ENSP00000327313:R418W	ENSP00000262963:R427W	R	-	1	2	PTPRS	5195191	0.989000	0.36119	0.020000	0.16555	0.441000	0.31987	2.009000	0.40903	0.285000	0.22329	0.462000	0.41574	CGG		0.697	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	718	0	0	0	1	0	7	718				
C14orf177	283598	broad.mit.edu	37	14	99183502	99183502	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:99183502G>T	ENST00000325812.2	+	4	688	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	90								p.G90V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ACTTCTCCAGGGTCATGTAAT	0.433																																						ENST00000325812.2																			1	Substitution - Missense(1)	p.G90V(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(268-270)gGg>gTg		chromosome 14 open reading frame 177							133.0	109.0	117.0					14																	99183502		2203	4300	6503	SO:0001583	missense	283598							g.chr14:99183502G>T	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.269G>T	14.37:g.99183502G>T	ENSP00000321360:p.Gly90Val		Somatic					p.G90V	NM_182560.2	NP_872366.2	WXS	Illumina GAIIx	Phase_I	Q52M58	CN177_HUMAN			4	688	+		Melanoma(154;0.128)	90					Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	c.269G>T	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	G	8.360	0.832979	0.16820	.	.	ENSG00000176605	ENST00000325812	T	0.47177	0.85	3.23	0.124	0.14714	.	.	.	.	.	T	0.41673	0.1169	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.27088	-1.0084	9	0.87932	D	0	.	5.2752	0.15645	0.47:0.0:0.53:0.0	.	90	Q52M58	CN177_HUMAN	V	90	ENSP00000321360:G90V	ENSP00000321360:G90V	G	+	2	0	C14orf177	98253255	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.032000	0.12266	0.011000	0.14865	0.655000	0.94253	GGG		0.433	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		7	332	1	0	1.33987e-11	1	1.47059e-11	7	332				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A			Somatic						NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	5	130	0	0	0	1	0	5	130				
EPHA4	2043	broad.mit.edu	37	2	222320373	222320373	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:222320373A>G	ENST00000281821.2	-	8	1650	c.1609T>C	c.(1609-1611)Tcc>Ccc	p.S537P	EPHA4_ENST00000392071.4_Missense_Mutation_p.S486P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S537P|EPHA4_ENST00000409938.1_Missense_Mutation_p.S537P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	537	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGATCCGGGAAGGCACTGGG	0.488																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1609-1611)Tcc>Ccc		EPH receptor A4							88.0	81.0	84.0					2																	222320373		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222320373A>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1609T>C	2.37:g.222320373A>G	ENSP00000281821:p.Ser537Pro		Somatic				EPHA4_ENST00000409938.1_Missense_Mutation_p.S537P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S537P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S486P	p.S537P	NM_004438.3	NP_004429.1	WXS	Illumina GAIIx	Phase_I	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	8	1650	-		Renal(207;0.0183)	537					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1609T>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349650	0.41599	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.73	5.73	0.89815	.	0.292146	0.39210	N	0.001434	T	0.61022	0.2314	L	0.33189	0.99	0.80722	D	1	B	0.26635	0.155	B	0.25405	0.06	T	0.56914	-0.7900	10	0.23891	T	0.37	.	16.0329	0.80593	1.0:0.0:0.0:0.0	.	537	P54764	EPHA4_HUMAN	P	537;537;537;486	ENSP00000281821:S537P;ENSP00000386276:S537P;ENSP00000386829:S537P;ENSP00000375923:S486P	ENSP00000281821:S537P	S	-	1	0	EPHA4	222028617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.695000	0.74593	2.197000	0.70478	0.533000	0.62120	TCC		0.488	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			3	95	0	0	0	1	0	3	95				
MPV17L2	84769	broad.mit.edu	37	19	18305895	18305895	+	Splice_Site	SNP	G	G	A	rs202082460		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:18305895G>A	ENST00000599612.2	+	4	663	c.563G>A	c.(562-564)cGg>cAg	p.R188Q		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	188						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGAAGTACCGGGTGAGTGTG	0.612																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.e4+1		MPV17 mitochondrial membrane protein-like 2							97.0	97.0	97.0					19																	18305895		2057	4188	6245	SO:0001630	splice_region_variant	84769					integral to membrane		g.chr19:18305895G>A	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.564+1G>A	19.37:g.18305895G>A			Somatic				MPV17L2_ENST00000534474.2_Splice_Site_p.P162_splice	p.R188_splice	NM_032683.2	NP_116072.2	WXS	Illumina GAIIx	Phase_I	Q567V2	M17L2_HUMAN			4	663	+			188					Q96P34|Q96QA0|Q9BSG4	Splice_Site	SNP	ENST00000599612.2	37	c.564_splice	CCDS42522.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.915856	0.92178	.	.	ENSG00000254858	ENST00000534474;ENST00000247712	D	0.90004	-2.6	4.26	4.26	0.50523	.	0.112377	0.56097	D	0.000021	D	0.91023	0.7176	M	0.62088	1.915	0.41380	D	0.987547	D	0.71674	0.998	P	0.55923	0.787	D	0.89820	0.3988	10	0.27785	T	0.31	.	15.6227	0.76820	0.0:0.0:1.0:0.0	.	188	Q567V2	M17L2_HUMAN	Q	163;188	ENSP00000247712:R188Q	ENSP00000247712:R188Q	R	+	2	0	MPV17L2	18166895	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.417000	0.80156	2.092000	0.63282	0.455000	0.32223	CGG		0.612	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683	Missense_Mutation	6	521	0	0	0	1	0	6	521				
METTL7B	196410	broad.mit.edu	37	12	56075856	56075856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56075856C>A	ENST00000394252.3	+	1	527	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	106							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						TTGAGAAGTTCCTGACAAAGA	0.572																																						ENST00000394252.3																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(316-318)ttC>ttA		methyltransferase like 7B							99.0	89.0	92.0					12																	56075856		2203	4300	6503	SO:0001583	missense	196410						methyltransferase activity	g.chr12:56075856C>A		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.318C>A	12.37:g.56075856C>A	ENSP00000377796:p.Phe106Leu		Somatic					p.F106L	NM_152637.2	NP_689850.2	WXS	Illumina GAIIx	Phase_I	Q6UX53	MET7B_HUMAN			1	527	+			106					A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	c.318C>A	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310427	0.81358	.	.	ENSG00000170439	ENST00000394252	T	0.56275	0.47	4.96	3.11	0.35812	Methyltransferase type 11 (1);	0.190141	0.47852	D	0.000215	T	0.36248	0.0960	N	0.01482	-0.84	0.35648	D	0.811535	D	0.56746	0.977	D	0.64506	0.926	T	0.37502	-0.9703	10	0.11182	T	0.66	-22.6237	8.8192	0.35016	0.0:0.7652:0.1507:0.0841	.	106	Q6UX53	MET7B_HUMAN	L	106	ENSP00000377796:F106L	ENSP00000377796:F106L	F	+	3	2	METTL7B	54362123	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	1.172000	0.31908	0.647000	0.30713	0.655000	0.94253	TTC		0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		4	235	1	0	0.184627	1	0.189154	4	235				
REPIN1	29803	broad.mit.edu	37	7	150069860	150069860	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150069860G>A	ENST00000425389.2	+	1	1608	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	REPIN1_ENST00000540729.1_Silent_p.T510T|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Silent_p.T510T|REPIN1_ENST00000444957.1_Silent_p.T510T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.T567T	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	510					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCATCCACACGGGCGAGCGGC	0.667																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1528-1530)acG>acA		replication initiator 1																																				SO:0001819	synonymous_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069860G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1530G>A	7.37:g.150069860G>A			Somatic				REPIN1_ENST00000489432.2_Silent_p.T567T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.T510T|REPIN1_ENST00000540729.1_Silent_p.T510T|REPIN1_ENST00000425389.2_Silent_p.T510T	p.T510T	NM_013400.3	NP_037532.2	WXS	Illumina GAIIx	Phase_I	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	2019	+	Ovarian(565;0.183)|Melanoma(164;0.226)		510					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	c.1530G>A	CCDS43677.1																																																																																				0.667	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		5	377	0	0	0	1	0	5	377				
VSIG1	340547	broad.mit.edu	37	X	107316490	107316490	+	Silent	SNP	C	C	T	rs370374581		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:107316490C>T	ENST00000217957.5	+	5	696	c.579C>T	c.(577-579)acC>acT	p.T193T	VSIG1_ENST00000415430.3_Silent_p.T229T|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	193	Ig-like C2-type 2.					integral component of membrane (GO:0016021)		p.T229T(2)|p.T193T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ACCCAACCACCGGGATTTTGG	0.428																																						ENST00000415430.3																			3	Substitution - coding silent(3)	p.T229T(2)|p.T193T(1)	lung(3)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(685-687)acC>acT		V-set and immunoglobulin domain containing 1		C	,	0,3835		0,0,0,1632,571	194.0	183.0	187.0		687,579	-5.8	0.0	X		187	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	VSIG1	NM_001170553.1,NM_182607.4	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,	229/424,193/388	107316490	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107316490C>T	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.579C>T	X.37:g.107316490C>T			Somatic				VSIG1_ENST00000217957.5_Silent_p.T193T|VSIG1_ENST00000485533.1_3'UTR	p.T229T	NM_001170553.1	NP_001164024.1	WXS	Illumina GAIIx	Phase_I	Q86XK7	VSIG1_HUMAN			6	848	+			193					C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.687C>T	CCDS14535.1																																																																																				0.428	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		13	1774	0	0	0	1	0	13	1774				
BRI3BP	140707	broad.mit.edu	37	12	125478492	125478492	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:125478492C>A	ENST00000341446.8	+	1	247	c.156C>A	c.(154-156)acC>acA	p.T52T		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGGTCAACACCTTCTCCCAGA	0.756																																						ENST00000341446.8																			0				large_intestine(1)|lung(8)|ovary(1)	10						c.(154-156)acC>acA		BRI3 binding protein							6.0	7.0	7.0					12																	125478492		2105	4163	6268	SO:0001819	synonymous_variant	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125478492C>A	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.156C>A	12.37:g.125478492C>A			Somatic					p.T52T	NM_080626.5	NP_542193.3	WXS	Illumina GAIIx	Phase_I	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	1	247	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		52						Silent	SNP	ENST00000341446.8	37	c.156C>A	CCDS9262.1																																																																																				0.756	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		2	3	1	0	6.4e-05	1	6.83212e-05	2	3				
DMBT1	1755	broad.mit.edu	37	10	124380741	124380741	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:124380741C>T	ENST00000338354.3	+	41	5172	c.5066C>T	c.(5065-5067)gCc>gTc	p.A1689V	DMBT1_ENST00000368909.3_Missense_Mutation_p.A1689V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.A1679V|DMBT1_ENST00000368955.3_Missense_Mutation_p.A1679V|DMBT1_ENST00000368956.2_Missense_Mutation_p.A1061V|DMBT1_ENST00000330163.4_Missense_Mutation_p.A1061V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1689	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCATGTCGGCCCCAGGAAAT	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5065-5067)gCc>gTc		deleted in malignant brain tumors 1							153.0	157.0	156.0					10																	124380741		1972	4157	6129	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380741C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5066C>T	10.37:g.124380741C>T	ENSP00000342210:p.Ala1689Val		Somatic				DMBT1_ENST00000368955.3_Missense_Mutation_p.A1679V|DMBT1_ENST00000330163.4_Missense_Mutation_p.A1061V|DMBT1_ENST00000368956.2_Missense_Mutation_p.A1061V|DMBT1_ENST00000344338.3_Missense_Mutation_p.A1679V|DMBT1_ENST00000338354.3_Missense_Mutation_p.A1689V|DMBT1_ENST00000359586.6_Intron	p.A1689V	NM_007329.2	NP_015568.2	WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			41	5172	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1689			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5066C>T		.	.	.	.	.	.	.	.	.	.	-	15.23	2.770392	0.49680	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	3.79	3.79	0.43588	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.43747	U	0.000521	T	0.78007	0.4216	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.975;0.99;0.993;0.968;0.995	T	0.81118	-0.1078	10	0.56958	D	0.05	.	15.5889	0.76510	0.0:1.0:0.0:0.0	.	1689;938;1818;1061;1679;1689	Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	V	1689;1818;1689;1689;1689;1689;1061;1679;1061;1061;1689;1679;1061	ENSP00000342210:A1689V;ENSP00000343175:A1679V;ENSP00000327747:A1061V;ENSP00000357905:A1689V;ENSP00000357951:A1679V;ENSP00000357952:A1061V	ENSP00000331522:A1061V	A	+	2	0	DMBT1	124370731	0.985000	0.35326	0.052000	0.19188	0.026000	0.11368	2.890000	0.48609	2.068000	0.61886	0.461000	0.40582	GCC		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	445	0	0	0	1	0	7	445				
RWDD2B	10069	broad.mit.edu	37	21	30380563	30380563	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:30380563G>A	ENST00000493196.1	-	3	460	c.360C>T	c.(358-360)gtC>gtT	p.V120V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	120	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TAACGTACCTGACAGTAATTT	0.383																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.(358-360)gtC>gtT		RWD domain containing 2B							73.0	75.0	74.0					21																	30380563		2203	4300	6503	SO:0001819	synonymous_variant	10069							g.chr21:30380563G>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.360C>T	21.37:g.30380563G>A			Somatic				RWDD2B_ENST00000486719.1_5'UTR	p.V120V	NM_016940.2	NP_058636.1	WXS	Illumina GAIIx	Phase_I	P57060	RWD2B_HUMAN			3	460	-			120			RWD.			Silent	SNP	ENST00000493196.1	37	c.360C>T	CCDS13582.1																																																																																				0.383	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			4	166	0	0	0	1	0	4	166				
BRD9	65980	broad.mit.edu	37	5	884125	884125	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:884125G>A	ENST00000467963.1	-	8	1060	c.894C>T	c.(892-894)caC>caT	p.H298H	BRD9_ENST00000323510.4_Silent_p.H202H|BRD9_ENST00000435709.2_Silent_p.H182H|BRD9_ENST00000483173.1_Silent_p.H245H|BRD9_ENST00000388890.4_Silent_p.H182H|BRD9_ENST00000494422.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	298					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCGCCAGCACGTGCTCCTCTG	0.627																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(604-606)caC>caT		bromodomain containing 9							131.0	100.0	110.0					5																	884125		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:884125G>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.894C>T	5.37:g.884125G>A			Somatic				BRD9_ENST00000388890.4_Silent_p.H182H|BRD9_ENST00000435709.2_Silent_p.H182H|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Silent_p.H245H|BRD9_ENST00000467963.1_Silent_p.H298H	p.H202H			WXS	Illumina GAIIx	Phase_I	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		5	605	-			298			Bromo.		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.606C>T	CCDS34127.2																																																																																				0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		4	374	0	0	0	1	0	4	374				
XIST	7503	broad.mit.edu	37	X	73071211	73071211	+	lincRNA	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:73071211G>A	ENST00000429829.1	-	0	1377					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACCTTCAGCCGCCATCTTTTC	0.542																																						ENST00000429829.1																			0																				315.0	285.0	294.0					X																	73071211		876	1991	2867			7503							g.chrX:73071211G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071211G>A			Somatic						NR_001564.2		WXS	Illumina GAIIx	Phase_I					0	1377	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.542	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		4	177	0	0	0	1	0	4	177				
CR1L	1379	broad.mit.edu	37	1	207890965	207890965	+	Missense_Mutation	SNP	G	G	A	rs376249786		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207890965G>A	ENST00000508064.2	+	11	1631	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	524	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACCATCCGCCGCACAAGTGAA	0.522																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1570-1572)cGc>cAc		complement component (3b/4b) receptor 1-like		G	HIS/ARG	0,3928		0,0,1964	153.0	151.0	152.0		1571	3.0	0.0	1		152	1,8295		0,1,4147	no	missense	CR1L	NM_175710.1	29	0,1,6111	AA,AG,GG		0.0121,0.0,0.0082	benign	524/570	207890965	1,12223	1964	4148	6112	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207890965G>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1571G>A	1.37:g.207890965G>A	ENSP00000421736:p.Arg524His		Somatic					p.R524H	NM_175710.1	NP_783641.1	WXS	Illumina GAIIx	Phase_I	Q2VPA4	CR1L_HUMAN			11	1631	+			524			Sushi 8.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1571G>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313730	0.40996	0.0	1.21E-4	ENSG00000197721	ENST00000508064	T	0.21543	2.0	3.01	3.01	0.34805	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	0.999997	B	0.28636	0.218	B	0.17433	0.018	T	0.17653	-1.0362	9	0.87932	D	0	.	10.1225	0.42630	0.0:0.0:1.0:0.0	.	524	Q2VPA4	CR1L_HUMAN	H	524	ENSP00000421736:R524H	ENSP00000421736:R524H	R	+	2	0	CR1L	205957588	0.941000	0.31946	0.032000	0.17829	0.294000	0.27393	4.125000	0.57931	1.639000	0.50556	0.305000	0.20034	CGC		0.522	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		4	459	0	0	0	1	0	4	459				
MYO15A	51168	broad.mit.edu	37	17	18069699	18069699	+	Missense_Mutation	SNP	G	G	A	rs373295633		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18069699G>A	ENST00000205890.5	+	61	10150	c.9812G>A	c.(9811-9813)cGc>cAc	p.R3271H	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R535H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3271	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTCAGTCGCCGTGCTTAC	0.607																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9811-9813)cGc>cAc		myosin XVA		G	HIS/ARG	1,4141		0,1,2070	93.0	98.0	96.0		9812	5.6	1.0	17		96	0,8434		0,0,4217	no	missense	MYO15A	NM_016239.3	29	0,1,6287	AA,AG,GG		0.0,0.0241,0.0080	probably-damaging	3271/3531	18069699	1,12575	2071	4217	6288	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18069699G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9812G>A	17.37:g.18069699G>A	ENSP00000205890:p.Arg3271His		Somatic				MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R535H	p.R3271H	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			61	10150	+	all_neural(463;0.228)		3271			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9812G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620660	0.46736	2.41E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D;D	0.88664	-2.41;-2.05	5.61	5.61	0.85477	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.91723	0.7383	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.997;0.966;0.992;0.999	P;P;P;P	0.59643	0.724;0.513;0.65;0.861	D	0.90379	0.4386	9	0.35671	T	0.21	.	13.876	0.63653	0.0729:0.0:0.9271:0.0	.	260;535;3271;278	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	H	3271;260	ENSP00000205890:R3271H;ENSP00000408800:R260H	ENSP00000205890:R3271H	R	+	2	0	MYO15A	18010424	1.000000	0.71417	0.982000	0.44146	0.918000	0.54935	5.997000	0.70646	2.633000	0.89246	0.591000	0.81541	CGC		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	1283	0	0	0	1	0	11	1283				
FAM120A	23196	broad.mit.edu	37	9	96291654	96291654	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:96291654C>A	ENST00000277165.6	+	9	1720	c.1526C>A	c.(1525-1527)gCc>gAc	p.A509D	FAM120A_ENST00000340893.4_Missense_Mutation_p.A509D|FAM120A_ENST00000333936.5_Missense_Mutation_p.A537D|FAM120A_ENST00000375389.3_Missense_Mutation_p.A509D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	509						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCGTCCACTGCCTCTTCAGGA	0.532																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1525-1527)gCc>gAc		family with sequence similarity 120A							58.0	52.0	54.0					9																	96291654		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96291654C>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1526C>A	9.37:g.96291654C>A	ENSP00000277165:p.Ala509Asp		Somatic				FAM120A_ENST00000333936.5_Missense_Mutation_p.A537D|FAM120A_ENST00000375389.3_Missense_Mutation_p.A509D|FAM120A_ENST00000340893.4_Missense_Mutation_p.A509D	p.A509D	NM_014612.3	NP_055427.2	WXS	Illumina GAIIx	Phase_I	Q9NZB2	F120A_HUMAN			9	1720	+			509					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.1526C>A	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.063898|3.063898	0.55432|0.55432	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893|ENST00000446420	T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.081475|.	0.52532|.	D|.	0.000071|.	T|T	0.54240|0.54240	0.1846|0.1846	L|L	0.29908|0.29908	0.895|0.895	0.42321|0.42321	D|D	0.992254|0.992254	B;P;B;B;D|.	0.53462|.	0.275;0.879;0.275;0.302;0.96|.	B;P;B;B;P|.	0.48795|.	0.149;0.572;0.161;0.068;0.59|.	T|T	0.50294|0.50294	-0.8845|-0.8845	10|5	0.13108|.	T|.	0.6|.	-13.5502|-13.5502	13.9144|13.9144	0.63887|0.63887	0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727	.|.	509;537;509;509;509|.	Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2|.	.;.;.;F120A_HUMAN;.|.	D|T	509;509;537;509|352	ENSP00000364538:A509D;ENSP00000277165:A509D;ENSP00000334918:A537D;ENSP00000344698:A509D|.	ENSP00000277165:A509D|.	A|P	+|+	2|1	0|0	FAM120A|FAM120A	95331475|95331475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.126000|4.126000	0.57937|0.57937	2.650000|2.650000	0.89964|0.89964	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.532	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		4	179	1	0	1	1	1	4	179				
NUCB2	4925	broad.mit.edu	37	11	17351711	17351711	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:17351711T>C	ENST00000529010.1	+	12	1259	c.1040T>C	c.(1039-1041)cTa>cCa	p.L347P	NUCB2_ENST00000458064.2_Missense_Mutation_p.L317P|NUCB2_ENST00000323688.6_Missense_Mutation_p.L347P	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	347	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.L347P(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGAAGAACTAAAAGAATAT	0.308																																						ENST00000529010.1																			1	Substitution - Missense(1)	p.L347P(1)	kidney(1)	kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1039-1041)cTa>cCa		nucleobindin 2							29.0	27.0	28.0					11																	17351711		1812	4069	5881	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17351711T>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.1040T>C	11.37:g.17351711T>C	ENSP00000436455:p.Leu347Pro		Somatic				NUCB2_ENST00000323688.6_Missense_Mutation_p.L347P|NUCB2_ENST00000458064.2_Missense_Mutation_p.L317P	p.L347P	NM_005013.2	NP_005004.1	WXS	Illumina GAIIx	Phase_I	P80303	NUCB2_HUMAN			12	1259	+			347			Binds to necdin (By similarity).		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.1040T>C	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360492	0.82353	.	.	ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064	T;T;T	0.26957	1.79;1.79;1.7	5.7	5.7	0.88788	.	0.052340	0.85682	D	0.000000	T	0.56761	0.2007	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64084	-0.6490	10	0.87932	D	0	-8.698	15.9645	0.79956	0.0:0.0:0.0:1.0	.	317;347	E7EV42;P80303	.;NUCB2_HUMAN	P	347;347;317	ENSP00000320168:L347P;ENSP00000436455:L347P;ENSP00000408702:L317P	ENSP00000320168:L347P	L	+	2	0	NUCB2	17308287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.150000	0.77403	2.174000	0.68829	0.533000	0.62120	CTA		0.308	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		31	47	0	0	0	1	0	31	47				
CUL9	23113	broad.mit.edu	37	6	43174057	43174057	+	Splice_Site	SNP	A	A	T	rs542758187	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:43174057A>T	ENST00000252050.4	+	26	5106		c.e26-1		CUL9_ENST00000372647.2_Splice_Site|CUL9_ENST00000354495.3_Splice_Site	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTCCCTCAGGAGGAAGAG	0.512																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.e26-1		cullin 9							68.0	69.0	69.0					6																	43174057		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43174057A>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5023-1A>T	6.37:g.43174057A>T			Somatic				CUL9_ENST00000372647.2_Splice_Site|CUL9_ENST00000354495.3_Splice_Site		NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			26	5106	+								O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	SNP	ENST00000252050.4	37		CCDS4890.1	.	.	.	.	.	.	.	.	.	.	A	9.898	1.206049	0.22205	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7966	0.18389	0.5844:0.1468:0.0:0.2688	.	.	.	.	.	-1	.	.	.	+	.	.	CUL9	43282035	0.993000	0.37304	0.979000	0.43373	0.457000	0.32468	3.219000	0.51200	1.951000	0.56629	0.533000	0.62120	.		0.512	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Intron	5	223	0	0	0	1	0	5	223				
SLC29A1	2030	broad.mit.edu	37	6	44197380	44197380	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:44197380C>A	ENST00000393841.1	+	5	657	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	SLC29A1_ENST00000371755.3_Missense_Mutation_p.L56M|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L56M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L56M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L135M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L56M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	56					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CACTGCTGAACTGAGCAAGGA	0.552																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(166-168)Ctg>Atg		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						120.0	114.0	116.0					6																	44197380		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197380C>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.166C>A	6.37:g.44197380C>A	ENSP00000377424:p.Leu56Met		Somatic				SLC29A1_ENST00000371724.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L56M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L135M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L56M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L56M|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L56M	p.L56M	NM_001078177.1	NP_001071645.1	WXS	Illumina GAIIx	Phase_I	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	657	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		56					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.166C>A	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999426	0.35320	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.48	-9.84	0.00479	.	.	.	.	.	T	0.04227	0.0117	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.25521	0.083;0.128;0.064;0.002	B;B;B;B	0.23852	0.028;0.049;0.013;0.005	T	0.26883	-1.0090	9	0.34782	T	0.22	-0.331	1.2108	0.01904	0.4213:0.1128:0.2409:0.2249	.	56;75;135;56	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	M	75;56;135;56;56;56;56;56;56;56;56	ENSP00000377427:L56M;ENSP00000319152:L135M;ENSP00000392668:L56M;ENSP00000360820:L56M;ENSP00000360805:L56M;ENSP00000360796:L56M;ENSP00000377424:L56M;ENSP00000360789:L56M;ENSP00000360778:L56M;ENSP00000360773:L56M	ENSP00000319152:L135M	L	+	1	2	SLC29A1	44305358	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-0.928000	0.03980	-1.464000	0.01902	0.563000	0.77884	CTG		0.552	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			4	244	1	0	1	1	1	4	244				
ILDR2	387597	broad.mit.edu	37	1	166891960	166891960	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:166891960A>G	ENST00000271417.3	-	8	1136	c.1081T>C	c.(1081-1083)Ttc>Ctc	p.F361L	ILDR2_ENST00000529071.1_Missense_Mutation_p.F342L|ILDR2_ENST00000526687.1_Missense_Mutation_p.F253L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.F361L|ILDR2_ENST00000528703.1_Missense_Mutation_p.F302L|ILDR2_ENST00000525740.1_Missense_Mutation_p.F234L	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	361					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GACACAGGGAACTGCTTGCTT	0.532																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1081-1083)Ttc>Ctc		immunoglobulin-like domain containing receptor 2							168.0	162.0	164.0					1																	166891960		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166891960A>G	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1081T>C	1.37:g.166891960A>G	ENSP00000271417:p.Phe361Leu		Somatic				ILDR2_ENST00000526687.1_Missense_Mutation_p.F253L|ILDR2_ENST00000469934.2_Missense_Mutation_p.F361L|ILDR2_ENST00000525740.1_Missense_Mutation_p.F234L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.F342L|ILDR2_ENST00000528703.1_Missense_Mutation_p.F302L	p.F361L	NM_199351.2	NP_955383.1	WXS	Illumina GAIIx	Phase_I	Q71H61	ILDR2_HUMAN			8	1136	-			361						Missense_Mutation	SNP	ENST00000271417.3	37	c.1081T>C	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	A	5.901	0.350256	0.11182	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.71817	0.86;-0.6;0.8;0.88;-0.56;0.43	5.24	4.21	0.49690	.	0.220008	0.41712	N	0.000835	T	0.13243	0.0321	N	0.02391	-0.57	0.30152	N	0.803007	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.02654	T	1	.	3.1129	0.06365	0.4355:0.0:0.5645:0.0	.	361	Q71H61	ILDR2_HUMAN	L	361;234;361;342;253;302	ENSP00000271417:F361L;ENSP00000436120:F234L;ENSP00000437008:F361L;ENSP00000436882:F342L;ENSP00000434273:F253L;ENSP00000432750:F302L	ENSP00000271417:F361L	F	-	1	0	ILDR2	165158584	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.367000	0.52350	0.876000	0.35872	0.459000	0.35465	TTC		0.532	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		5	705	0	0	0	1	0	5	705				
SLC39A10	57181	broad.mit.edu	37	2	196571342	196571342	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:196571342T>C	ENST00000409086.3	+	4	1494	c.1219T>C	c.(1219-1221)Tgg>Cgg	p.W407R	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.W407R	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	407					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTCTACAGCCTGGATTTGTGG	0.338																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1219-1221)Tgg>Cgg		solute carrier family 39 (zinc transporter), member 10							158.0	142.0	147.0					2																	196571342		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196571342T>C		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1219T>C	2.37:g.196571342T>C	ENSP00000386766:p.Trp407Arg		Somatic				SLC39A10_ENST00000359634.5_Missense_Mutation_p.W407R|SLC39A10_ENST00000541054.1_5'UTR	p.W407R	NM_001127257.1	NP_001120729.1	WXS	Illumina GAIIx	Phase_I	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		4	1494	+			407					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1219T>C	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012928	0.75161	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.50548	0.74;0.74	4.74	4.74	0.60224	.	0.299915	0.40469	N	0.001096	T	0.72606	0.3481	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79293	-0.1863	10	0.87932	D	0	.	14.3905	0.66975	0.0:0.0:0.0:1.0	.	407	Q9ULF5	S39AA_HUMAN	R	407	ENSP00000386766:W407R;ENSP00000352655:W407R	ENSP00000352655:W407R	W	+	1	0	SLC39A10	196279587	1.000000	0.71417	0.921000	0.36526	0.861000	0.49209	7.774000	0.85478	2.000000	0.58554	0.383000	0.25322	TGG		0.338	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		3	121	0	0	0	1	0	3	121				
VSIG2	23584	broad.mit.edu	37	11	124617504	124617504	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124617504T>C	ENST00000326621.5	-	7	1011	c.911A>G	c.(910-912)aAg>aGg	p.K304R	RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	304						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAGGAACCCCTTGCTAGAATC	0.562																																						ENST00000326621.5																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(910-912)aAg>aGg		V-set and immunoglobulin domain containing 2							102.0	89.0	93.0					11																	124617504		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124617504T>C	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.911A>G	11.37:g.124617504T>C	ENSP00000318684:p.Lys304Arg		Somatic				NRGN_ENST00000526916.2_3'UTR	p.K304R	NM_014312.3	NP_055127.2	WXS	Illumina GAIIx	Phase_I	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	7	1011	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	304					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.911A>G	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	T	7.541	0.660645	0.14645	.	.	ENSG00000019102	ENST00000326621	T	0.73469	-0.75	5.35	-6.02	0.02192	.	1.976360	0.01780	N	0.031710	T	0.59266	0.2181	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31251	-0.9950	10	0.26408	T	0.33	.	1.6784	0.02827	0.2792:0.3816:0.1338:0.2055	.	304	Q96IQ7	VSIG2_HUMAN	R	304	ENSP00000318684:K304R	ENSP00000318684:K304R	K	-	2	0	VSIG2	124122714	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.977000	0.03782	-0.729000	0.04875	-0.451000	0.05528	AAG		0.562	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		7	720	0	0	0	1	0	7	720				
ACKR1	2532	broad.mit.edu	37	1	159176167	159176167	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159176167G>A	ENST00000368122.2	+	2	1617	c.938G>A	c.(937-939)cGc>cAc	p.R313H	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.R313H|DARC_ENST00000368121.2_Missense_Mutation_p.R315H	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		313					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CAGGCCACCCGCACCCTCTTG	0.582																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(937-939)cGc>cAc		Duffy blood group, atypical chemokine receptor							205.0	223.0	217.0					1																	159176167		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176167G>A																												ENST00000368122.2:c.938G>A	1.37:g.159176167G>A	ENSP00000357104:p.Arg313His		Somatic				DARC_ENST00000368121.2_Missense_Mutation_p.R315H|DARC_ENST00000368122.2_Missense_Mutation_p.R313H	p.R313H			WXS	Illumina GAIIx	Phase_I	Q16570	DUFFY_HUMAN			3	1781	+	all_hematologic(112;0.0429)		313					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.938G>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	3.611	-0.079643	0.07141	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.39592	1.07;1.07;1.07	5.27	-0.662	0.11413	.	.	.	.	.	T	0.08492	0.0211	N	0.25890	0.77	0.09310	N	1	B;B	0.24043	0.096;0.096	B;B	0.14578	0.011;0.011	T	0.30297	-0.9983	9	0.26408	T	0.33	-24.901	3.6754	0.08290	0.4439:0.0:0.3859:0.1702	.	315;313	Q5Y7A1;Q16570	.;DUFFY_HUMAN	H	313;313;313;315	ENSP00000357104:R313H;ENSP00000441985:R313H;ENSP00000357103:R315H	ENSP00000352341:R313H	R	+	2	0	DARC	157442791	0.000000	0.05858	0.008000	0.14137	0.126000	0.20510	0.326000	0.19646	-0.008000	0.14320	0.563000	0.77884	CGC		0.582	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			14	2419	0	0	0	1	0	14	2419				
ERCC6L2	375748	broad.mit.edu	37	9	98643423	98643423	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:98643423A>T	ENST00000288985.7	+	2	657	c.352A>T	c.(352-354)Aaa>Taa	p.K118*	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	118					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGTTGCTTTTAAATTATCTGA	0.338																																						ENST00000288985.7																			0											c.(352-354)Aaa>Taa		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							60.0	62.0	61.0					9																	98643423		2203	4300	6503	SO:0001587	stop_gained	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98643423A>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.352A>T	9.37:g.98643423A>T	ENSP00000288985:p.Lys118*		Somatic				ERCC6L2_ENST00000466840.1_3'UTR	p.K118*	NM_001010895.2	NP_001010895.1	WXS	Illumina GAIIx	Phase_I	Q5T890	RAD26_HUMAN			2	657	+			118					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	ENST00000288985.7	37	c.352A>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	A	38	6.873399	0.97901	.	.	ENSG00000182150	ENST00000288985	.	.	.	5.01	1.48	0.22813	.	0.915143	0.09123	N	0.845419	.	.	.	.	.	.	0.41562	D	0.988635	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.621	16.9898	0.86350	0.2543:0.7457:0.0:0.0	.	.	.	.	X	118	.	ENSP00000288985:K118X	K	+	1	0	C9orf102	97683244	0.580000	0.26733	0.948000	0.38648	0.968000	0.65278	0.116000	0.15561	0.179000	0.19938	0.477000	0.44152	AAA		0.338	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		5	91	0	0	0	1	0	5	91				
CCDC180	100499483	broad.mit.edu	37	9	100124679	100124679	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:100124679T>A	ENST00000357054.1	+	40	4727	c.3792T>A	c.(3790-3792)tcT>tcA	p.S1264S	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Silent_p.S1330S|CCDC180_ENST00000375202.2_Silent_p.S1330S|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1264						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAGAAAACTCTGGGAAGAAGG	0.607																																						ENST00000375202.2																			0											c.(3988-3990)tcT>tcA		coiled-coil domain containing 180							136.0	135.0	136.0					9																	100124679		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100124679T>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3792T>A	9.37:g.100124679T>A			Somatic				CCDC180_ENST00000357054.1_Silent_p.S1264S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Silent_p.S1330S	p.S1330S			WXS	Illumina GAIIx	Phase_I					42	5342	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.3990T>A																																																																																					0.607	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	372	0	0	0	1	0	4	372				
EPHB4	2050	broad.mit.edu	37	7	100416207	100416207	+	Missense_Mutation	SNP	C	C	T	rs138234752	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100416207C>T	ENST00000358173.3	-	7	1825	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	EPHB4_ENST00000360620.3_Missense_Mutation_p.A453T|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACAGCCCAGGCCAGGCTCAAG	0.627																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1357-1359)Gcc>Acc		EPH receptor B4		C	THR/ALA	0,4406		0,0,2203	58.0	52.0	54.0		1357	1.8	1.0	7	dbSNP_134	54	3,8597	3.0+/-9.4	0,3,4297	no	missense	EPHB4	NM_004444.4	58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	453/988	100416207	3,13003	2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100416207C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1357G>A	7.37:g.100416207C>T	ENSP00000350896:p.Ala453Thr		Somatic				EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A453T	p.A453T	NM_004444.4	NP_004435.3	WXS	Illumina GAIIx	Phase_I	P54760	EPHB4_HUMAN			7	1825	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		453			Fibronectin type-III 2.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1357G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771765	0.49680	0.0	3.49E-4	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.55234	0.53;0.53	5.49	1.81	0.25067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549654	0.16554	N	0.209349	T	0.24470	0.0593	N	0.04245	-0.25	0.23773	N	0.996885	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.09377	0.003;0.001;0.004	T	0.12837	-1.0532	10	0.56958	D	0.05	.	2.5575	0.04764	0.3261:0.4133:0.0:0.2605	.	453;453;453	B5A970;Q96L35;P54760	.;.;EPHB4_HUMAN	T	453	ENSP00000353833:A453T;ENSP00000350896:A453T	ENSP00000350896:A453T	A	-	1	0	EPHB4	100254143	0.775000	0.28604	0.968000	0.41197	0.991000	0.79684	0.040000	0.13905	0.485000	0.27652	0.655000	0.94253	GCC		0.627	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		3	97	0	0	0	1	0	3	97				
IGHG1	3500	broad.mit.edu	37	14	106208039	106208039	+	RNA	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:106208039A>G	ENST00000390548.2	-	0	763							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GCTGGGATAGAAGCCTTTGAC	0.622																																						ENST00000390548.2																			0																				164.0	125.0	138.0					14																	106208039		2015	4147	6162			3500							g.chr14:106208039A>G	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208039A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	763	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.622	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		4	335	0	0	0	1	0	4	335				
FREM1	158326	broad.mit.edu	37	9	14846003	14846003	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14846003G>A	ENST00000380880.3	-	8	2131	c.1348C>T	c.(1348-1350)Cta>Tta	p.L450L	FREM1_ENST00000380881.4_Silent_p.L451L|FREM1_ENST00000422223.2_Silent_p.L450L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	450					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.L451L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACGGTGACTAGCCGGACAGCA	0.473																																						ENST00000380881.4																			1	Substitution - coding silent(1)	p.L451L(1)	kidney(1)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1351-1353)Cta>Tta		FRAS1 related extracellular matrix 1							56.0	61.0	59.0					9																	14846003		2098	4234	6332	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14846003G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1348C>T	9.37:g.14846003G>A			Somatic				FREM1_ENST00000380880.3_Silent_p.L450L|FREM1_ENST00000422223.2_Silent_p.L450L	p.L451L			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	9	2166	-			450					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.1351C>T	CCDS47952.1																																																																																				0.473	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		30	32	0	0	0	1	0	30	32				
PCDHA6	56142	broad.mit.edu	37	5	140209828	140209828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140209828T>C	ENST00000529310.1	+	1	2266	c.2152T>C	c.(2152-2154)Tac>Cac	p.Y718H	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	718					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y718H(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTGCTGTACACAGCGCT	0.692																																						ENST00000529310.1																			2	Substitution - Missense(2)	p.Y718H(2)	kidney(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2152-2154)Tac>Cac									53.0	52.0	52.0					5																	140209828		2202	4298	6500	SO:0001583	missense	56142							g.chr5:140209828T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2152T>C	5.37:g.140209828T>C	ENSP00000433378:p.Tyr718His		Somatic				PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.Y718H	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2266	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2152T>C	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920883	0.33908	.	.	ENSG00000081842	ENST00000529310	T	0.21031	2.03	4.12	4.12	0.48240	.	0.243428	0.20999	U	0.081887	T	0.54806	0.1881	H	0.95365	3.66	0.36730	D	0.881665	P;D	0.71674	0.744;0.998	P;D	0.63033	0.485;0.91	T	0.73652	-0.3915	10	0.59425	D	0.04	.	13.2741	0.60178	0.0:0.0:0.0:1.0	.	718;718	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	H	718	ENSP00000433378:Y718H	ENSP00000433378:Y718H	Y	+	1	0	PCDHA6	140190012	0.025000	0.19082	0.879000	0.34478	0.055000	0.15305	1.877000	0.39598	1.868000	0.54150	0.254000	0.18369	TAC		0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		21	46	0	0	0	1	0	21	46				
ZBED9	114821	broad.mit.edu	37	6	28543670	28543670	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:28543670C>T	ENST00000452236.2	-	3	1429	c.812G>A	c.(811-813)cGt>cAt	p.R271H	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGCCAAGCGACGGTAGTCAAC	0.353																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(811-813)cGt>cAt		SCAN domain containing 3							200.0	193.0	196.0					6																	28543670		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543670C>T																												ENST00000452236.2:c.812G>A	6.37:g.28543670C>T	ENSP00000395259:p.Arg271His		Somatic					p.R271H	NM_052923.1	NP_443155.1	WXS	Illumina GAIIx	Phase_I	Q6R2W3	SCND3_HUMAN			3	1429	-			271						Missense_Mutation	SNP	ENST00000452236.2	37	c.812G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217799	0.58560	.	.	ENSG00000232040	ENST00000452236	T	0.01725	4.67	2.46	1.59	0.23543	.	.	.	.	.	T	0.00552	0.0018	L	0.29908	0.895	0.22446	N	0.999091	B	0.06786	0.001	B	0.04013	0.001	T	0.47235	-0.9133	9	0.56958	D	0.05	.	5.1268	0.14888	0.0:0.8323:0.0:0.1677	.	271	Q6R2W3	SCND3_HUMAN	H	271	ENSP00000395259:R271H	ENSP00000395259:R271H	R	-	2	0	SCAND3	28651649	0.949000	0.32298	0.999000	0.59377	0.998000	0.95712	0.135000	0.15952	0.604000	0.29930	0.585000	0.79938	CGT		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			7	188	0	0	0	1	0	7	188				
SBF2	81846	broad.mit.edu	37	11	9878128	9878128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:9878128G>A	ENST00000256190.8	-	19	2377	c.2240C>T	c.(2239-2241)gCc>gTc	p.A747V	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	747					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAAGTGAATGGCCTGACTAAA	0.507																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2239-2241)gCc>gTc		SET binding factor 2							235.0	199.0	211.0					11																	9878128		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9878128G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2240C>T	11.37:g.9878128G>A	ENSP00000256190:p.Ala747Val		Somatic				RP11-1H15.2_ENST00000533659.1_RNA	p.A747V	NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	19	2377	-			747					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2240C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	g	35	5.451257	0.96205	.	.	ENSG00000133812	ENST00000256190	T	0.55052	0.54	5.29	5.29	0.74685	.	0.318902	0.36703	N	0.002441	T	0.77711	0.4171	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81389	-0.0955	10	0.72032	D	0.01	.	19.2897	0.94093	0.0:0.0:1.0:0.0	.	747	Q86WG5	MTMRD_HUMAN	V	747	ENSP00000256190:A747V	ENSP00000256190:A747V	A	-	2	0	SBF2	9834704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.810000	0.99221	2.632000	0.89209	0.556000	0.70494	GCC		0.507	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		12	714	0	0	0	1	0	12	714				
DHX8	1659	broad.mit.edu	37	17	41597544	41597544	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41597544C>T	ENST00000262415.3	+	19	2918	c.2846C>T	c.(2845-2847)cCa>cTa	p.P949L	DHX8_ENST00000540306.1_Missense_Mutation_p.P949L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	949					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGGATGCCCCACCTATGGAA	0.542											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2845-2847)cCa>cTa		DEAH (Asp-Glu-Ala-His) box polypeptide 8							140.0	124.0	130.0					17																	41597544		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41597544C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2846C>T	17.37:g.41597544C>T	ENSP00000262415:p.Pro949Leu		Somatic	OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	DHX8_ENST00000540306.1_Missense_Mutation_p.P949L	p.P949L	NM_004941.1	NP_004932.1	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	19	2918	+		Breast(137;0.00908)	949						Missense_Mutation	SNP	ENST00000262415.3	37	c.2846C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155496	0.94686	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03301	3.98;3.98	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58962	-0.7543	10	0.87932	D	0	.	19.0419	0.93004	0.0:1.0:0.0:0.0	.	949;949	F5H658;Q14562	.;DHX8_HUMAN	L	949	ENSP00000437886:P949L;ENSP00000262415:P949L	ENSP00000262415:P949L	P	+	2	0	DHX8	38953070	1.000000	0.71417	0.989000	0.46669	0.982000	0.71751	7.659000	0.83766	2.758000	0.94735	0.561000	0.74099	CCA		0.542	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			5	416	0	0	0	1	0	5	416				
NEK1	4750	broad.mit.edu	37	4	170523663	170523663	+	Splice_Site	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:170523663A>G	ENST00000439128.2	-	2	758		c.e2+1		NEK1_ENST00000511633.1_Splice_Site|NEK1_ENST00000510533.1_Splice_Site|NEK1_ENST00000507142.1_Splice_Site|NEK1_ENST00000512193.1_Splice_Site	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1						cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATATACTTACTCTTGAGAT	0.299																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.e2+1		NIMA-related kinase 1							100.0	98.0	99.0					4																	170523663		1810	4064	5874	SO:0001630	splice_region_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170523663A>G	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.117+1T>C	4.37:g.170523663A>G			Somatic				NEK1_ENST00000510533.1_Splice_Site|NEK1_ENST00000512193.1_Splice_Site|NEK1_ENST00000507142.1_Splice_Site|NEK1_ENST00000511633.1_Splice_Site		NM_012224.2	NP_036356.1	WXS	Illumina GAIIx	Phase_I	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	2	758	-		Prostate(90;0.00601)|Renal(120;0.0183)						G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Splice_Site	SNP	ENST00000439128.2	37		CCDS47162.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154396	0.78114	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9309	0.79659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK1	170760238	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.182000	0.58310	2.244000	0.73946	0.472000	0.43445	.		0.299	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		Intron	3	62	0	0	0	1	0	3	62				
MYH7	4625	broad.mit.edu	37	14	23888811	23888811	+	Missense_Mutation	SNP	A	A	G	rs397516192		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23888811A>G	ENST00000355349.3	-	28	3896	c.3734T>C	c.(3733-3735)cTg>cCg	p.L1245P	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1245					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATCTTCTCCAGGTTAGCCTG	0.562																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3733-3735)cTg>cCg		myosin, heavy chain 7, cardiac muscle, beta							105.0	103.0	104.0					14																	23888811		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23888811A>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3734T>C	14.37:g.23888811A>G	ENSP00000347507:p.Leu1245Pro		Somatic					p.L1245P	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	28	3896	-	all_cancers(95;2.54e-05)		1245					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3734T>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329232	0.81690	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.85411	-1.98	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.92502	0.7619	M	0.89214	3.015	0.80722	D	1	P	0.45569	0.861	P	0.59424	0.857	D	0.93420	0.6776	9	0.56958	D	0.05	.	14.8652	0.70409	1.0:0.0:0.0:0.0	.	1245	P12883	MYH7_HUMAN	P	1245;1250	ENSP00000347507:L1245P	ENSP00000347507:L1245P	L	-	2	0	MYH7	22958651	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.104000	0.64026	0.533000	0.62120	CTG		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		9	769	0	0	0	1	0	9	769				
ZNF546	339327	broad.mit.edu	37	19	40520041	40520041	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:40520041T>A	ENST00000347077.4	+	7	1080	c.864T>A	c.(862-864)ctT>ctA	p.L288L	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.L262L	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTATCACCTTACTGAACATC	0.438																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(862-864)ctT>ctA		zinc finger protein 546							103.0	102.0	102.0					19																	40520041		2203	4300	6503	SO:0001819	synonymous_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520041T>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.864T>A	19.37:g.40520041T>A			Somatic				ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.L262L	p.L288L	NM_178544.3	NP_848639.2	WXS	Illumina GAIIx	Phase_I	Q86UE3	ZN546_HUMAN			7	1080	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		288					A8K913	Silent	SNP	ENST00000347077.4	37	c.864T>A	CCDS12548.1																																																																																				0.438	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		6	304	0	0	0	1	0	6	304				
SLC4A4	8671	broad.mit.edu	37	4	72412153	72412153	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:72412153T>C	ENST00000264485.5	+	19	2646	c.2529T>C	c.(2527-2529)gcT>gcC	p.A843A	SLC4A4_ENST00000340595.3_Silent_p.A799A|SLC4A4_ENST00000425175.1_Silent_p.A843A|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	843			A -> V (in pRTA-OA; altered function). {ECO:0000269|PubMed:15930088}.		bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGTATGTAGCTGCTACGGTCA	0.473																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2395-2397)gcT>gcC		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							232.0	179.0	197.0					4																	72412153		2203	4299	6502	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72412153T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2529T>C	4.37:g.72412153T>C			Somatic				SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Silent_p.A843A|SLC4A4_ENST00000264485.5_Silent_p.A843A	p.A799A	NM_003759.3	NP_003750.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		16	2593	+			843	Q -> R (in Ref. 4; AAG47773).				C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2397T>C	CCDS43236.1																																																																																				0.473	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		5	303	0	0	0	1	0	5	303				
AGO4	192670	broad.mit.edu	37	1	36316462	36316462	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:36316462G>A	ENST00000373210.3	+	17	2530	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	762	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										CAGGGAACCAGCCGTCCCTCA	0.403																																						ENST00000373210.3																			0											c.(2284-2286)aGc>aAc		argonaute RISC catalytic component 4							96.0	85.0	88.0					1																	36316462		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36316462G>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2285G>A	1.37:g.36316462G>A	ENSP00000362306:p.Ser762Asn		Somatic				AGO4_ENST00000488778.1_3'UTR	p.S762N	NM_017629.3	NP_060099.2	WXS	Illumina GAIIx	Phase_I					17	2530	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.2285G>A	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446463	0.84101	.	.	ENSG00000134698	ENST00000373210	T	0.33654	1.4	5.22	5.22	0.72569	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80276	-0.1450	10	0.87932	D	0	-11.9727	18.7904	0.91971	0.0:0.0:1.0:0.0	.	762	Q9HCK5	AGO4_HUMAN	N	762	ENSP00000362306:S762N	ENSP00000362306:S762N	S	+	2	0	EIF2C4	36089049	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.864000	0.99589	2.417000	0.82017	0.591000	0.81541	AGC		0.403	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		4	359	0	0	0	1	0	4	359				
ZNF827	152485	broad.mit.edu	37	4	146824346	146824346	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:146824346G>A	ENST00000508784.1	-	2	292	c.65C>T	c.(64-66)gCg>gTg	p.A22V	ZNF827_ENST00000379448.4_Missense_Mutation_p.A22V|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTCTCCCTCCGCCTCTTCCTG	0.453																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(64-66)gCg>gTg		zinc finger protein 827							58.0	61.0	60.0					4																	146824346		2200	4300	6500	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824346G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.65C>T	4.37:g.146824346G>A	ENSP00000421863:p.Ala22Val		Somatic				ZNF827_ENST00000379448.4_Missense_Mutation_p.A22V|ZNF827_ENST00000513320.1_Intron	p.A22V			WXS	Illumina GAIIx	Phase_I	Q17R98	ZN827_HUMAN			2	292	-	all_hematologic(180;0.151)		22					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.65C>T		.	.	.	.	.	.	.	.	.	.	G	8.211	0.800380	0.16397	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.06608	3.28;3.31	5.37	3.63	0.41609	.	0.162822	0.53938	D	0.000047	T	0.02380	0.0073	N	0.02539	-0.55	0.33733	D	0.618448	B;B	0.12630	0.003;0.006	B;B	0.06405	0.001;0.002	T	0.33163	-0.9879	10	0.30078	T	0.28	-9.586	5.8045	0.18432	0.2331:0.1459:0.6209:0.0	.	22;22	Q17R98;Q17R98-2	ZN827_HUMAN;.	V	22;22;21	ENSP00000421863:A22V;ENSP00000368761:A22V	ENSP00000281318:A21V	A	-	2	0	ZNF827	147043796	0.983000	0.35010	0.985000	0.45067	0.980000	0.70556	2.191000	0.42640	0.633000	0.30452	-0.258000	0.10820	GCG		0.453	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		6	350	0	0	0	1	0	6	350				
ZC3H14	79882	broad.mit.edu	37	14	89068354	89068354	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:89068354G>A	ENST00000251038.5	+	11	1666	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	ZC3H14_ENST00000555900.1_Missense_Mutation_p.A183T|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.A456T|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.A481T	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	481						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTAGTAGTGGCACCAAACCA	0.438																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1441-1443)Gca>Aca		zinc finger CCCH-type containing 14							178.0	168.0	171.0					14																	89068354		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89068354G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1441G>A	14.37:g.89068354G>A	ENSP00000251038:p.Ala481Thr		Somatic				ZC3H14_ENST00000555900.1_Missense_Mutation_p.A183T|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.A481T|ZC3H14_ENST00000393514.5_Missense_Mutation_p.A456T|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron	p.A481T	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	WXS	Illumina GAIIx	Phase_I	Q6PJT7	ZC3HE_HUMAN			11	1666	+			481					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1441G>A	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.37|12.37	1.916464|1.916464	0.33815|0.33815	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000555755;ENST00000393514;ENST00000555900;ENST00000557737|ENST00000556000	.|.	.|.	.|.	5.96|5.96	-2.32|-2.32	0.06745|0.06745	.|.	0.512627|.	0.22449|.	N|.	0.059904|.	T|.	0.21841|.	0.0526|.	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|.	0.11717|.	-1.0576|.	9|.	0.14252|.	T|.	0.57|.	-3.0973|-3.0973	2.3812|2.3812	0.04355|0.04355	0.3575:0.2644:0.2815:0.0966|0.3575:0.2644:0.2815:0.0966	.|.	481;481;481|.	G3V5R4;Q6PJT7-2;Q6PJT7|.	.;.;ZC3HE_HUMAN|.	T|X	481;456;481;481;456;183;158|396	.|.	ENSP00000251038:A481T|.	A|W	+|+	1|3	0|0	ZC3H14|ZC3H14	88138107|88138107	0.978000|0.978000	0.34361|0.34361	0.994000|0.994000	0.49952|0.49952	0.988000|0.988000	0.76386|0.76386	0.013000|0.013000	0.13310|0.13310	-0.088000|-0.088000	0.12506|0.12506	-0.266000|-0.266000	0.10368|0.10368	GCA|TGG		0.438	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		7	844	0	0	0	1	0	7	844				
FAM83G	644815	broad.mit.edu	37	17	18891720	18891720	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18891720G>A	ENST00000388995.6	-	3	753	c.530C>T	c.(529-531)gCt>gTt	p.A177V	FAM83G_ENST00000345041.4_Missense_Mutation_p.A177V|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A177V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	177					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATGACCACAGCTATCACCTG	0.587																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(529-531)gCt>gTt		family with sequence similarity 83, member G							81.0	82.0	82.0					17																	18891720		2133	4239	6372	SO:0001583	missense	644815							g.chr17:18891720G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.530C>T	17.37:g.18891720G>A	ENSP00000373647:p.Ala177Val		Somatic				SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A177V|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A177V|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron	p.A177V			WXS	Illumina GAIIx	Phase_I	A6ND36	FA83G_HUMAN			3	753	-			177					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.530C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303428	0.60195	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.22945	1.93;1.93	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	M	0.85630	2.765	0.80722	D	1	P	0.48998	0.918	P	0.54759	0.76	T	0.60016	-0.7345	10	0.87932	D	0	-10.1457	18.857	0.92257	0.0:0.0:1.0:0.0	.	177	A6ND36	FA83G_HUMAN	V	177	ENSP00000373647:A177V;ENSP00000343279:A177V	ENSP00000343279:A177V	A	-	2	0	FAM83G	18832445	1.000000	0.71417	0.962000	0.40283	0.962000	0.63368	6.567000	0.73983	2.475000	0.83589	0.591000	0.81541	GCT		0.587	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			4	361	0	0	0	1	0	4	361				
NOXA1	10811	broad.mit.edu	37	9	140323382	140323382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:140323382G>T	ENST00000341349.2	+	4	598	c.418G>T	c.(418-420)Gag>Tag	p.E140*	NOXA1_ENST00000392815.2_Nonsense_Mutation_p.E140*	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	140	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GCTCTGGACAGAGGCGGCCAG	0.667																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(418-420)Gag>Tag		NADPH oxidase activator 1							24.0	26.0	25.0					9																	140323382		2184	4292	6476	SO:0001587	stop_gained	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140323382G>T	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"""serologically defined colon cancer antigen 31"""	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.418G>T	9.37:g.140323382G>T	ENSP00000342848:p.Glu140*		Somatic				NOXA1_ENST00000392815.2_Nonsense_Mutation_p.E140*	p.E140*	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	WXS	Illumina GAIIx	Phase_I	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	4	598	+	all_cancers(76;0.0926)		140			Mediates interaction with RAC1.		O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Nonsense_Mutation	SNP	ENST00000341349.2	37	c.418G>T	CCDS7042.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522993	0.85600	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	.	.	.	4.26	3.34	0.38264	.	0.281820	0.36303	N	0.002678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2801	0.26306	0.1309:0.0:0.8691:0.0	.	.	.	.	X	140	.	ENSP00000342848:E140X	E	+	1	0	NOXA1	139443203	0.835000	0.29415	0.588000	0.28705	0.332000	0.28634	1.124000	0.31320	0.742000	0.32697	0.484000	0.47621	GAG		0.667	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			2	0	1	0	2.56e-06	1	2.77333e-06	2	0				
SLC1A3	6507	broad.mit.edu	37	5	36686317	36686317	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:36686317G>A	ENST00000265113.4	+	10	2051	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	SLC1A3_ENST00000381918.3_Silent_p.L480L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	525					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATCAACTGATTGCACAGG	0.393																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(1573-1575)ctG>ctA		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						152.0	153.0	152.0					5																	36686317		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36686317G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1575G>A	5.37:g.36686317G>A			Somatic				SLC1A3_ENST00000381918.3_Silent_p.L480L|CTD-2353F22.1_ENST00000510740.1_RNA	p.L525L	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	2051	+	all_lung(31;0.000245)		525					B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.1575G>A	CCDS3919.1																																																																																				0.393	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		7	464	0	0	0	1	0	7	464				
DHX30	22907	broad.mit.edu	37	3	47870598	47870598	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47870598G>A	ENST00000445061.1	+	6	747	c.340G>A	c.(340-342)Gca>Aca	p.A114T	DHX30_ENST00000457607.1_Missense_Mutation_p.A142T|DHX30_ENST00000348968.4_Missense_Mutation_p.A86T|DHX30_ENST00000446256.2_Missense_Mutation_p.A75T	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	114	DRBM.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCGGCAGGCTGCAGCTGCAGC	0.527																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(223-225)Gca>Aca		DEAH (Asp-Glu-Ala-His) box helicase 30							25.0	25.0	25.0					3																	47870598		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47870598G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.340G>A	3.37:g.47870598G>A	ENSP00000405620:p.Ala114Thr		Somatic				DHX30_ENST00000348968.4_Missense_Mutation_p.A86T|DHX30_ENST00000457607.1_Missense_Mutation_p.A142T|DHX30_ENST00000445061.1_Missense_Mutation_p.A114T	p.A75T	NM_014966.3	NP_055781.2	WXS	Illumina GAIIx	Phase_I	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	795	+			114			DRBM.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.223G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712591	0.89112	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.07688	3.25;3.22;3.25;3.17	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	L	0.61218	1.895	0.58432	D	0.999999	D;D;D	0.56968	0.978;0.963;0.963	D;D;D	0.76071	0.971;0.987;0.987	T	0.00341	-1.1804	10	0.72032	D	0.01	.	16.0035	0.80327	0.0:0.0:1.0:0.0	.	114;75;142	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	T	75;114;86;142	ENSP00000392601:A75T;ENSP00000405620:A114T;ENSP00000343442:A86T;ENSP00000394682:A142T	ENSP00000343442:A86T	A	+	1	0	DHX30	47845602	1.000000	0.71417	0.987000	0.45799	0.667000	0.39255	6.306000	0.72810	2.466000	0.83321	0.557000	0.71058	GCA		0.527	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		3	18	0	0	0	1	0	3	18				
SLC26A3	1811	broad.mit.edu	37	7	107434873	107434873	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:107434873T>C	ENST00000340010.5	-	2	266	c.82A>G	c.(82-84)Aca>Gca	p.T28A	SLC26A3_ENST00000422236.2_Silent_p.R9R	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	28					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTCTTCCTGTCTTTTTATGA	0.343																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(82-84)Aca>Gca		solute carrier family 26 (anion exchanger), member 3							206.0	189.0	195.0					7																	107434873		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107434873T>C	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.82A>G	7.37:g.107434873T>C	ENSP00000345873:p.Thr28Ala		Somatic				SLC26A3_ENST00000422236.2_Silent_p.R9R	p.T28A	NM_000111.2	NP_000102.1	WXS	Illumina GAIIx	Phase_I	P40879	S26A3_HUMAN			2	266	-			28						Missense_Mutation	SNP	ENST00000340010.5	37	c.82A>G	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	T	4.032	0.003506	0.07866	.	.	ENSG00000091138	ENST00000340010;ENST00000453332	D;D	0.92858	-3.12;-2.65	5.47	4.24	0.50183	.	0.646195	0.15720	N	0.247948	T	0.80778	0.4688	N	0.14661	0.345	0.48452	D	0.999653	B	0.06786	0.001	B	0.06405	0.002	T	0.73616	-0.3926	10	0.28530	T	0.3	.	1.9512	0.03367	0.2232:0.0831:0.1324:0.5614	.	28	P40879	S26A3_HUMAN	A	28	ENSP00000345873:T28A;ENSP00000395955:T28A	ENSP00000345873:T28A	T	-	1	0	SLC26A3	107222109	0.530000	0.26330	0.923000	0.36655	0.024000	0.10985	0.758000	0.26447	2.203000	0.70933	0.533000	0.62120	ACA		0.343	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		5	453	0	0	0	1	0	5	453				
ATG2A	23130	broad.mit.edu	37	11	64669525	64669525	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:64669525T>C	ENST00000377264.3	-	29	4140	c.4028A>G	c.(4027-4029)gAg>gGg	p.E1343G	ATG2A_ENST00000421419.2_Missense_Mutation_p.E1345G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1343					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATCTTCCTTCTCCTCTGAGCA	0.617																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(4033-4035)gAg>gGg		autophagy related 2A							146.0	136.0	139.0					11																	64669525		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64669525T>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4028A>G	11.37:g.64669525T>C	ENSP00000366475:p.Glu1343Gly		Somatic				ATG2A_ENST00000377264.3_Missense_Mutation_p.E1343G	p.E1345G			WXS	Illumina GAIIx	Phase_I	Q2TAZ0	ATG2A_HUMAN			29	4148	-			1343					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4034A>G	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	0.173	-1.069469	0.01918	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07444	3.19;3.19	4.54	-0.105	0.13601	.	1.727610	0.02906	N	0.136063	T	0.07908	0.0198	L	0.43923	1.385	0.18873	N	0.999984	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35425	-0.9789	10	0.23302	T	0.38	.	3.2	0.06646	0.099:0.1094:0.3874:0.4043	.	1343;1345	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	G	1345;1343	ENSP00000410522:E1345G;ENSP00000366475:E1343G	ENSP00000366475:E1343G	E	-	2	0	ATG2A	64426101	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.325000	0.19628	-0.195000	0.10382	-0.445000	0.05633	GAG		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		3	70	0	0	0	1	0	3	70				
RSRC2	65117	broad.mit.edu	37	12	123006692	123006692	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:123006692G>A	ENST00000331738.7	-	2	306	c.161C>T	c.(160-162)tCa>tTa	p.S54L	RSRC2_ENST00000354654.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	54	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTCATACCTGACTTTCGTTT	0.358																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(160-162)tCa>tTa		arginine/serine-rich coiled-coil 2							146.0	139.0	141.0					12																	123006692		2203	4299	6502	SO:0001583	missense	65117							g.chr12:123006692G>A	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.161C>T	12.37:g.123006692G>A	ENSP00000330188:p.Ser54Leu		Somatic				RSRC2_ENST00000354654.2_5'UTR	p.S54L	NM_023012.5	NP_075388.2	WXS	Illumina GAIIx	Phase_I	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	2	306	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		54			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.161C>T	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735135	0.69189	.	.	ENSG00000111011	ENST00000331738;ENST00000418773	T	0.16597	2.33	5.22	5.22	0.72569	.	0.379927	0.27691	N	0.018245	T	0.19644	0.0472	N	0.14661	0.345	0.80722	D	1	P;B	0.50710	0.938;0.176	P;B	0.52957	0.714;0.115	T	0.05616	-1.0874	10	0.26408	T	0.33	.	19.1367	0.93430	0.0:0.0:1.0:0.0	.	54;54	F5GXM2;Q7L4I2	.;RSRC2_HUMAN	L	54	ENSP00000330188:S54L	ENSP00000330188:S54L	S	-	2	0	RSRC2	121572645	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.980000	0.70516	2.607000	0.88179	0.557000	0.71058	TCA		0.358	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		3	75	0	0	0	1	0	3	75				
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898									ankyrin repeat domain 36B pseudogene 2																		AATTCAAATCATTGATTTCTG	0.289																																						ENST00000393525.3																			0																																																			645784							g.chr2:89104958A>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104958A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	4898	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.289	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	5	0	0	0	1	0	3	5				
SOX10	6663	broad.mit.edu	37	22	38373927	38373927	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:38373927C>T	ENST00000396884.2	-	3	926	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	SOX10_ENST00000470555.1_5'Flank|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.R215Q|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	215					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TCCTGGGTGCCGGTGGTCCAA	0.692																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	ENST00000396884.2																			0				NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20						c.(643-645)cGg>cAg		SRY (sex determining region Y)-box 10							41.0	43.0	42.0					22																	38373927		2203	4300	6503	SO:0001583	missense	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38373927C>T		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.644G>A	22.37:g.38373927C>T	ENSP00000380093:p.Arg215Gln		Somatic				SOX10_ENST00000360880.2_Missense_Mutation_p.R215Q|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	p.R215Q	NM_006941.3	NP_008872.1	WXS	Illumina GAIIx	Phase_I	P56693	SOX10_HUMAN			3	926	-	Melanoma(58;0.045)		215					B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	c.644G>A	CCDS13964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.253145|3.253145	0.59212|0.59212	.|.	.|.	ENSG00000100146|ENSG00000100146	ENST00000446929|ENST00000396884;ENST00000360880;ENST00000416937	.|D;D	.|0.98455	.|-4.94;-4.94	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	.|0.270587	.|0.34088	.|N	.|0.004271	D|D	0.96377|0.96377	0.8818|0.8818	L|L	0.47716|0.47716	1.5|1.5	0.47407|0.47407	D|D	0.999418|0.999418	.|P	.|0.50443	.|0.935	.|B	.|0.42653	.|0.394	D|D	0.95612|0.95612	0.8673|0.8673	5|10	.|0.24483	.|T	.|0.36	.|.	17.1076|17.1076	0.86668|0.86668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|215	.|P56693	.|SOX10_HUMAN	S|Q	92|215	.|ENSP00000380093:R215Q;ENSP00000354130:R215Q	.|ENSP00000354130:R215Q	G|R	-|-	1|2	0|0	SOX10|SOX10	36703873|36703873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.889000|3.889000	0.56212|0.56212	2.020000|2.020000	0.59435|0.59435	0.455000|0.455000	0.32223|0.32223	GGC|CGG		0.692	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		6	351	0	0	0	1	0	6	351				
OR5B12	390191	broad.mit.edu	37	11	58206970	58206970	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:58206970T>A	ENST00000302572.2	-	1	676	c.655A>T	c.(655-657)Ata>Tta	p.I219L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGATAAATATAAATAAGTAG	0.408																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(655-657)Ata>Tta		olfactory receptor, family 5, subfamily B, member 12							60.0	60.0	60.0					11																	58206970		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206970T>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.655A>T	11.37:g.58206970T>A	ENSP00000306657:p.Ile219Leu		Somatic					p.I219L	NM_001004733.2	NP_001004733.1	WXS	Illumina GAIIx	Phase_I	Q96R08	OR5BC_HUMAN			1	676	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	219					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.655A>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579816	0.46006	.	.	ENSG00000172362	ENST00000302572	T	0.00392	7.58	4.3	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.109660	0.40554	N	0.001066	T	0.00754	0.0025	H	0.94345	3.525	0.24829	N	0.992533	P	0.44877	0.845	P	0.50825	0.651	T	0.32025	-0.9922	10	0.87932	D	0	-4.276	5.3093	0.15821	0.1564:0.0878:0.0:0.7558	.	219	Q96R08	OR5BC_HUMAN	L	219	ENSP00000306657:I219L	ENSP00000306657:I219L	I	-	1	0	OR5B12	57963546	0.997000	0.39634	0.307000	0.25127	0.420000	0.31355	2.628000	0.46477	0.252000	0.21531	0.379000	0.24179	ATA		0.408	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		5	259	0	0	0	1	0	5	259				
NAV1	89796	broad.mit.edu	37	1	201777164	201777164	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:201777164T>A	ENST00000367296.4	+	18	4152	c.3732T>A	c.(3730-3732)gcT>gcA	p.A1244A	NAV1_ENST00000295624.6_Silent_p.A1241A|NAV1_ENST00000367295.1_Silent_p.A850A|NAV1_ENST00000367300.3_Silent_p.A1184A|NAV1_ENST00000367302.1_Silent_p.A1197A|MIR1231_ENST00000408101.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.A1236A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1244					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGGAGATTGCTACACCCGACT	0.502																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3730-3732)gcT>gcA		neuron navigator 1							130.0	131.0	131.0					1																	201777164		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201777164T>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3732T>A	1.37:g.201777164T>A			Somatic				NAV1_ENST00000367295.1_Silent_p.A850A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.A1184A|NAV1_ENST00000367302.1_Silent_p.A1197A|NAV1_ENST00000295624.6_Silent_p.A1241A|NAV1_ENST00000367297.4_Silent_p.A1236A	p.A1244A	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			18	4152	+			1244					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.3732T>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	t	10.63	1.403339	0.25291	.	.	ENSG00000134369	ENST00000438083	.	.	.	5.42	4.5	0.54988	.	.	.	.	.	T	0.60051	0.2239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57556	-0.7791	4	.	.	.	-32.1249	9.5711	0.39429	0.0:0.8349:0.0:0.1651	.	.	.	.	Q	224	.	.	L	+	2	0	NAV1	200043787	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.089000	0.41672	1.258000	0.44101	-0.488000	0.04728	CTA		0.502	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		25	284	0	0	0	1	0	25	284				
CHD3	1107	broad.mit.edu	37	17	7805978	7805978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7805978C>A	ENST00000330494.7	+	21	3453	c.3303C>A	c.(3301-3303)taC>taA	p.Y1101*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.Y1101*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.Y1160*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1101	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y1101*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGGCTACAAGTATGAGC	0.502																																						ENST00000380358.4																			1	Substitution - Nonsense(1)	p.Y1101*(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3478-3480)taC>taA		chromodomain helicase DNA binding protein 3							204.0	182.0	190.0					17																	7805978		2203	4300	6503	SO:0001587	stop_gained	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7805978C>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3303C>A	17.37:g.7805978C>A	ENSP00000332628:p.Tyr1101*		Somatic				CHD3_ENST00000330494.7_Nonsense_Mutation_p.Y1101*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.Y1101*	p.Y1160*	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			21	3481	+		Prostate(122;0.202)	1101			Helicase C-terminal.		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	c.3480C>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	36	5.945040	0.97134	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	4.53	2.49	0.30216	.	0.000000	0.36338	N	0.002655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9813	8.6862	0.34238	0.0:0.7598:0.0:0.2402	.	.	.	.	X	1160;1101;1101	.	ENSP00000332628:Y1101X	Y	+	3	2	CHD3	7746703	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	2.125000	0.42016	0.508000	0.28173	-0.448000	0.05591	TAC		0.502	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		48	1449	1	0	2.68265e-12	1	2.95546e-12	48	1449				
MYO18A	399687	broad.mit.edu	37	17	27419897	27419897	+	Silent	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27419897T>G	ENST00000527372.1	-	33	5229	c.5049A>C	c.(5047-5049)cgA>cgC	p.R1683R	MYO18A_ENST00000533112.1_Silent_p.R1646R|MYO18A_ENST00000529578.1_5'Flank|TIAF1_ENST00000408971.2_5'Flank|MYO18A_ENST00000531253.1_Silent_p.R1683R|MYO18A_ENST00000354329.4_Silent_p.R1683R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1683					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGCAATCTCTCGCTTGCTGG	0.572																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(5047-5049)cgA>cgC		myosin XVIIIA							152.0	168.0	162.0					17																	27419897		2183	4277	6460	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27419897T>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5049A>C	17.37:g.27419897T>G			Somatic				MYO18A_ENST00000354329.4_Silent_p.R1683R|MYO18A_ENST00000531253.1_Silent_p.R1683R|MYO18A_ENST00000533112.1_Silent_p.R1646R	p.R1683R	NM_078471.3	NP_510880.2	WXS	Illumina GAIIx	Phase_I	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		33	5229	-			1683					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.5049A>C	CCDS45642.1																																																																																				0.572	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		5	887	0	0	0	1	0	5	887				
OR51B5	282763	broad.mit.edu	37	11	5364136	5364136	+	Silent	SNP	G	G	A	rs140365125		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:5364136G>A	ENST00000300773.2	-	1	673	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	207					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATAATCCAGCACAAATATA	0.463																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(619-621)Ctg>Ttg		olfactory receptor, family 51, subfamily B, member 5							102.0	105.0	104.0					11																	5364136		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364136G>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.619C>T	11.37:g.5364136G>A			Somatic				AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.L207L	NM_001005567.2	NP_001005567.2	WXS	Illumina GAIIx	Phase_I	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	673	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	207					B2RN59	Silent	SNP	ENST00000300773.2	37	c.619C>T	CCDS31378.1																																																																																				0.463	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		4	294	0	0	0	1	0	4	294				
RGAG1	57529	broad.mit.edu	37	X	109694958	109694958	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:109694958G>A	ENST00000465301.2	+	3	1359	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	RGAG1_ENST00000540313.1_Silent_p.A371A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	371								p.A371A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCTCTGGGGCGATGTCCCCAT	0.557																																						ENST00000465301.2																			1	Substitution - coding silent(1)	p.A371A(1)	skin(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1111-1113)gcG>gcA		retrotransposon gag domain containing 1							191.0	192.0	192.0					X																	109694958		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694958G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1113G>A	X.37:g.109694958G>A			Somatic				RGAG1_ENST00000540313.1_Silent_p.A371A	p.A371A	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			3	1359	+			371					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1113G>A	CCDS14552.1																																																																																				0.557	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		8	963	0	0	0	1	0	8	963				
SLC5A5	6528	broad.mit.edu	37	19	17992783	17992783	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:17992783G>A	ENST00000222248.3	+	9	1420	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	358					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCATCCACCAGCATCAATGCT	0.587																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1072-1074)aGc>aAc		solute carrier family 5 (sodium/iodide cotransporter), member 5							63.0	61.0	62.0					19																	17992783		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17992783G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1073G>A	19.37:g.17992783G>A	ENSP00000222248:p.Ser358Asn		Somatic					p.S358N	NM_000453.2	NP_000444.1	WXS	Illumina GAIIx	Phase_I	Q92911	SC5A5_HUMAN			9	1420	+			358					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1073G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411653	0.62399	.	.	ENSG00000105641	ENST00000222248	D	0.87809	-2.3	4.36	4.36	0.52297	.	0.087650	0.85682	D	0.000000	D	0.90103	0.6908	M	0.64567	1.98	0.52501	D	0.999957	P	0.51791	0.948	P	0.58331	0.837	D	0.88313	0.2957	10	0.28530	T	0.3	.	14.4234	0.67200	0.0:0.0:1.0:0.0	.	358	Q92911	SC5A5_HUMAN	N	358	ENSP00000222248:S358N	ENSP00000222248:S358N	S	+	2	0	SLC5A5	17853783	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	4.070000	0.57548	2.277000	0.76020	0.561000	0.74099	AGC		0.587	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			3	99	0	0	0	1	0	3	99				
FUK	197258	broad.mit.edu	37	16	70500809	70500809	+	Missense_Mutation	SNP	G	G	A	rs17881323	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:70500809G>A	ENST00000288078.6	+	6	668	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	FUK_ENST00000428974.2_Missense_Mutation_p.V129M|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.V178M	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	146			V -> M (in dbSNP:rs17881323). {ECO:0000269|Ref.3}.			cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCCGCCAGGCGTGTGGGTCTG	0.637													G|||	4	0.000798722	0.0	0.0014	5008	,	,		18822	0.0		0.003	False		,,,				2504	0.0					ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(436-438)Gtg>Atg		fucokinase		G	MET/VAL	8,4040		0,8,2016	43.0	48.0	47.0		436	5.2	1.0	16	dbSNP_124	47	29,8307		1,27,4140	yes	missense	FUK	NM_145059.2	21	1,35,6156	AA,AG,GG		0.3479,0.1976,0.2988	probably-damaging	146/1085	70500809	37,12347	2024	4168	6192	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70500809G>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.436G>A	16.37:g.70500809G>A	ENSP00000288078:p.Val146Met		Somatic				FUK_ENST00000378912.2_Missense_Mutation_p.V178M|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.V129M	p.V146M	NM_145059.2	NP_659496.2	WXS	Illumina GAIIx	Phase_I	Q8N0W3	FUK_HUMAN			6	668	+		Ovarian(137;0.0694)	146		V -> M (in dbSNP:rs17881323).			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.436G>A	CCDS10891.2	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	22.6	4.315750	0.81469	0.001976	0.003479	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.38240	1.15;1.15;1.15	5.24	5.24	0.73138	L-fucokinase (1);	0.073354	0.53938	D	0.000047	T	0.61788	0.2375	M	0.70275	2.135	0.48762	D	0.999708	D;P;D	0.89917	0.984;0.908;1.0	P;B;D	0.97110	0.57;0.438;1.0	T	0.62955	-0.6744	10	0.56958	D	0.05	-20.5413	19.2028	0.93717	0.0:0.0:1.0:0.0	rs17881323;rs17881323	129;178;146	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	M	146;178;129	ENSP00000288078:V146M;ENSP00000368192:V178M;ENSP00000408007:V129M	ENSP00000288078:V146M	V	+	1	0	FUK	69058310	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.538000	0.67193	2.640000	0.89533	0.655000	0.94253	GTG		0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		9	77	0	0	0	1	0	9	77				
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.e4-1		actin related protein 2/3 complex, subunit 2, 34kDa							101.0	105.0	103.0					2																	219099073		2203	4299	6502	SO:0001630	splice_region_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099073A>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.223-1A>T	2.37:g.219099073A>T			Somatic				ARPC2_ENST00000315717.5_Splice_Site		NM_005731.2	NP_005722.1	WXS	Illumina GAIIx	Phase_I	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	483	+		Renal(207;0.0474)						Q92801|Q9P1D4	Splice_Site	SNP	ENST00000295685.10	37		CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758264	0.69763	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1728	0.65522	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC2	218807318	1.000000	0.71417	0.985000	0.45067	0.833000	0.47200	7.690000	0.84178	2.281000	0.76405	0.533000	0.62120	.		0.363	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	Intron	6	243	0	0	0	1	0	6	243				
EVPL	2125	broad.mit.edu	37	17	74004165	74004165	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:74004165G>T	ENST00000301607.3	-	22	5374	c.5121C>A	c.(5119-5121)atC>atA	p.I1707I	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.I1729I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1707	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCTGTCGATGATGCCCCTCT	0.617																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5119-5121)atC>atA		envoplakin							107.0	97.0	100.0					17																	74004165		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004165G>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5121C>A	17.37:g.74004165G>T			Somatic				EVPL_ENST00000586740.1_Silent_p.I1729I	p.I1707I	NM_001988.2	NP_001979.2	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			22	5374	-			1707			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5121C>A	CCDS11737.1																																																																																				0.617	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	496	1	0	0.000602214	1	0.000637062	5	496				
ARHGEF10	9639	broad.mit.edu	37	8	1857559	1857559	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:1857559C>G	ENST00000398564.1	+	18	2141	c.2141C>G	c.(2140-2142)gCa>gGa	p.A714G	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A713G|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A689G|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A714G|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A651G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	714					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGCAGCAGCGCAGGCACGGGC	0.602																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2137-2139)gCa>gGa		Rho guanine nucleotide exchange factor (GEF) 10							109.0	98.0	102.0					8																	1857559		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1857559C>G	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2141C>G	8.37:g.1857559C>G	ENSP00000381571:p.Ala714Gly		Somatic				ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A714G|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A689G|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A714G|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A651G	p.A713G			WXS	Illumina GAIIx	Phase_I	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2301	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	714					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2138C>G		.	.	.	.	.	.	.	.	.	.	C	1.534	-0.543583	0.04053	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.58652	0.34;0.33;0.33;0.33;0.32;0.39	5.07	2.71	0.32032	.	0.823432	0.10810	N	0.631734	T	0.36853	0.0982	N	0.13098	0.295	0.29677	N	0.841977	B;B;B	0.16396	0.017;0.002;0.0	B;B;B	0.16289	0.015;0.002;0.004	T	0.22765	-1.0207	10	0.07644	T	0.81	0.0134	11.4353	0.50064	0.5563:0.4437:0.0:0.0	.	714;651;689	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	G	689;651;713;714;714;362	ENSP00000340297:A689G;ENSP00000427909:A651G;ENSP00000431012:A713G;ENSP00000381571:A714G;ENSP00000262112:A714G;ENSP00000427768:A362G	ENSP00000262112:A714G	A	+	2	0	ARHGEF10	1844966	0.982000	0.34865	0.000000	0.03702	0.000000	0.00434	3.625000	0.54238	0.328000	0.23435	-0.280000	0.10049	GCA		0.602	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				4	280	0	0	0	1	0	4	280				
SLC22A9	114571	broad.mit.edu	37	11	63137720	63137720	+	Silent	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:63137720T>G	ENST00000279178.3	+	1	441	c.192T>G	c.(190-192)acT>acG	p.T64T	SLC22A9_ENST00000310969.4_Silent_p.T64T	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	64					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACAATGACACTGGGGCCCTCA	0.512																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(190-192)acT>acG		solute carrier family 22 (organic anion transporter), member 9							157.0	147.0	150.0					11																	63137720		2201	4298	6499	SO:0001819	synonymous_variant	114571				transmembrane transport	integral to membrane		g.chr11:63137720T>G	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.192T>G	11.37:g.63137720T>G			Somatic				SLC22A9_ENST00000310969.4_Silent_p.T64T	p.T64T	NM_080866.2	NP_543142.2	WXS	Illumina GAIIx	Phase_I	Q8IVM8	S22A9_HUMAN			1	441	+			64					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	ENST00000279178.3	37	c.192T>G	CCDS8043.1																																																																																				0.512	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		7	451	0	0	0	1	0	7	451				
SNX13	23161	broad.mit.edu	37	7	17833769	17833769	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:17833769A>G	ENST00000428135.3	-	26	2972	c.2774T>C	c.(2773-2775)tTc>tCc	p.F925S	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	936					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.F925S(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAGTTCACGGAATTTATACTG	0.358																																						ENST00000428135.3																			1	Substitution - Missense(1)	p.F925S(1)	kidney(1)	breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2773-2775)tTc>tCc		sorting nexin 13							88.0	82.0	84.0					7																	17833769		1832	4081	5913	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17833769A>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000428135.3:c.2774T>C	7.37:g.17833769A>G	ENSP00000398789:p.Phe925Ser		Somatic				SNX13_ENST00000409389.1_3'UTR|SNX13_ENST00000496855.1_5'UTR	p.F925S	NM_015132.4	NP_055947.1	WXS	Illumina GAIIx	Phase_I	Q9Y5W8	SNX13_HUMAN			26	2972	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		936					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000428135.3	37	c.2774T>C	CCDS47551.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149931	0.78001	.	.	ENSG00000071189	ENST00000428135;ENST00000242044	T	0.15603	2.41	5.67	5.67	0.87782	.	0.085998	0.85682	D	0.000000	T	0.39436	0.1078	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.916;0.992	T	0.04885	-1.0920	10	0.36615	T	0.2	-10.7552	16.1924	0.82000	1.0:0.0:0.0:0.0	.	722;925	B3KN60;Q9Y5W8-2	.;.	S	925;973	ENSP00000398789:F925S	ENSP00000242044:F973S	F	-	2	0	SNX13	17800294	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.208000	0.95075	2.287000	0.76781	0.482000	0.46254	TTC		0.358	SNX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327607.2	NM_015132		42	20	0	0	0	1	0	42	20				
KSR1	8844	broad.mit.edu	37	17	25917879	25917879	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:25917879C>T	ENST00000319524.6	+	7	1089	c.1089C>T	c.(1087-1089)tgC>tgT	p.C363C	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Silent_p.C363C|KSR1_ENST00000268763.6_Silent_p.C226C|KSR1_ENST00000398988.3_Silent_p.C226C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	363					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCACGTGTGCCAGAAGAGCA	0.557																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(676-678)tgC>tgT		kinase suppressor of ras 1							47.0	50.0	49.0					17																	25917879		2051	4201	6252	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25917879C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1089C>T	17.37:g.25917879C>T			Somatic				KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Silent_p.C363C|KSR1_ENST00000319524.6_Silent_p.C363C|KSR1_ENST00000268763.6_Silent_p.C226C	p.C226C	NM_014238.1	NP_055053.1	WXS	Illumina GAIIx	Phase_I	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	8	1123	+	Lung NSC(42;0.00836)		361					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.678C>T		.	.	.	.	.	.	.	.	.	.	c	10.92	1.486206	0.26686	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.58	2.55	0.30701	.	.	.	.	.	T	0.56262	0.1973	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49943	-0.8885	4	.	.	.	.	8.0693	0.30680	0.0:0.6203:0.0:0.3797	.	.	.	.	S	99	.	.	P	+	1	0	KSR1	22942006	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	0.315000	0.19451	0.745000	0.32763	0.486000	0.48141	CCA		0.557	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	334	0	0	0	1	0	4	334				
SCLY	51540	broad.mit.edu	37	2	238999888	238999888	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:238999888T>C	ENST00000555827.1	+	8	978	c.914T>C	c.(913-915)cTt>cCt	p.L305P	SCLY_ENST00000409736.2_Missense_Mutation_p.L305P|SCLY_ENST00000373332.3_Missense_Mutation_p.L223P|SCLY_ENST00000254663.6_Missense_Mutation_p.L313P|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.L211P			Q96I15	SCLY_HUMAN	selenocysteine lyase	305					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATTGCTGGCCTTGGGAAGGTG	0.478																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(937-939)cTt>cCt		selenocysteine lyase							252.0	236.0	241.0					2																	238999888		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238999888T>C	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.914T>C	2.37:g.238999888T>C	ENSP00000450613:p.Leu305Pro		Somatic				SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.L223P|SCLY_ENST00000422984.2_Missense_Mutation_p.L211P|SCLY_ENST00000555827.1_Missense_Mutation_p.L305P|SCLY_ENST00000409736.2_Missense_Mutation_p.L305P	p.L313P	NM_016510.5	NP_057594.4	WXS	Illumina GAIIx	Phase_I	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	8	1080	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	305					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.938T>C		.	.	.	.	.	.	.	.	.	.	T	23.5	4.425545	0.83667	.	.	ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.48	5.48	0.80851	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.97052	0.9037	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98358	1.0547	10	0.87932	D	0	-23.1897	14.575	0.68240	0.0:0.0:0.0:1.0	.	211;305;305	E7ESG3;Q96I15;Q96I15-2	.;SCLY_HUMAN;.	P	313;305;223;305;211;135	ENSP00000254663:L313P;ENSP00000450613:L305P;ENSP00000362429:L223P;ENSP00000387162:L305P;ENSP00000416865:L211P;ENSP00000414053:L135P	ENSP00000254663:L305P	L	+	2	0	SCLY	238664627	1.000000	0.71417	0.984000	0.44739	0.902000	0.53008	7.623000	0.83113	2.084000	0.62774	0.533000	0.62120	CTT		0.478	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		6	448	0	0	0	1	0	6	448				
EIF2B3	8891	broad.mit.edu	37	1	45407191	45407191	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:45407191C>T	ENST00000360403.2	-	4	567	c.441G>A	c.(439-441)ggG>ggA	p.G147G	EIF2B3_ENST00000372183.3_Silent_p.G147G|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	147					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTTTTTTTTTCCCCTTTTGAC	0.368																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(439-441)ggG>ggA		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa							155.0	145.0	148.0					1																	45407191		2203	4300	6503	SO:0001819	synonymous_variant	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45407191C>T	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.441G>A	1.37:g.45407191C>T			Somatic				EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Silent_p.G147G	p.G147G	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	WXS	Illumina GAIIx	Phase_I	Q9NR50	EI2BG_HUMAN			4	567	-	Acute lymphoblastic leukemia(166;0.155)		147					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	ENST00000360403.2	37	c.441G>A	CCDS517.1																																																																																				0.368	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		6	200	0	0	0	1	0	6	200				
GOLIM4	27333	broad.mit.edu	37	3	167747822	167747822	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:167747822C>T	ENST00000470487.1	-	10	1868	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V	GOLIM4_ENST00000309027.4_Silent_p.V365V	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	393	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGAAGGGTACACCTAGGGTG	0.517																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1177-1179)gtG>gtA		golgi integral membrane protein 4							76.0	69.0	72.0					3																	167747822		2203	4300	6503	SO:0001819	synonymous_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747822C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1179G>A	3.37:g.167747822C>T			Somatic				GOLIM4_ENST00000309027.4_Silent_p.V365V	p.V393V	NM_014498.3	NP_055313.1	WXS	Illumina GAIIx	Phase_I	O00461	GOLI4_HUMAN			10	1868	-			393			Glu-rich.			Silent	SNP	ENST00000470487.1	37	c.1179G>A	CCDS3204.1																																																																																				0.517	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			78	579	0	0	0	1	0	78	579				
CNOT1	23019	broad.mit.edu	37	16	58589212	58589212	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:58589212G>C	ENST00000317147.5	-	21	3166	c.2834C>G	c.(2833-2835)cCt>cGt	p.P945R	CNOT1_ENST00000569240.1_Missense_Mutation_p.P940R|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.P945R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	945	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.P945R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGATCCAAAAGGCTTGCGTAA	0.428																																						ENST00000317147.5																			2	Substitution - Missense(2)	p.P945R(2)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2833-2835)cCt>cGt		CCR4-NOT transcription complex, subunit 1							136.0	127.0	130.0					16																	58589212		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589212G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2834C>G	16.37:g.58589212G>C	ENSP00000320949:p.Pro945Arg		Somatic				CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.P940R|CNOT1_ENST00000441024.2_Missense_Mutation_p.P945R	p.P945R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3166	-			945					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2834C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934484	0.92458	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.52057	0.7;0.68	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.93328	3.405	0.80722	D	1	P;P;P	0.52061	0.95;0.875;0.829	P;P;P	0.51657	0.625;0.456;0.676	T	0.79438	-0.1803	10	0.66056	D	0.02	.	20.1076	0.97898	0.0:0.0:1.0:0.0	.	945;945;940	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	945;374;940;945	ENSP00000320949:P945R;ENSP00000413113:P945R	ENSP00000320949:P945R	P	-	2	0	CNOT1	57146713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.823000	0.97156	0.650000	0.86243	CCT		0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		79	224	0	0	0	1	0	79	224				
IGLV2-18	28814	broad.mit.edu	37	22	23077568	23077568	+	RNA	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:23077568C>T	ENST00000390310.2	+	0	358				D87007.1_ENST00000579613.1_RNA					immunoglobulin lambda variable 2-18																		ATACAAGCAGCAGCACTTTCC	0.572																																						ENST00000390310.2																			0																				68.0	67.0	67.0					22																	23077568		1876	4112	5988			28814							g.chr22:23077568C>T	Z73642		22q11.2	2012-02-08			ENSG00000211664	ENSG00000211664		"""Immunoglobulins / IGL locus"""	5889	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151232		22.37:g.23077568C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	358	+									RNA	SNP	ENST00000390310.2	37																																																																																						0.572	IGLV2-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321836.1	NG_000002		5	299	0	0	0	1	0	5	299				
MGA	23269	broad.mit.edu	37	15	41961522	41961522	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:41961522C>G	ENST00000570161.1	+	1	430	c.430C>G	c.(430-432)Cct>Gct	p.P144A	MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.P144A|MGA_ENST00000219905.7_Missense_Mutation_p.P144A|MGA_ENST00000545763.1_Missense_Mutation_p.P144A|MGA_ENST00000566586.1_Missense_Mutation_p.P144A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGTGGGAACCTAGTGGGAA	0.403																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(430-432)Cct>Gct		MGA, MAX dimerization protein							290.0	288.0	288.0					15																	41961522		1885	4099	5984	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961522C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.430C>G	15.37:g.41961522C>G	ENSP00000457035:p.Pro144Ala		Somatic				MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.P144A|MGA_ENST00000566586.1_Missense_Mutation_p.P144A|MGA_ENST00000570161.1_Missense_Mutation_p.P144A|MGA_ENST00000545763.1_Missense_Mutation_p.P144A	p.P144A	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	611	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	144					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.430C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533859	0.45073	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89810	-2.57;-2.57;-2.57	5.76	5.76	0.90799	.	0.213097	0.49916	D	0.000136	D	0.86785	0.6016	N	0.17594	0.5	0.41678	D	0.989271	P;P	0.40619	0.724;0.716	P;P	0.50617	0.646;0.479	D	0.85972	0.1477	10	0.37606	T	0.19	.	15.7687	0.78146	0.0:0.8644:0.1356:0.0	.	144;144	F5H7K2;E7ENI0	.;.	A	144	ENSP00000219905:P144A;ENSP00000374586:P144A;ENSP00000442467:P144A	ENSP00000219905:P144A	P	+	1	0	MGA	39748814	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	2.122000	0.41987	2.882000	0.98803	0.655000	0.94253	CCT		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	851	0	0	0	1	0	6	851				
PAPD7	11044	broad.mit.edu	37	5	6754991	6754991	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:6754991G>A	ENST00000230859.6	+	13	1691	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	751					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTATAACCGCACCGGCTGG	0.642																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1561-1563)cGc>cAc		PAP associated domain containing 7							34.0	36.0	35.0					5																	6754991		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6754991G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1562G>A	5.37:g.6754991G>A	ENSP00000230859:p.Arg521His		Somatic					p.R521H	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	WXS	Illumina GAIIx	Phase_I	Q5XG87	PAPD7_HUMAN			13	1691	+			521					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1562G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092069	0.94149	.	.	ENSG00000112941	ENST00000230859	T	0.48201	0.82	4.96	4.96	0.65561	.	0.063541	0.64402	D	0.000007	T	0.56046	0.1959	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.56208	-0.8017	10	0.42905	T	0.14	-7.0459	16.3683	0.83344	0.0:0.0:1.0:0.0	.	520;521	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	H	521	ENSP00000230859:R521H	ENSP00000230859:R521H	R	+	2	0	PAPD7	6807991	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.928000	0.70088	2.458000	0.83093	0.655000	0.94253	CGC		0.642	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		5	138	0	0	0	1	0	5	138				
PAXIP1	22976	broad.mit.edu	37	7	154738246	154738246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:154738246G>A	ENST00000404141.1	-	19	3263	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Nonsense_Mutation_p.R1037*			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1037	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAATATTCTCGGCATAAATGA	0.408																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(3109-3111)Cga>Tga		PAX interacting (with transcription-activation domain) protein 1							65.0	64.0	65.0					7																	154738246		1893	4117	6010	SO:0001587	stop_gained	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154738246G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3109C>T	7.37:g.154738246G>A	ENSP00000384048:p.Arg1037*		Somatic				PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Nonsense_Mutation_p.R1037*	p.R1037*			WXS	Illumina GAIIx	Phase_I	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	19	3263	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	1037			BRCT 6.|Interaction with TP53BP1.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Nonsense_Mutation	SNP	ENST00000404141.1	37	c.3109C>T	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	40	8.484646	0.98832	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	.	.	.	5.34	4.45	0.53987	.	0.000000	0.45606	U	0.000353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.7535	15.9797	0.80097	0.0:0.135:0.865:0.0	.	.	.	.	X	1037;1037;861;990	.	ENSP00000319149:R990X	R	-	1	2	PAXIP1	154369179	1.000000	0.71417	0.590000	0.28732	0.642000	0.38348	3.728000	0.54991	1.222000	0.43521	0.555000	0.69702	CGA		0.408	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		6	194	0	0	0	1	0	6	194				
BCL11A	53335	broad.mit.edu	37	2	60687749	60687749	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:60687749G>A	ENST00000335712.6	-	4	2525	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Silent_p.G732G|BCL11A_ENST00000538214.1_Silent_p.G732G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	766					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AAGGCCTTTCGCCCGTGTGGC	0.532			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(2296-2298)ggC>ggT		B-cell CLL/lymphoma 11A (zinc finger protein)							124.0	127.0	126.0					2																	60687749		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687749G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2298C>T	2.37:g.60687749G>A			Somatic				BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.G732G|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Silent_p.G732G	p.G766G	NM_022893.3	NP_075044.2	WXS	Illumina GAIIx	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2525	-			766					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2298C>T	CCDS1862.1																																																																																				0.532	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	191	0	0	0	1	0	8	191				
RBM28	55131	broad.mit.edu	37	7	127965927	127965927	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:127965927A>C	ENST00000223073.2	-	11	1261	c.1147T>G	c.(1147-1149)Ttc>Gtc	p.F383V	RBM28_ENST00000415472.2_Missense_Mutation_p.F242V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	383	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F383V(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGAGTCATGAACTGGGCAAAT	0.443																																						ENST00000223073.1																			1	Substitution - Missense(1)	p.F383V(1)	kidney(1)	breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1147-1149)Ttc>Gtc		RNA binding motif protein 28							70.0	64.0	66.0					7																	127965927		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127965927A>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1147T>G	7.37:g.127965927A>C	ENSP00000223073:p.Phe383Val		Somatic				RBM28_ENST00000415472.2_Missense_Mutation_p.F242V	p.F383V	NM_018077.2	NP_060547.2	WXS	Illumina GAIIx	Phase_I	Q9NW13	RBM28_HUMAN			11	1261	-			383			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1147T>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.766369	0.90020	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.41400	1.0;1.0	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	H	0.97023	3.925	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.992	D	0.84405	0.0562	10	0.87932	D	0	-12.8565	14.7743	0.69713	1.0:0.0:0.0:0.0	.	242;383	E9PDD9;Q9NW13	.;RBM28_HUMAN	V	383;242	ENSP00000223073:F383V;ENSP00000390517:F242V	ENSP00000223073:F383V	F	-	1	0	RBM28	127753163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.400000	0.79949	2.371000	0.80710	0.533000	0.62120	TTC		0.443	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		128	139	0	0	0	1	0	128	139				
MYBPC2	4606	broad.mit.edu	37	19	50947024	50947024	+	Missense_Mutation	SNP	C	C	T	rs201433983		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50947024C>T	ENST00000357701.5	+	11	1135	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	362	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGTGGGTGACCGGGTGGAAAT	0.552													N|||	1	0.000199681	0.0008	0.0	5008	,	,		18857	0.0		0.0	False		,,,				2504	0.0					ENST00000357701.5																			0				breast(1)	1						c.(1084-1086)Cgg>Tgg		myosin binding protein C, fast type							193.0	196.0	195.0					19																	50947024		2054	4197	6251	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50947024C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1084C>T	19.37:g.50947024C>T	ENSP00000350332:p.Arg362Trp		Somatic					p.R362W	NM_004533.3	NP_004524.3	WXS	Illumina GAIIx	Phase_I	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	11	1135	+		all_neural(266;0.057)	362			Ig-like C2-type 3.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.1084C>T	CCDS46152.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	17.48	3.401035	0.62288	.	.	ENSG00000086967	ENST00000357701	T	0.68181	-0.31	3.91	3.91	0.45181	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315484	0.16109	U	0.229182	D	0.82953	0.5149	M	0.89904	3.07	0.36178	D	0.849251	D	0.89917	1.0	D	0.83275	0.996	D	0.86926	0.2070	10	0.62326	D	0.03	.	9.8486	0.41043	0.3225:0.6774:0.0:0.0	.	362	Q14324	MYPC2_HUMAN	W	362	ENSP00000350332:R362W	ENSP00000350332:R362W	R	+	1	2	MYBPC2	55638836	0.565000	0.26610	1.000000	0.80357	0.803000	0.45373	1.098000	0.31000	2.134000	0.65973	0.196000	0.17591	CGG		0.552	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		6	798	0	0	0	1	0	6	798				
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108.0	110.0	110.0					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val		Somatic					p.A304V	NM_002563.3	NP_002554.1	WXS	Illumina GAIIx	Phase_I	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	180	0	0	0	1	0	5	180				
SLC45A1	50651	broad.mit.edu	37	1	8390885	8390885	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:8390885G>A	ENST00000471889.1	+	5	1717	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.K444K|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.K478K			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	444					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCTCTAAGCCGAGGTCAT	0.622																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1330-1332)aaG>aaA		solute carrier family 45, member 1							49.0	56.0	53.0					1																	8390885		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390885G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1332G>A	1.37:g.8390885G>A			Somatic				SLC45A1_ENST00000289877.8_Silent_p.K444K|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.K478K	p.K444K			WXS	Illumina GAIIx	Phase_I	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1717	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	444					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1332G>A	CCDS30577.1																																																																																				0.622	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			3	86	0	0	0	1	0	3	86				
HEXIM1	10614	broad.mit.edu	37	17	43227150	43227150	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:43227150A>T	ENST00000332499.2	+	1	2467	c.593A>T	c.(592-594)cAg>cTg	p.Q198L	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	198					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCAAGGGCCAGCCGGTCGCG	0.577											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(592-594)cAg>cTg		hexamethylene bis-acetamide inducible 1							82.0	91.0	88.0					17																	43227150		2203	4300	6503	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227150A>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.593A>T	17.37:g.43227150A>T	ENSP00000328773:p.Gln198Leu		Somatic	OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.Q198L	NM_006460.2	NP_006451.1	WXS	Illumina GAIIx	Phase_I	O94992	HEXI1_HUMAN			1	2467	+			198					B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.593A>T	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648150	0.47258	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	.	0.074822	0.56097	D	0.000031	T	0.52451	0.1735	L	0.38531	1.155	0.43598	D	0.995954	B	0.23854	0.092	B	0.25506	0.061	T	0.50775	-0.8788	9	0.38643	T	0.18	-22.3923	13.0662	0.59034	1.0:0.0:0.0:0.0	.	198	O94992	HEXI1_HUMAN	L	198	.	ENSP00000328773:Q198L	Q	+	2	0	HEXIM1	40582933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.524000	0.73791	1.776000	0.52262	0.459000	0.35465	CAG		0.577	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		4	138	0	0	0	1	0	4	138				
SCARNA2	677766	broad.mit.edu	37	1	109642843	109642843	+	lincRNA	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:109642843C>A	ENST00000458748.1	+	0	29					NR_003023.1				small Cajal body-specific RNA 2																		GGCCTGGGTCCTGGGTGTTGT	0.647																																						ENST00000458748.1																			0																				20.0	20.0	20.0					1																	109642843		876	1991	2867			677766							g.chr1:109642843C>A	BK005568		1q13.1	2013-09-05			ENSG00000238881	ENSG00000270066		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32558	non-coding RNA	RNA, small nucleolar						15556860	Standard	NR_003023		Approved	mgU2-25/61, HBII-382	uc001dwo.1				1.37:g.109642843C>A			Somatic						NR_003023.1		WXS	Illumina GAIIx	Phase_I					0	29	+									RNA	SNP	ENST00000458748.1	37																																																																																						0.647	SCARNA2-201	KNOWN	basic	snoRNA	lincRNA		NR_003023		23	28	1	0	3.28513e-13	1	3.62604e-13	23	28				
MYO10	4651	broad.mit.edu	37	5	16672852	16672852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:16672852T>C	ENST00000513610.1	-	37	5709	c.5255A>G	c.(5254-5256)gAc>gGc	p.D1752G	MYO10_ENST00000505695.1_Missense_Mutation_p.D1091G|MYO10_ENST00000515803.1_Missense_Mutation_p.D1091G|MYO10_ENST00000427430.2_Missense_Mutation_p.D1109G|MYO10_ENST00000274203.9_Missense_Mutation_p.D1109G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1752	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AATGGCTTTGTCGACGTGGCC	0.483																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5254-5256)gAc>gGc		myosin X							140.0	140.0	140.0					5																	16672852		2021	4162	6183	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16672852T>C	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5255A>G	5.37:g.16672852T>C	ENSP00000421280:p.Asp1752Gly		Somatic				MYO10_ENST00000515803.1_Missense_Mutation_p.D1091G|MYO10_ENST00000505695.1_Missense_Mutation_p.D1091G|MYO10_ENST00000274203.9_Missense_Mutation_p.D1109G|MYO10_ENST00000427430.2_Missense_Mutation_p.D1109G	p.D1752G	NM_012334.2	NP_036466.2	WXS	Illumina GAIIx	Phase_I	Q9HD67	MYO10_HUMAN			37	5709	-			1752			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5255A>G	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.732644	0.69189	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;T;T;T;T	0.87650	-2.28;2.39;2.39;2.39;2.39	5.54	5.54	0.83059	Band 4.1 domain (1);FERM domain (1);Ras-association (1);	.	.	.	.	D	0.87989	0.6317	M	0.75447	2.3	0.80722	D	1	P;P;P	0.42078	0.605;0.546;0.77	B;B;B	0.41271	0.154;0.133;0.352	D	0.89491	0.3757	9	0.72032	D	0.01	.	15.678	0.77344	0.0:0.0:0.0:1.0	.	631;1392;1752	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	G	1752;1091;1109;1091;1109	ENSP00000421280:D1752G;ENSP00000425051:D1091G;ENSP00000274203:D1109G;ENSP00000421170:D1091G;ENSP00000391106:D1109G	ENSP00000274203:D1109G	D	-	2	0	MYO10	16725852	1.000000	0.71417	0.933000	0.37362	0.901000	0.52897	6.243000	0.72384	2.098000	0.63641	0.533000	0.62120	GAC		0.483	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	95	0	0	0	1	0	3	95				
CACNA1S	779	broad.mit.edu	37	1	201046093	201046093	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:201046093G>A	ENST00000362061.3	-	12	2008	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	CACNA1S_ENST00000367338.3_Silent_p.R594R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	594					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAAGTTGCTGCGCCGTACTT	0.557																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1780-1782)cgC>cgT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						194.0	165.0	175.0					1																	201046093		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046093G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1782C>T	1.37:g.201046093G>A			Somatic				CACNA1S_ENST00000367338.3_Silent_p.R594R	p.R594R	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	2008	-			594					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1782C>T	CCDS1407.1																																																																																				0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		8	948	0	0	0	1	0	8	948				
HK3	3101	broad.mit.edu	37	5	176317826	176317826	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:176317826G>A	ENST00000292432.5	-	5	622	c.531C>T	c.(529-531)gaC>gaT	p.D177D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	177	Glucose-binding. {ECO:0000255}.|Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.D177D(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCACCCTGTCCAAGCCCG	0.597																																						ENST00000292432.5																			2	Substitution - coding silent(2)	p.D177D(2)	kidney(2)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(529-531)gaC>gaT		hexokinase 3 (white cell)							65.0	66.0	66.0					5																	176317826		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317826G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.531C>T	5.37:g.176317826G>A			Somatic					p.D177D	NM_002115.2	NP_002106.2	WXS	Illumina GAIIx	Phase_I	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	622	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	177			Glucose-binding (Potential).|Regulatory.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.531C>T	CCDS4407.1																																																																																				0.597	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			7	130	0	0	0	1	0	7	130				
AP5M1	55745	broad.mit.edu	37	14	57741171	57741171	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:57741171C>T	ENST00000261558.3	+	2	690	c.284C>T	c.(283-285)cCa>cTa	p.P95L	AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	95					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GAACTCTGGCCAGTTGTTGCT	0.423																																						ENST00000261558.3																			0											c.(283-285)cCa>cTa		adaptor-related protein complex 5, mu 1 subunit							92.0	85.0	87.0					14																	57741171		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741171C>T	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.284C>T	14.37:g.57741171C>T	ENSP00000261558:p.Pro95Leu		Somatic				AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	p.P95L	NM_018229.3	NP_060699.3	WXS	Illumina GAIIx	Phase_I	Q9H0R1	MUDEN_HUMAN			2	690	+			95					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.284C>T	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995790	0.93167	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.74106	-0.68;-0.81	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87276	0.2289	10	0.87932	D	0	.	20.14	0.98056	0.0:1.0:0.0:0.0	.	95;95	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	L	95;109	ENSP00000261558:P95L;ENSP00000390531:P109L	ENSP00000261558:P95L	P	+	2	0	MUDENG	56810924	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.837000	0.97791	0.591000	0.81541	CCA		0.423	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		4	51	0	0	0	1	0	4	51				
RALGAPB	57148	broad.mit.edu	37	20	37128142	37128142	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37128142G>A	ENST00000262879.6	+	5	890	c.606G>A	c.(604-606)gtG>gtA	p.V202V	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Silent_p.V202V|RALGAPB_ENST00000397040.1_Silent_p.V202V|RALGAPB_ENST00000537204.1_Silent_p.V202V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	202					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTTGAGGTGTGGTTACTAG	0.453																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(604-606)gtG>gtA		Ral GTPase activating protein, beta subunit (non-catalytic)							296.0	248.0	264.0					20																	37128142		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37128142G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.606G>A	20.37:g.37128142G>A			Somatic				RALGAPB_ENST00000397042.3_Silent_p.V202V|RALGAPB_ENST00000537204.1_Silent_p.V202V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Silent_p.V202V	p.V202V			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			5	890	+			202					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.606G>A	CCDS13305.1																																																																																				0.453	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		23	822	0	0	0	1	0	23	822				
USP11	8237	broad.mit.edu	37	X	47098519	47098519	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:47098519G>A	ENST00000218348.3	+	2	356	c.356G>A	c.(355-357)gGa>gAa	p.G119E	USP11_ENST00000377107.2_Missense_Mutation_p.G76E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	119	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TACGTGCAGGGAGGGGACCAG	0.557																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(226-228)gGa>gAa		ubiquitin specific peptidase 11							86.0	54.0	65.0					X																	47098519		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47098519G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.356G>A	X.37:g.47098519G>A	ENSP00000218348:p.Gly119Glu		Somatic				USP11_ENST00000218348.3_Missense_Mutation_p.G119E	p.G76E			WXS	Illumina GAIIx	Phase_I	P51784	UBP11_HUMAN			2	581	+			119			DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.227G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027492	0.35797	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21543	2.04;2.0	5.95	2.11	0.27256	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.636454	0.15264	N	0.271654	T	0.13500	0.0327	L	0.41356	1.27	0.33796	D	0.626052	B	0.11235	0.004	B	0.12156	0.007	T	0.17018	-1.0383	10	0.31617	T	0.26	-2.0862	1.4394	0.02350	0.283:0.2215:0.3749:0.1206	.	119	P51784	UBP11_HUMAN	E	76;119	ENSP00000366311:G76E;ENSP00000218348:G119E	ENSP00000218348:G119E	G	+	2	0	USP11	46983463	0.960000	0.32886	0.930000	0.37139	0.991000	0.79684	0.741000	0.26202	0.251000	0.21505	0.600000	0.82982	GGA		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		13	132	0	0	0	1	0	13	132				
FKBP9P1	360132	broad.mit.edu	37	7	55755682	55755682	+	RNA	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:55755682G>C	ENST00000455909.1	-	0	389				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						GTGTTCCTAtgagaagaacac	0.413																																						ENST00000455909.1																			0				endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like																																						360132							g.chr7:55755682G>C																													7.37:g.55755682G>C			Somatic						NR_027340.1|NR_027342.1		WXS	Illumina GAIIx	Phase_I					0	389	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.413	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			123	275	0	0	0	1	0	123	275				
PEPD	5184	broad.mit.edu	37	19	33904523	33904523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33904523C>T	ENST00000244137.7	-	10	731	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	PEPD_ENST00000436370.3_Missense_Mutation_p.R169Q|PEPD_ENST00000397032.4_Missense_Mutation_p.R192Q	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	233					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CATGCCGCCCCGGGAGTAGCA	0.667																																						ENST00000244137.6																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(697-699)cGg>cAg		peptidase D							25.0	33.0	30.0					19																	33904523		2100	4216	6316	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33904523C>T	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.698G>A	19.37:g.33904523C>T	ENSP00000244137:p.Arg233Gln		Somatic				PEPD_ENST00000436370.3_Missense_Mutation_p.R169Q|PEPD_ENST00000397032.4_Missense_Mutation_p.R192Q	p.R233Q	NM_000285.3	NP_000276.2	WXS	Illumina GAIIx	Phase_I	P12955	PEPD_HUMAN			10	731	-	Esophageal squamous(110;0.137)		233					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.698G>A	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045321	0.36085	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.77620	-1.11;-1.11;-1.11	5.24	1.91	0.25777	Peptidase M24, structural domain (3);	0.313899	0.32935	N	0.005478	T	0.59636	0.2208	N	0.20328	0.56	0.80722	D	1	B;B;B	0.21905	0.062;0.046;0.018	B;B;B	0.22880	0.013;0.042;0.012	T	0.44636	-0.9315	10	0.30854	T	0.27	-9.8991	7.6798	0.28507	0.0:0.7309:0.0:0.2691	.	169;192;233	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	Q	233;192;169	ENSP00000244137:R233Q;ENSP00000380226:R192Q;ENSP00000391890:R169Q	ENSP00000244137:R233Q	R	-	2	0	PEPD	38596363	0.894000	0.30519	0.955000	0.39395	0.995000	0.86356	1.067000	0.30616	0.219000	0.20840	0.558000	0.71614	CGG		0.667	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		2	5	0	0	0	1	0	2	5				
PDE11A	50940	broad.mit.edu	37	2	178494151	178494151	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:178494151T>C	ENST00000286063.6	-	20	3103	c.2786A>G	c.(2785-2787)aAg>aGg	p.K929R	PDE11A_ENST00000358450.4_Missense_Mutation_p.K679R|PDE11A_ENST00000409504.1_Missense_Mutation_p.K571R|PDE11A_ENST00000449286.2_Missense_Mutation_p.K571R|PDE11A_ENST00000389683.3_Missense_Mutation_p.K485R|PDE11A_ENST00000450799.2_Missense_Mutation_p.K120R	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	929					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CCTGTCTTCCTTGGCTACCAT	0.478									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(2785-2787)aAg>aGg		phosphodiesterase 11A							208.0	166.0	180.0					2																	178494151		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178494151T>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2786A>G	2.37:g.178494151T>C	ENSP00000286063:p.Lys929Arg		Somatic				PDE11A_ENST00000409504.1_Missense_Mutation_p.K571R|PDE11A_ENST00000450799.2_Missense_Mutation_p.K120R|PDE11A_ENST00000358450.4_Missense_Mutation_p.K679R|PDE11A_ENST00000389683.3_Missense_Mutation_p.K485R|PDE11A_ENST00000449286.2_Missense_Mutation_p.K571R	p.K929R	NM_016953.3	NP_058649.3	WXS	Illumina GAIIx	Phase_I	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		20	3103	-			929					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2786A>G	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	T	8.927	0.962617	0.18583	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T;T	0.72505	-0.25;-0.07;-0.06;-0.18;-0.66;-0.18	5.35	-8.09	0.01090	.	10.998200	0.00166	N	0.000002	T	0.41880	0.1178	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27938	-1.0059	10	0.22109	T	0.4	.	2.5124	0.04659	0.1359:0.2198:0.3728:0.2715	.	679;929	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	R	929;679;120;571;485;571	ENSP00000286063:K929R;ENSP00000351232:K679R;ENSP00000387964:K120R;ENSP00000386539:K571R;ENSP00000374333:K485R;ENSP00000390599:K571R	ENSP00000286063:K929R	K	-	2	0	PDE11A	178202397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.352000	0.07701	-1.595000	0.01613	-2.295000	0.00263	AAG		0.478	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			5	296	0	0	0	1	0	5	296				
ZFHX3	463	broad.mit.edu	37	16	72831119	72831119	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:72831119G>A	ENST00000268489.5	-	9	6134	c.5462C>T	c.(5461-5463)gCa>gTa	p.A1821V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A907V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1821					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGTGTCAGTGCCCCACTGGT	0.592																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5461-5463)gCa>gTa		zinc finger homeobox 3							86.0	81.0	83.0					16																	72831119		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831119G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5462C>T	16.37:g.72831119G>A	ENSP00000268489:p.Ala1821Val		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.A907V	p.A1821V	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	6134	-		Ovarian(137;0.13)	1821					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5462C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544424	0.27563	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74842	-0.88;-0.86	6.03	6.03	0.97812	.	0.000000	0.49916	D	0.000136	T	0.57814	0.2079	N	0.03608	-0.345	0.39642	D	0.970332	B	0.14438	0.01	B	0.10450	0.005	T	0.54180	-0.8332	10	0.42905	T	0.14	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1821	Q15911	ZFHX3_HUMAN	V	1821;907	ENSP00000268489:A1821V;ENSP00000438926:A907V	ENSP00000268489:A1821V	A	-	2	0	ZFHX3	71388620	1.000000	0.71417	0.975000	0.42487	0.964000	0.63967	5.718000	0.68455	2.854000	0.98071	0.655000	0.94253	GCA		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	747	0	0	0	1	0	7	747				
POLR2A	5430	broad.mit.edu	37	17	7402776	7402776	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7402776G>A	ENST00000322644.6	+	10	2036	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	POLR2A_ENST00000572844.1_Missense_Mutation_p.R546H	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	546					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACAGCAGTGCGCAAATTCACC	0.577																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1636-1638)cGc>cAc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							103.0	91.0	95.0					17																	7402776		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7402776G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1637G>A	17.37:g.7402776G>A	ENSP00000314949:p.Arg546His		Somatic				POLR2A_ENST00000572844.1_Missense_Mutation_p.R546H	p.R546H	NM_000937.4	NP_000928.1	WXS	Illumina GAIIx	Phase_I	P24928	RPB1_HUMAN			10	2036	+		Prostate(122;0.173)	546					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1637G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375047	0.95923	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.78816	-1.21	6.04	6.04	0.98038	RNA polymerase Rpb1, domain 3 (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	M	0.89968	3.075	0.80722	D	1	D;D	0.76494	0.958;0.999	P;D	0.64776	0.657;0.929	D	0.91231	0.5014	10	0.87932	D	0	-10.3575	19.3663	0.94464	0.0:0.0:1.0:0.0	.	546;546	P24928;Q6NX41	RPB1_HUMAN;.	H	502;546	ENSP00000314949:R546H	ENSP00000314949:R546H	R	+	2	0	SLC35G6	7343500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.165000	0.94761	2.873000	0.98535	0.563000	0.77884	CGC		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	246	0	0	0	1	0	4	246				
ANKHD1	54882	broad.mit.edu	37	5	139828797	139828797	+	Splice_Site	SNP	C	C	T	rs138219375	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:139828797C>T	ENST00000360839.2	+	7	1303	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	ANKHD1_ENST00000394722.3_Splice_Site_p.G372G|ANKHD1_ENST00000394723.3_Splice_Site_p.G383G|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site_p.G383G|ANKHD1_ENST00000297183.6_Splice_Site_p.G383G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	383						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTCAAGGCCATTTGGATA	0.343													C|||	4	0.000798722	0.0015	0.0029	5008	,	,		16603	0.0		0.0	False		,,,				2504	0.0					ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.e7-1		ankyrin repeat and KH domain containing 1		C	,,,,	4,4402	8.1+/-20.4	0,4,2199	51.0	45.0	47.0		1149,1149,1116,1149,1149	3.3	1.0	5	dbSNP_134	47	1,8599		0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ANKHD1,ANKHD1-EIF4EBP3	NM_001197030.1,NM_017747.2,NM_017978.2,NM_020690.5,NM_024668.3	,,,,	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	,,,,	383/582,383/2543,372/617,383/2618,383/628	139828797	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	54882							g.chr5:139828797C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1148-1C>T	5.37:g.139828797C>T			Somatic				ANKHD1_ENST00000360839.2_Splice_Site_p.G383_splice|ANKHD1_ENST00000394722.3_Splice_Site_p.G372_splice|ANKHD1_ENST00000394723.3_Splice_Site_p.G383_splice|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site_p.G383_splice	p.G383_splice	NM_020690.5	NP_065741.3	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1273	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Splice_Site	SNP	ENST00000360839.2	37	c.1147_splice	CCDS4225.1																																																																																				0.343	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	Silent	3	32	0	0	0	1	0	3	32				
HS3ST3A1	9955	broad.mit.edu	37	17	13400102	13400102	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:13400102G>A	ENST00000284110.1	-	2	1430	c.633C>T	c.(631-633)atC>atT	p.I211I	HS3ST3A1_ENST00000578576.1_Silent_p.I9I	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	211					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTCCATGGTGATCTGCCCGT	0.602																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(631-633)atC>atT		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							52.0	58.0	56.0					17																	13400102		2203	4298	6501	SO:0001819	synonymous_variant	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400102G>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.633C>T	17.37:g.13400102G>A			Somatic				HS3ST3A1_ENST00000578576.1_Silent_p.I9I	p.I211I	NM_006042.1	NP_006033.1	WXS	Illumina GAIIx	Phase_I	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1430	-		all_lung(20;0.114)	211					A8K7N2	Silent	SNP	ENST00000284110.1	37	c.633C>T	CCDS11165.1																																																																																				0.602	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		11	572	0	0	0	1	0	11	572				
PDCD11	22984	broad.mit.edu	37	10	105185083	105185083	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:105185083G>A	ENST00000369797.3	+	20	3200	c.3106G>A	c.(3106-3108)Ggg>Agg	p.G1036R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1036	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCTCTCCATCGGGGACATGGT	0.512																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3106-3108)Ggg>Agg		programmed cell death 11							179.0	135.0	150.0					10																	105185083		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105185083G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3106G>A	10.37:g.105185083G>A	ENSP00000358812:p.Gly1036Arg		Somatic					p.G1036R	NM_014976.1	NP_055791.1	WXS	Illumina GAIIx	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	3200	+		Colorectal(252;0.0747)|Breast(234;0.128)	1036			S1 motif 9.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3106G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908988	0.72868	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.44881	0.91	6.04	6.04	0.98038	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85563	0.1229	10	0.87932	D	0	-30.493	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1036	Q14690	RRP5_HUMAN	R	1036	ENSP00000358812:G1036R	ENSP00000358812:G1036R	G	+	1	0	PDCD11	105175073	1.000000	0.71417	0.995000	0.50966	0.169000	0.22640	8.959000	0.93110	2.873000	0.98535	0.561000	0.74099	GGG		0.512	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			11	375	0	0	0	1	0	11	375				
SPTA1	6708	broad.mit.edu	37	1	158632529	158632529	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:158632529G>C	ENST00000368147.4	-	17	2607	c.2427C>G	c.(2425-2427)atC>atG	p.I809M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	809			I -> V (in dbSNP:rs7547313).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTCTCTTGGATCCAGGCCT	0.502																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2425-2427)atC>atG		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							100.0	103.0	102.0					1																	158632529		1948	4137	6085	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632529G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2427C>G	1.37:g.158632529G>C	ENSP00000357129:p.Ile809Met		Somatic				SPTA1_ENST00000368147.3_Missense_Mutation_p.I809M	p.I809M	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			17	2607	-	all_hematologic(112;0.0378)		809		I -> V (in dbSNP:rs7547313).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2427C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188984	0.57909	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.38887	1.11;1.11	4.28	0.0918	0.14469	.	0.000000	0.32852	N	0.005568	T	0.46112	0.1376	M	0.88979	2.995	0.39037	D	0.960056	D	0.89917	1.0	D	0.97110	1.0	T	0.50759	-0.8790	10	0.21540	T	0.41	.	3.8112	0.08798	0.3616:0.0:0.4742:0.1642	.	809	P02549	SPTA1_HUMAN	M	809	ENSP00000357130:I809M;ENSP00000357129:I809M	ENSP00000357129:I809M	I	-	3	3	SPTA1	156899153	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.938000	0.40203	0.093000	0.17368	0.563000	0.77884	ATC		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		5	661	0	0	0	1	0	5	661				
WWC2	80014	broad.mit.edu	37	4	184233572	184233572	+	Missense_Mutation	SNP	C	C	T	rs376679892		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:184233572C>T	ENST00000403733.3	+	22	3662	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	WWC2_ENST00000504005.1_Missense_Mutation_p.R837W|WWC2_ENST00000448232.2_Missense_Mutation_p.R1179W|WWC2_ENST00000508747.1_Missense_Mutation_p.R283W|WWC2_ENST00000513834.1_Missense_Mutation_p.R1106W	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1155					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GGACGTGTGTCGGCTCCGGGA	0.537																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(3463-3465)Cgg>Tgg		WW and C2 domain containing 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	105.0	105.0		3463	4.3	1.0	4		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	WWC2	NM_024949.5	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1155/1193	184233572	2,13004	2203	4300	6503	SO:0001583	missense	80014							g.chr4:184233572C>T	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3463C>T	4.37:g.184233572C>T	ENSP00000384222:p.Arg1155Trp		Somatic				WWC2_ENST00000448232.2_Missense_Mutation_p.R1179W|WWC2_ENST00000508747.1_Missense_Mutation_p.R283W|WWC2_ENST00000513834.1_Missense_Mutation_p.R1106W|WWC2_ENST00000504005.1_Missense_Mutation_p.R837W	p.R1155W	NM_024949.5	NP_079225.5	WXS	Illumina GAIIx	Phase_I	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	22	3662	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	1155					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.3463C>T	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658417	0.67586	2.27E-4	1.16E-4	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005;ENST00000508747	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.11	4.27	0.50696	.	0.085774	0.47455	D	0.000227	T	0.61899	0.2384	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;1.0	D;P;D;D	0.71414	0.932;0.881;0.973;0.95	T	0.64356	-0.6427	10	0.87932	D	0	-10.8163	8.0841	0.30762	0.2688:0.657:0.0:0.0742	.	1179;1155;283;1106	Q6AWC2-6;Q6AWC2;Q6AWC2-7;Q6AWC2-4	.;WWC2_HUMAN;.;.	W	1155;1106;1179;837;283	ENSP00000384222:R1155W;ENSP00000425054:R1106W;ENSP00000398577:R1179W;ENSP00000427569:R837W;ENSP00000420835:R283W	ENSP00000384222:R1155W	R	+	1	2	WWC2	184470566	0.966000	0.33281	0.962000	0.40283	0.993000	0.82548	2.188000	0.42612	1.398000	0.46701	0.650000	0.86243	CGG		0.537	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		5	178	0	0	0	1	0	5	178				
SCAPER	49855	broad.mit.edu	37	15	77059426	77059426	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:77059426T>A	ENST00000563290.1	-	11	1347	c.1252A>T	c.(1252-1254)Atg>Ttg	p.M418L	SCAPER_ENST00000324767.7_Missense_Mutation_p.M418L|SCAPER_ENST00000538941.2_Missense_Mutation_p.M172L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	418	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTTCTGCCATGGACTATAAA	0.338																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(514-516)Atg>Ttg		S-phase cyclin A-associated protein in the ER							66.0	53.0	57.0					15																	77059426		1815	4063	5878	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77059426T>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1252A>T	15.37:g.77059426T>A	ENSP00000454973:p.Met418Leu		Somatic				SCAPER_ENST00000324767.7_Missense_Mutation_p.M418L|SCAPER_ENST00000563290.1_Missense_Mutation_p.M418L	p.M172L	NM_001145923.1	NP_001139395.1	WXS	Illumina GAIIx	Phase_I	Q9BY12	SCAPE_HUMAN			11	1453	-			417					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.514A>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458363	0.84317	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22945	1.96;1.93	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.27349	0.0671	N	0.04508	-0.205	0.49483	D	0.999793	P;D;D	0.54397	0.928;0.966;0.966	D;D;D	0.68039	0.938;0.955;0.955	T	0.33929	-0.9849	10	0.21014	T	0.42	.	15.9905	0.80202	0.0:0.0:0.0:1.0	.	418;439;172	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	L	418;172;440	ENSP00000326924:M418L;ENSP00000442190:M172L	ENSP00000303560:M440L	M	-	1	0	SCAPER	74846481	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	7.525000	0.81892	2.183000	0.69458	0.397000	0.26171	ATG		0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		2	6	0	0	0	1	0	2	6				
GPR182	11318	broad.mit.edu	37	12	57389178	57389178	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57389178C>T	ENST00000300098.1	+	2	404	c.185C>T	c.(184-186)gCc>gTc	p.A62V	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	62					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTCTACCTGGCCATGTTTGTG	0.587																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(184-186)gCc>gTc		G protein-coupled receptor 182							196.0	180.0	185.0					12																	57389178		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389178C>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.185C>T	12.37:g.57389178C>T	ENSP00000300098:p.Ala62Val		Somatic					p.A62V	NM_007264.3	NP_009195.1	WXS	Illumina GAIIx	Phase_I	O15218	GP182_HUMAN			2	404	+			62						Missense_Mutation	SNP	ENST00000300098.1	37	c.185C>T	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	7.152	0.583892	0.13749	.	.	ENSG00000166856	ENST00000300098	T	0.34072	1.38	4.5	3.62	0.41486	.	0.338283	0.27433	N	0.019392	T	0.20740	0.0499	N	0.20986	0.625	0.29039	N	0.88523	B	0.25441	0.126	B	0.19946	0.027	T	0.10245	-1.0638	10	0.28530	T	0.3	.	7.0169	0.24892	0.0:0.7969:0.0:0.2031	.	62	O15218	GP182_HUMAN	V	62	ENSP00000300098:A62V	ENSP00000300098:A62V	A	+	2	0	GPR182	55675445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.129000	0.50500	1.262000	0.44165	0.561000	0.74099	GCC		0.587	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		10	1167	0	0	0	1	0	10	1167				
BCL9L	283149	broad.mit.edu	37	11	118778210	118778210	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:118778210G>T	ENST00000334801.3	-	3	1478	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	172					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCCCAATGGGCTTGTCGTCC	0.632											OREG0021388	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(514-516)Ccc>Acc		B-cell CLL/lymphoma 9-like							203.0	178.0	186.0					11																	118778210		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118778210G>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.514C>A	11.37:g.118778210G>T	ENSP00000335320:p.Pro172Thr		Somatic	OREG0021388	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1491	BCL9L_ENST00000526143.1_5'UTR	p.P172T	NM_182557.2	NP_872363.1	WXS	Illumina GAIIx	Phase_I	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	3	1478	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	172					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.514C>A	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808399	0.90707	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.62941	-0.01	5.67	5.67	0.87782	.	0.000000	0.47093	D	0.000256	T	0.56292	0.1975	L	0.34521	1.04	0.58432	D	0.999999	P;P	0.51537	0.946;0.911	P;B	0.48677	0.586;0.382	T	0.49390	-0.8945	10	0.12103	T	0.63	-13.8167	14.5848	0.68317	0.0:0.0:0.854:0.146	.	167;172	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	T	172;135;172;172	ENSP00000335320:P172T	ENSP00000335320:P172T	P	-	1	0	BCL9L	118283420	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.619000	0.74219	2.686000	0.91538	0.561000	0.74099	CCC		0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		6	676	1	0	0.0215528	1	0.022395	6	676				
CELF2	10659	broad.mit.edu	37	10	11317066	11317066	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:11317066G>A	ENST00000379261.4	+	8	895	c.803G>A	c.(802-804)gGc>gAc	p.G268D	CELF2_ENST00000417956.2_Missense_Mutation_p.G244D|CELF2_ENST00000354440.2_Missense_Mutation_p.G244D|CELF2_ENST00000427450.1_Missense_Mutation_p.G244D|CELF2_ENST00000315874.4_Missense_Mutation_p.G244D|CELF2_ENST00000399850.3_Missense_Mutation_p.G244D|CELF2_ENST00000450189.1_Missense_Mutation_p.G275D|CELF2_ENST00000354897.3_Missense_Mutation_p.G244D|CELF2_ENST00000542579.1_Missense_Mutation_p.G275D|CELF2_ENST00000608830.1_Missense_Mutation_p.G244D|CELF2_ENST00000609692.1_Missense_Mutation_p.G244D|CELF2_ENST00000537122.1_Missense_Mutation_p.G157D|CELF2_ENST00000416382.2_Missense_Mutation_p.G268D	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	268	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GCGTTCAGCGGCATTCAACAA	0.547																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(802-804)gGc>gAc		CUGBP, Elav-like family member 2							161.0	169.0	166.0					10																	11317066		2116	4229	6345	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11317066G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.803G>A	10.37:g.11317066G>A	ENSP00000368563:p.Gly268Asp		Somatic				CELF2_ENST00000416382.2_Missense_Mutation_p.G268D|CELF2_ENST00000542579.1_Missense_Mutation_p.G275D|CELF2_ENST00000427450.1_Missense_Mutation_p.G244D|CELF2_ENST00000354440.2_Missense_Mutation_p.G244D|CELF2_ENST00000399850.3_Missense_Mutation_p.G244D|CELF2_ENST00000537122.1_Missense_Mutation_p.G157D|CELF2_ENST00000354897.3_Missense_Mutation_p.G244D|CELF2_ENST00000315874.3_Missense_Mutation_p.G244D|CELF2_ENST00000417956.2_Missense_Mutation_p.G244D|CELF2_ENST00000450189.1_Missense_Mutation_p.G275D	p.G268D	NM_001025077.2	NP_001020248.1	WXS	Illumina GAIIx	Phase_I	O95319	CELF2_HUMAN			8	895	+			268			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.803G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126640	0.56721	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-0.57;-0.57;-0.47;-0.49;-0.47;-0.47;-0.47;2.19	5.46	5.46	0.80206	.	0.213661	0.48286	D	0.000190	D	0.88213	0.6376	M	0.65975	2.015	0.80722	D	1	P;P;D;P;D;P;P	0.71674	0.544;0.722;0.998;0.926;0.997;0.843;0.544	B;B;D;P;D;P;B	0.69479	0.116;0.169;0.964;0.454;0.942;0.625;0.116	D	0.85436	0.1152	10	0.27082	T	0.32	-12.7664	19.3054	0.94161	0.0:0.0:1.0:0.0	.	252;268;40;263;275;263;268	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	D	268;268;275;275;244;244;244;244;244;244;157;74	ENSP00000368563:G268D;ENSP00000406451:G268D;ENSP00000389951:G275D;ENSP00000443926:G275D;ENSP00000382743:G244D;ENSP00000404834:G244D;ENSP00000315328:G244D;ENSP00000346426:G244D;ENSP00000388530:G244D;ENSP00000438884:G157D	ENSP00000315328:G244D	G	+	2	0	CELF2	11357072	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.393000	0.79851	2.556000	0.86216	0.561000	0.74099	GGC		0.547	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	804	0	0	0	1	0	6	804				
NUP85	79902	broad.mit.edu	37	17	73231693	73231693	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:73231693C>A	ENST00000245544.4	+	19	1961	c.1890C>A	c.(1888-1890)acC>acA	p.T630T	NUP85_ENST00000579324.1_Silent_p.T518T|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000541827.1_Silent_p.T584T|NUP85_ENST00000579298.1_Silent_p.T585T|NUP85_ENST00000540768.1_Silent_p.T233T	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	630					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TAGAGACCACCAAGGTGGAAA	0.493																																						ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(1888-1890)acC>acA		nucleoporin 85kDa							84.0	79.0	81.0					17																	73231693		2203	4300	6503	SO:0001819	synonymous_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73231693C>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1890C>A	17.37:g.73231693C>A			Somatic				NUP85_ENST00000579324.1_Silent_p.T518T|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000541827.1_Silent_p.T584T|NUP85_ENST00000540768.1_Silent_p.T233T|NUP85_ENST00000579298.1_Silent_p.T585T	p.T630T	NM_024844.3	NP_079120.1	WXS	Illumina GAIIx	Phase_I	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		19	1961	+	all_lung(278;0.14)|Lung NSC(278;0.168)		630					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.1890C>A	CCDS32730.1																																																																																				0.493	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		4	326	1	0	0.248553	1	0.254201	4	326				
ALG6	29929	broad.mit.edu	37	1	63876912	63876912	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:63876912T>A	ENST00000371108.4	+	8	895	c.590T>A	c.(589-591)aTa>aAa	p.I197K	ALG6_ENST00000263440.4_Missense_Mutation_p.I199K	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	197					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGCTTAGCTATAAATTATAAA	0.398																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(589-591)aTa>aAa		ALG6, alpha-1,3-glucosyltransferase							171.0	170.0	170.0					1																	63876912		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63876912T>A	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.590T>A	1.37:g.63876912T>A	ENSP00000360149:p.Ile197Lys		Somatic				ALG6_ENST00000263440.4_Missense_Mutation_p.I199K	p.I197K	NM_013339.3	NP_037471.2	WXS	Illumina GAIIx	Phase_I	Q9Y672	ALG6_HUMAN			8	895	+			197					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.590T>A	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614161	0.87359	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.86432	-2.12;-2.12	5.55	5.55	0.83447	.	0.388224	0.27961	N	0.017160	D	0.85323	0.5670	L	0.47716	1.5	0.53688	D	0.999973	P	0.36110	0.537	P	0.46850	0.529	D	0.87684	0.2549	10	0.87932	D	0	-17.3314	16.0062	0.80363	0.0:0.0:0.0:1.0	.	199	A2A2G4	.	K	197;199	ENSP00000360149:I197K;ENSP00000263440:I199K	ENSP00000263440:I199K	I	+	2	0	ALG6	63649500	1.000000	0.71417	0.888000	0.34837	0.893000	0.52053	7.501000	0.81600	2.248000	0.74166	0.533000	0.62120	ATA		0.398	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		6	423	0	0	0	1	0	6	423				
NSDHL	50814	broad.mit.edu	37	X	152018854	152018854	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:152018854C>T	ENST00000370274.3	+	3	348	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	NSDHL_ENST00000440023.1_Missense_Mutation_p.H52Y	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	52					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGGCAGCACATGGTGGA	0.532																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(154-156)Cac>Tac		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						197.0	175.0	182.0					X																	152018854		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152018854C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.154C>T	X.37:g.152018854C>T	ENSP00000359297:p.His52Tyr		Somatic				NSDHL_ENST00000440023.1_Missense_Mutation_p.H52Y	p.H52Y	NM_015922.2	NP_057006.1	WXS	Illumina GAIIx	Phase_I	Q15738	NSDHL_HUMAN			3	348	+	Acute lymphoblastic leukemia(192;6.56e-05)		52					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.154C>T	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	c	15.22	2.769925	0.49680	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.89415	-2.51;-2.51;-2.51	5.51	4.58	0.56647	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.234633	0.50627	N	0.000101	D	0.86226	0.5882	M	0.64676	1.99	0.58432	D	0.999997	B	0.22276	0.067	B	0.25140	0.058	T	0.80921	-0.1166	10	0.35671	T	0.21	-0.0013	9.9571	0.41673	0.0:0.888:0.0:0.112	.	52	Q15738	NSDHL_HUMAN	Y	52	ENSP00000359297:H52Y;ENSP00000391854:H52Y;ENSP00000396266:H52Y	ENSP00000359297:H52Y	H	+	1	0	NSDHL	151769510	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.332000	0.65911	0.979000	0.38497	0.534000	0.68092	CAC		0.532	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		11	520	0	0	0	1	0	11	520				
BAZ1B	9031	broad.mit.edu	37	7	72877314	72877314	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:72877314C>A	ENST00000339594.4	-	12	3525	c.3187G>T	c.(3187-3189)Gca>Tca	p.A1063S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A1063S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1063					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AACCTTGTTGCAACTTCAATG	0.403																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3187-3189)Gca>Tca		bromodomain adjacent to zinc finger domain, 1B							172.0	179.0	177.0					7																	72877314		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72877314C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3187G>T	7.37:g.72877314C>A	ENSP00000342434:p.Ala1063Ser		Somatic				BAZ1B_ENST00000404251.1_Missense_Mutation_p.A1063S	p.A1063S	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			12	3525	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1063					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.3187G>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129254	0.94473	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59906	0.23;0.23	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68036	-0.5515	10	0.51188	T	0.08	-16.5547	18.9869	0.92775	0.0:1.0:0.0:0.0	.	1063	Q9UIG0	BAZ1B_HUMAN	S	1063	ENSP00000342434:A1063S;ENSP00000385442:A1063S	ENSP00000342434:A1063S	A	-	1	0	BAZ1B	72515250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.241000	0.78201	2.738000	0.93877	0.591000	0.81541	GCA		0.403	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		17	468	1	0	0.000422831	1	0.000448923	17	468				
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ACACATATGCATCAGCTAAAT	0.338																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.A152A(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(454-456)gcA>gcC		fibroblast growth factor 7	Palifermin(DB00039)						55.0	53.0	54.0					15																	49776572		2037	3875	5912	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776572A>C	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C			Somatic				FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	p.A152A	NM_002009.3	NP_002000.1	WXS	Illumina GAIIx	Phase_I	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1067	+		all_lung(180;0.00391)	152					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.456A>C	CCDS10131.1																																																																																				0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	74	0	0	0	1	0	3	74				
GNPTAB	79158	broad.mit.edu	37	12	102160008	102160008	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:102160008C>T	ENST00000299314.7	-	12	1735	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	491	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGCCAGGGCTGTCCAACTC	0.493																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1471-1473)caG>caA		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							166.0	148.0	154.0					12																	102160008		2203	4300	6503	SO:0001819	synonymous_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102160008C>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1473G>A	12.37:g.102160008C>T			Somatic					p.Q491Q	NM_024312.4	NP_077288.2	WXS	Illumina GAIIx	Phase_I	Q3T906	GNPTA_HUMAN			12	1735	-			491			Gly-rich.		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.1473G>A	CCDS9088.1																																																																																				0.493	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			4	452	0	0	0	1	0	4	452				
CR1	1378	broad.mit.edu	37	1	207751292	207751292	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207751292G>A	ENST00000367049.4	+	29	4680	c.4680G>A	c.(4678-4680)gaG>gaA	p.E1560E	CR1_ENST00000400960.2_Silent_p.E1110E|CR1_ENST00000367052.1_Silent_p.E1110E|CR1_ENST00000367053.1_Silent_p.E1110E|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.E1110E|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1110	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGTGGGTGAGCCCTCCATAT	0.512																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4678-4680)gaG>gaA		complement component (3b/4b) receptor 1 (Knops blood group)							139.0	137.0	138.0					1																	207751292		1875	4111	5986	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207751292G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4680G>A	1.37:g.207751292G>A			Somatic				CR1_ENST00000367053.1_Silent_p.E1110E|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.E1110E|CR1_ENST00000400960.2_Silent_p.E1110E|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.E1110E	p.E1560E	NM_000651.4	NP_000642.3	WXS	Illumina GAIIx	Phase_I	P17927	CR1_HUMAN			29	4680	+			1110			Sushi 24.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.4680G>A	CCDS44308.1																																																																																				0.512	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		7	578	0	0	0	1	0	7	578				
ANKH	56172	broad.mit.edu	37	5	14711388	14711388	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:14711388T>C	ENST00000284268.6	-	12	1727	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	ANKH_ENST00000535119.1_Missense_Mutation_p.E268G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	466					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCTTCCCCCTCCGTGGCCGA	0.547																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1396-1398)gAg>gGg		ANKH inorganic pyrophosphate transport regulator							236.0	213.0	221.0					5																	14711388		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14711388T>C	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1397A>G	5.37:g.14711388T>C	ENSP00000284268:p.Glu466Gly		Somatic				ANKH_ENST00000535119.1_Missense_Mutation_p.E268G	p.E466G	NM_054027.4	NP_473368.1	WXS	Illumina GAIIx	Phase_I	Q9HCJ1	ANKH_HUMAN			12	1727	-			466					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1397A>G	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370913	0.61624	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.96265	-3.36;-3.96	5.17	5.17	0.71159	.	0.097800	0.64402	D	0.000001	D	0.92116	0.7501	N	0.19112	0.55	0.80722	D	1	B	0.20780	0.048	B	0.18263	0.021	D	0.89504	0.3766	10	0.62326	D	0.03	-22.1011	14.2135	0.65779	0.0:0.0:0.0:1.0	.	466	Q9HCJ1	ANKH_HUMAN	G	268;466	ENSP00000442524:E268G;ENSP00000284268:E466G	ENSP00000284268:E466G	E	-	2	0	ANKH	14764388	1.000000	0.71417	0.989000	0.46669	0.757000	0.42996	6.651000	0.74372	1.953000	0.56701	0.533000	0.62120	GAG		0.547	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		8	1282	0	0	0	1	0	8	1282				
CXCR1	3577	broad.mit.edu	37	2	219029724	219029724	+	Missense_Mutation	SNP	G	G	A	rs1805038	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:219029724G>A	ENST00000295683.2	-	2	331	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	71			R -> C (in dbSNP:rs1805038).		cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GTGACGGAGCGGCCGACCCTG	0.567													G|||	3	0.000599042	0.0	0.0029	5008	,	,		22188	0.0		0.0	False		,,,				2504	0.001					ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(211-213)Cgc>Tgc		chemokine (C-X-C motif) receptor 1							156.0	146.0	149.0					2																	219029724		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029724G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.211C>T	2.37:g.219029724G>A	ENSP00000295683:p.Arg71Cys		Somatic					p.R71C	NM_000634.2	NP_000625.1	WXS	Illumina GAIIx	Phase_I	P25024	CXCR1_HUMAN			2	331	-			71		R -> C (in dbSNP:rs1805038).			B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.211C>T	CCDS2409.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.505	0.865254	0.17250	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.46063	0.88	5.21	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.384012	0.28606	N	0.014747	T	0.39436	0.1078	M	0.67569	2.06	0.58432	D	0.999994	B	0.28820	0.224	B	0.30572	0.117	T	0.23404	-1.0189	10	0.52906	T	0.07	.	7.0832	0.25244	0.0806:0.0:0.6144:0.305	rs1805038;rs4987067;rs1805038	71	P25024	CXCR1_HUMAN	C	71	ENSP00000295683:R71C	ENSP00000295683:R71C	R	-	1	0	CXCR1	218737969	0.000000	0.05858	0.079000	0.20413	0.033000	0.12548	0.254000	0.18314	0.571000	0.29365	0.655000	0.94253	CGC		0.567	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		12	1321	0	0	0	1	0	12	1321				
SEMG1	6406	broad.mit.edu	37	20	43836661	43836661	+	Silent	SNP	G	G	A	rs201859336		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:43836661G>A	ENST00000372781.3	+	2	780	c.723G>A	c.(721-723)gcG>gcA	p.A241A	SEMG1_ENST00000244069.6_Silent_p.A241A	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	241	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTGTCCTGCGCACCAAGACA	0.378																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(721-723)gcG>gcA		semenogelin I		G		0,4406		0,0,2203	112.0	99.0	103.0		723	-3.4	0.0	20		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMG1	NM_003007.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/463	43836661	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836661G>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.723G>A	20.37:g.43836661G>A			Somatic				SEMG1_ENST00000244069.6_Silent_p.A241A	p.A241A	NM_003007.3	NP_002998.1	WXS	Illumina GAIIx	Phase_I					2	780	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.723G>A	CCDS13345.1																																																																																				0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		6	282	0	0	0	1	0	6	282				
ODF4	146852	broad.mit.edu	37	17	8243508	8243508	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8243508T>C	ENST00000328248.2	+	1	327	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	ODF4_ENST00000584943.1_Intron|RP11-849F2.4_ENST00000585275.1_lincRNA	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	47					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GAGACTGCTGTCCTCCACCCT	0.567																																						ENST00000328248.2																			0				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(139-141)Tcc>Ccc		outer dense fiber of sperm tails 4							93.0	86.0	89.0					17																	8243508		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243508T>C	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.139T>C	17.37:g.8243508T>C	ENSP00000331086:p.Ser47Pro		Somatic				ODF4_ENST00000584943.1_Intron	p.S47P	NM_153007.4	NP_694552.2	WXS	Illumina GAIIx	Phase_I	Q2M2E3	ODFP4_HUMAN			1	327	+			47					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.139T>C	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108730	0.37242	.	.	ENSG00000184650	ENST00000328248	T	0.27557	1.66	4.31	-4.55	0.03441	.	6.703310	0.00166	N	0.000017	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	P	0.49090	0.919	B	0.38616	0.277	T	0.16778	-1.0391	10	0.45353	T	0.12	0.3827	4.5058	0.11887	0.2654:0.0:0.422:0.3126	.	47	Q2M2E3	ODFP4_HUMAN	P	47	ENSP00000331086:S47P	ENSP00000331086:S47P	S	+	1	0	ODF4	8184233	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.325000	0.02687	-0.607000	0.05738	-1.086000	0.02197	TCC		0.567	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			5	269	0	0	0	1	0	5	269				
BMPR2	659	broad.mit.edu	37	2	203329534	203329534	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:203329534T>C	ENST00000374580.4	+	2	618	c.79T>C	c.(79-81)Tcg>Ccg	p.S27P	BMPR2_ENST00000374574.2_Missense_Mutation_p.S27P	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	27					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TATTTTAGCTTCGCAGAATCA	0.318																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(79-81)Tcg>Ccg		bone morphogenetic protein receptor, type II (serine/threonine kinase)							57.0	57.0	57.0					2																	203329534		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203329534T>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.79T>C	2.37:g.203329534T>C	ENSP00000363708:p.Ser27Pro		Somatic				BMPR2_ENST00000374574.2_Missense_Mutation_p.S27P	p.S27P	NM_001204.6	NP_001195.2	WXS	Illumina GAIIx	Phase_I	Q13873	BMPR2_HUMAN			2	618	+			27					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.79T>C	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208321	0.39003	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.89415	-2.51;-2.38	5.3	5.3	0.74995	.	0.229622	0.45126	D	0.000391	T	0.76198	0.3954	N	0.19112	0.55	0.36605	D	0.87489	B;P;P	0.37955	0.38;0.612;0.612	B;B;B	0.32533	0.147;0.143;0.143	T	0.76737	-0.2849	10	0.27785	T	0.31	.	5.8133	0.18477	0.2453:0.0:0.2135:0.5412	.	27;27;27	Q13161;Q13873;A8K8R5	.;BMPR2_HUMAN;.	P	27	ENSP00000363708:S27P;ENSP00000363702:S27P	ENSP00000363702:S27P	S	+	1	0	BMPR2	203037779	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.861000	0.39438	2.004000	0.58718	0.496000	0.49642	TCG		0.318	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		4	147	0	0	0	1	0	4	147				
DCAF4	26094	broad.mit.edu	37	14	73420870	73420870	+	Splice_Site	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:73420870A>G	ENST00000358377.2	+	10	1028		c.e10-1		DCAF4_ENST00000553457.1_Splice_Site|DCAF4_ENST00000509153.1_Splice_Site_p.A209A|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000555042.1_Splice_Site_p.A270A|DCAF4_ENST00000353777.3_Intron	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCCCCTTAGCAGGAATAGACC	0.537																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.e9-1		DDB1 and CUL4 associated factor 4							188.0	191.0	190.0					14																	73420870		2203	4300	6503	SO:0001630	splice_region_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73420870A>G	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.809-1A>G	14.37:g.73420870A>G			Somatic				DCAF4_ENST00000509153.1_Splice_Site_p.A209_splice|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Splice_Site_p.A270_splice				WXS	Illumina GAIIx	Phase_I	Q8WV16	DCAF4_HUMAN			9	798	+								B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Splice_Site	SNP	ENST00000358377.2	37		CCDS9809.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836175	0.32421	.	.	ENSG00000119599	ENST00000358377;ENST00000394234;ENST00000553457	.	.	.	4.75	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.21861	N	0.999502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0086	0.19562	0.5231:0.3218:0.0:0.1551	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF4	72490623	0.967000	0.33354	0.273000	0.24645	0.251000	0.25915	1.976000	0.40579	0.913000	0.36797	0.523000	0.50628	.		0.537	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604	Intron	13	933	0	0	0	1	0	13	933				
LCP1	3936	broad.mit.edu	37	13	46701809	46701809	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:46701809G>A	ENST00000398576.2	-	19	2189	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S	LCP1_ENST00000323076.2_Missense_Mutation_p.P601S|LCP1_ENST00000435666.2_Missense_Mutation_p.P170S			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	601	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGGTCTTCTGGCAGGGCATAC	0.498			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1801-1803)Cca>Tca		lymphocyte cytosolic protein 1 (L-plastin)							196.0	182.0	186.0					13																	46701809		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701809G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1801C>T	13.37:g.46701809G>A	ENSP00000381581:p.Pro601Ser		Somatic				LCP1_ENST00000435666.2_Missense_Mutation_p.P170S|LCP1_ENST00000323076.2_Missense_Mutation_p.P601S	p.P601S			WXS	Illumina GAIIx	Phase_I	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	19	2189	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	601			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1801C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221831	0.95139	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.96685	-4.09;-4.09;-4.09	5.72	5.72	0.89469	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.995;1.0	D	0.99236	1.0883	10	0.72032	D	0.01	-10.237	19.2318	0.93843	0.0:0.0:1.0:0.0	.	170;601	B4DUA0;P13796	.;PLSL_HUMAN	S	601;601;170	ENSP00000315757:P601S;ENSP00000381581:P601S;ENSP00000405134:P170S	ENSP00000315757:P601S	P	-	1	0	LCP1	45599810	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	CCA		0.498	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		9	1259	0	0	0	1	0	9	1259				
FNDC3A	22862	broad.mit.edu	37	13	49772609	49772609	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:49772609T>C	ENST00000492622.2	+	23	3191	c.2886T>C	c.(2884-2886)ttT>ttC	p.F962F	FNDC3A_ENST00000541916.1_Silent_p.F962F|FNDC3A_ENST00000398316.3_Silent_p.F906F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	962	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.F962F(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTGTTGCCTTTAGCCACCAGA	0.448																																						ENST00000492622.2																			1	Substitution - coding silent(1)	p.F962F(1)	kidney(1)	endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2884-2886)ttT>ttC		fibronectin type III domain containing 3A							142.0	129.0	133.0					13																	49772609		2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49772609T>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2886T>C	13.37:g.49772609T>C			Somatic				FNDC3A_ENST00000541916.1_Silent_p.F962F|FNDC3A_ENST00000398316.3_Silent_p.F906F	p.F962F	NM_001079673.1	NP_001073141.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	23	3191	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	962			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.2886T>C	CCDS41886.1																																																																																				0.448	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		8	716	0	0	0	1	0	8	716				
LRRCC1	85444	broad.mit.edu	37	8	86019572	86019572	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:86019572G>T	ENST00000360375.3	+	1	191	c.42G>T	c.(40-42)gtG>gtT	p.V14V	LRRCC1_ENST00000414626.2_5'Flank	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	14					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V14V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						aggcggAAGTGGAAAACGAAG	0.667																																						ENST00000360375.3																			1	Substitution - coding silent(1)	p.V14V(1)	kidney(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(40-42)gtG>gtT		leucine rich repeat and coiled-coil centrosomal protein 1							25.0	40.0	35.0					8																	86019572		1916	4126	6042	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86019572G>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.42G>T	8.37:g.86019572G>T			Somatic					p.V14V	NM_033402.4	NP_208325.3	WXS	Illumina GAIIx	Phase_I	Q9C099	LRCC1_HUMAN			1	191	+			14					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.42G>T	CCDS43750.1																																																																																				0.667	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		10	12	1	0	4.36969e-10	1	4.78702e-10	10	12				
ATP10D	57205	broad.mit.edu	37	4	47538567	47538567	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:47538567A>C	ENST00000273859.3	+	8	1398	c.1129A>C	c.(1129-1131)Atc>Ctc	p.I377L	ATP10D_ENST00000504445.1_Missense_Mutation_p.I377L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	377					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGGACCATGATCATTTTGTT	0.353																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1129-1131)Atc>Ctc		ATPase, class V, type 10D							248.0	243.0	244.0					4																	47538567		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538567A>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1129A>C	4.37:g.47538567A>C	ENSP00000273859:p.Ile377Leu		Somatic				ATP10D_ENST00000504445.1_Missense_Mutation_p.I377L	p.I377L	NM_020453.3	NP_065186.3	WXS	Illumina GAIIx	Phase_I	Q9P241	AT10D_HUMAN			8	1398	+			377					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1129A>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.170478	0.78452	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.89810	-2.57;-2.32	5.26	4.08	0.47627	ATPase, P-type, ATPase-associated domain (1);	0.063504	0.64402	D	0.000006	D	0.90253	0.6952	L	0.45285	1.41	0.46458	D	0.999059	P;P	0.51351	0.944;0.859	P;P	0.61940	0.896;0.759	D	0.89212	0.3565	10	0.56958	D	0.05	-12.8758	10.0006	0.41927	0.9206:0.0:0.0794:0.0	.	377;377	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	377	ENSP00000273859:I377L;ENSP00000420909:I377L	ENSP00000273859:I377L	I	+	1	0	ATP10D	47233324	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.537000	0.60643	0.857000	0.35407	0.533000	0.62120	ATC		0.353	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		5	156	0	0	0	1	0	5	156				
KRT74	121391	broad.mit.edu	37	12	52966401	52966401	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:52966401C>T	ENST00000305620.2	-	2	569	c.522G>A	c.(520-522)ctG>ctA	p.L174L	KRT74_ENST00000549343.1_Silent_p.L174L	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	174	Coil 1A.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTGCTGCAGCAGCTCCCACT	0.552																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(520-522)ctG>ctA		keratin 74							120.0	110.0	113.0					12																	52966401		2203	4300	6503	SO:0001819	synonymous_variant	121391					keratin filament	structural molecule activity	g.chr12:52966401C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.522G>A	12.37:g.52966401C>T			Somatic				KRT74_ENST00000305620.2_Silent_p.L174L	p.L174L			WXS	Illumina GAIIx	Phase_I	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	2	560	-			174			Coil 1A.|Rod.		B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	c.522G>A	CCDS8832.1																																																																																				0.552	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		4	184	0	0	0	1	0	4	184				
IGKV1-16	28938	broad.mit.edu	37	2	89399455	89399455	+	RNA	SNP	T	T	C	rs193208674		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:89399455T>C	ENST00000479981.1	-	0	274									immunoglobulin kappa variable 1-16																		GCCGCTGAACTTTGATGGGAC	0.468																																						ENST00000479981.1																			0																				133.0	125.0	128.0					2																	89399455		1868	4096	5964			28938							g.chr2:89399455T>C	J00248		2p11.2	2012-02-10			ENSG00000240864	ENSG00000240864		"""Immunoglobulins / IGK locus"""	5732	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV116, L1			OTTHUMG00000151649		2.37:g.89399455T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	274	-									RNA	SNP	ENST00000479981.1	37																																																																																						0.468	IGKV1-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323398.1	NG_000834		38	681	0	0	0	1	0	38	681				
FDFT1	2222	broad.mit.edu	37	8	11689141	11689141	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:11689141C>A	ENST00000220584.4	+	7	1216	c.994C>A	c.(994-996)Cca>Aca	p.P332T	FDFT1_ENST00000525900.1_Missense_Mutation_p.P325T|FDFT1_ENST00000530664.1_Missense_Mutation_p.P268T|FDFT1_ENST00000443614.2_Missense_Mutation_p.P289T|FDFT1_ENST00000538689.1_Missense_Mutation_p.P221T|FDFT1_ENST00000525777.1_Missense_Mutation_p.P247T|FDFT1_ENST00000528643.1_Missense_Mutation_p.P247T|FDFT1_ENST00000528812.1_Missense_Mutation_p.P268T|FDFT1_ENST00000446331.2_3'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	332					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CACCAATATGCCAGCTGTCAA	0.408																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(994-996)Cca>Aca		farnesyl-diphosphate farnesyltransferase 1							205.0	196.0	199.0					8																	11689141		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11689141C>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.994C>A	8.37:g.11689141C>A	ENSP00000220584:p.Pro332Thr		Somatic				FDFT1_ENST00000528643.1_Missense_Mutation_p.P247T|FDFT1_ENST00000528812.1_Missense_Mutation_p.P268T|FDFT1_ENST00000443614.2_Missense_Mutation_p.P289T|FDFT1_ENST00000525900.1_Missense_Mutation_p.P325T|FDFT1_ENST00000525777.1_Missense_Mutation_p.P247T|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000538689.1_Missense_Mutation_p.P221T|FDFT1_ENST00000530664.1_Missense_Mutation_p.P268T	p.P332T	NM_004462.3	NP_004453.3	WXS	Illumina GAIIx	Phase_I	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	7	1216	+	all_epithelial(15;0.234)		332					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.994C>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	9.348	1.064690	0.20067	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	6.07	5.2	0.72013	Terpenoid synthase (2);	0.494319	0.23433	N	0.048236	T	0.49167	0.1541	N	0.14661	0.345	0.29665	N	0.842902	B;B;B;B;B	0.22346	0.015;0.04;0.068;0.025;0.025	B;B;B;B;B	0.12156	0.004;0.004;0.007;0.004;0.004	T	0.41484	-0.9506	10	0.13108	T	0.6	-8.0672	9.8724	0.41182	0.0:0.7886:0.1392:0.0722	.	165;289;389;325;332	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	T	221;332;289;325;268;268;247;247	ENSP00000444248:P221T;ENSP00000220584:P332T;ENSP00000390367:P289T;ENSP00000434714:P325T;ENSP00000431749:P268T;ENSP00000432331:P268T;ENSP00000431649:P247T;ENSP00000436069:P247T	ENSP00000220584:P332T	P	+	1	0	FDFT1	11726550	0.983000	0.35010	1.000000	0.80357	0.953000	0.61014	0.746000	0.26275	1.582000	0.49881	0.655000	0.94253	CCA		0.408	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			34	615	1	0	2.51541e-25	1	2.79756e-25	34	615				
GGA2	23062	broad.mit.edu	37	16	23480293	23480293	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:23480293C>T	ENST00000309859.4	-	16	1727	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	549	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GAGCTGGATGCCGGCTGCAGC	0.493																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(1645-1647)Gca>Aca		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							87.0	81.0	83.0					16																	23480293		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23480293C>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1645G>A	16.37:g.23480293C>T	ENSP00000311962:p.Ala549Thr		Somatic				GGA2_ENST00000567468.1_Intron	p.A549T	NM_015044.4	NP_055859.1	WXS	Illumina GAIIx	Phase_I	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	16	1727	-			549			GAE.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1645G>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488740	0.84962	.	.	ENSG00000103365	ENST00000309859	T	0.32515	1.45	5.73	5.73	0.89815	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.059618	0.64402	D	0.000003	T	0.54046	0.1834	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50701	-0.8797	10	0.44086	T	0.13	-18.3214	14.1168	0.65159	0.0:0.8496:0.1504:0.0	.	549	Q9UJY4	GGA2_HUMAN	T	549	ENSP00000311962:A549T	ENSP00000311962:A549T	A	-	1	0	GGA2	23387794	0.980000	0.34600	0.697000	0.30258	0.984000	0.73092	1.977000	0.40589	2.704000	0.92352	0.650000	0.86243	GCA		0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			4	238	0	0	0	1	0	4	238				
CETN1	1068	broad.mit.edu	37	18	580860	580860	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:580860G>A	ENST00000327228.3	+	1	494	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	151	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GAAGCTGATCGGGATGGGGAC	0.542																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(451-453)cGg>cAg		centrin, EF-hand protein, 1							87.0	85.0	86.0					18																	580860		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580860G>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.452G>A	18.37:g.580860G>A	ENSP00000319052:p.Arg151Gln		Somatic					p.R151Q	NM_004066.1	NP_004057.1	WXS	Illumina GAIIx	Phase_I	Q12798	CETN1_HUMAN			1	494	+			151			EF-hand 4.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.452G>A	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813918	0.32053	.	.	ENSG00000177143	ENST00000327228	T	0.79554	-1.28	5.2	4.34	0.51931	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);EF-hand-like domain (1);	0.139303	0.44688	D	0.000433	T	0.63674	0.2531	N	0.10782	0.045	0.58432	D	0.999999	B	0.21381	0.055	B	0.21917	0.037	T	0.59343	-0.7472	10	0.28530	T	0.3	.	11.8592	0.52457	0.0845:0.0:0.9155:0.0	.	151	Q12798	CETN1_HUMAN	Q	151	ENSP00000319052:R151Q	ENSP00000319052:R151Q	R	+	2	0	CETN1	570860	0.997000	0.39634	0.019000	0.16419	0.014000	0.08584	7.721000	0.84768	1.581000	0.49865	0.655000	0.94253	CGG		0.542	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		6	197	0	0	0	1	0	6	197				
SALL1	6299	broad.mit.edu	37	16	51175240	51175240	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:51175240C>G	ENST00000251020.4	-	2	926	c.893G>C	c.(892-894)gGa>gCa	p.G298A	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G201A|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	298					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGTGCCAATCCAGCTGCTGC	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(601-603)gGa>gCa		spalt-like transcription factor 1							78.0	81.0	80.0					16																	51175240		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175240C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.893G>C	16.37:g.51175240C>G	ENSP00000251020:p.Gly298Ala		Somatic				SALL1_ENST00000251020.4_Missense_Mutation_p.G298A|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.G201A	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1033	-		all_cancers(37;0.0322)	298					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.602G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487763	0.26686	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.05717	3.4;3.44	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	N	0.20881	0.62	0.80722	D	1	D	0.67145	0.996	P	0.58210	0.835	T	0.34204	-0.9838	10	0.08381	T	0.77	-9.3629	17.9375	0.89017	0.0:1.0:0.0:0.0	.	298	Q9NSC2	SALL1_HUMAN	A	298;201;262	ENSP00000251020:G298A;ENSP00000407914:G201A	ENSP00000251020:G298A	G	-	2	0	SALL1	49732741	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.637000	0.83313	2.445000	0.82738	0.491000	0.48974	GGA		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		10	392	0	0	0	1	0	10	392				
NCK1	4690	broad.mit.edu	37	3	136664749	136664749	+	Missense_Mutation	SNP	A	A	G	rs145545353	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:136664749A>G	ENST00000481752.1	+	3	715	c.551A>G	c.(550-552)aAt>aGt	p.N184S	NCK1_ENST00000469404.1_Missense_Mutation_p.N120S|NCK1_ENST00000288986.2_Missense_Mutation_p.N184S			P16333	NCK1_HUMAN	NCK adaptor protein 1	184					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCAGTCGTCAATAACCTAAAT	0.423																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(358-360)aAt>aGt		NCK adaptor protein 1		A	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	188.0	184.0	185.0		359,551	-0.8	1.0	3	dbSNP_134	185	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NCK1	NM_001190796.1,NM_006153.4	46,46	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	benign,benign	120/314,184/378	136664749	3,13003	2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664749A>G	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.551A>G	3.37:g.136664749A>G	ENSP00000417273:p.Asn184Ser		Somatic				NCK1_ENST00000481752.1_Missense_Mutation_p.N184S|NCK1_ENST00000288986.2_Missense_Mutation_p.N184S	p.N120S	NM_001190796.1	NP_001177725.1	WXS	Illumina GAIIx	Phase_I	P16333	NCK1_HUMAN			2	450	+			184			SH3 2.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.359A>G	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	A	1.869	-0.460758	0.04508	2.27E-4	2.33E-4	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.66815	-0.18;-0.18;-0.23	6.16	-0.774	0.10991	.	0.182172	0.56097	N	0.000024	T	0.39036	0.1063	N	0.13043	0.29	0.37598	D	0.920467	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.42732	-0.9434	10	0.02654	T	1	-12.3676	10.2398	0.43305	0.6323:0.0:0.3677:0.0	.	120;184	B7Z751;P16333	.;NCK1_HUMAN	S	184;184;120	ENSP00000288986:N184S;ENSP00000417273:N184S;ENSP00000419631:N120S	ENSP00000288986:N184S	N	+	2	0	NCK1	138147439	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	1.986000	0.40677	-0.316000	0.08690	-0.263000	0.10527	AAT		0.423	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		5	469	0	0	0	1	0	5	469				
PEX3	8504	broad.mit.edu	37	6	143811741	143811741	+	IGR	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:143811741T>A	ENST00000367591.4	+	0	1969				RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3						peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TAAAACCTGATTTGAAAACAA	0.433																																						ENST00000591892.1																			0																																																	SO:0001628	intergenic_variant	100310840							g.chr6:143811741T>A	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730		6.37:g.143811741T>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	270	+								Q6FGP5	RNA	SNP	ENST00000367591.4	37		CCDS5199.1																																																																																				0.433	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			7	11	0	0	0	1	0	7	11				
PLBD2	196463	broad.mit.edu	37	12	113824827	113824827	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:113824827C>A	ENST00000280800.3	+	10	1403	c.1372C>A	c.(1372-1374)Cgg>Agg	p.R458R	PLBD2_ENST00000545182.2_Silent_p.R426R	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	458					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGGAGCCCCCGGGCCCAGAT	0.607																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1372-1374)Cgg>Agg		phospholipase B domain containing 2							70.0	74.0	73.0					12																	113824827		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824827C>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1372C>A	12.37:g.113824827C>A			Somatic				PLBD2_ENST00000545182.2_Silent_p.R426R	p.R458R	NM_173542.3	NP_775813.2	WXS	Illumina GAIIx	Phase_I	Q8NHP8	PLBL2_HUMAN			10	1403	+			458					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1372C>A	CCDS9168.1																																																																																				0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		38	458	1	0	5.2432e-18	1	5.82025e-18	38	458				
MUC16	94025	broad.mit.edu	37	19	9089833	9089833	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9089833C>T	ENST00000397910.4	-	1	2185	c.1982G>A	c.(1981-1983)gGc>gAc	p.G661D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	661	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACTTGAGCCAGCAGCCGT	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1981-1983)gGc>gAc		mucin 16, cell surface associated							125.0	126.0	126.0					19																	9089833		2069	4217	6286	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089833C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1982G>A	19.37:g.9089833C>T	ENSP00000381008:p.Gly661Asp		Somatic					p.G661D	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	2185	-			661			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1982G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.610	-0.079842	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.03553	3.89	1.56	-0.711	0.11230	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	.	.	.	B	0.27166	0.17	B	0.25405	0.06	T	0.42430	-0.9452	8	0.87932	D	0	.	3.9441	0.09341	0.0:0.5505:0.0:0.4495	.	661	B5ME49	.	D	661	ENSP00000381008:G661D	ENSP00000381008:G661D	G	-	2	0	MUC16	8950833	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.195000	0.03043	-0.140000	0.11394	0.205000	0.17691	GGC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	1009	0	0	0	1	0	9	1009				
EXPH5	23086	broad.mit.edu	37	11	108385347	108385347	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:108385347T>A	ENST00000265843.4	-	6	997	c.887A>T	c.(886-888)gAt>gTt	p.D296V	EXPH5_ENST00000525344.1_Missense_Mutation_p.D289V|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.D108V|EXPH5_ENST00000428840.1_Missense_Mutation_p.D220V	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	296					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTATACATATCATAAATTGT	0.393																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(886-888)gAt>gTt		exophilin 5							74.0	71.0	72.0					11																	108385347		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385347T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.887A>T	11.37:g.108385347T>A	ENSP00000265843:p.Asp296Val		Somatic				EXPH5_ENST00000428840.1_Missense_Mutation_p.D220V|EXPH5_ENST00000443411.1_Missense_Mutation_p.D108V|EXPH5_ENST00000525344.1_Missense_Mutation_p.D289V|EXPH5_ENST00000524840.1_5'UTR	p.D296V	NM_015065.2	NP_055880.2	WXS	Illumina GAIIx	Phase_I	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	997	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	296					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.887A>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091944	0.55968	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.08896	3.6;3.52;3.37;3.6;3.39;3.04	5.58	5.58	0.84498	.	0.097786	0.44902	D	0.000407	T	0.21347	0.0514	M	0.66939	2.045	0.48087	D	0.999582	D	0.67145	0.996	D	0.66497	0.944	T	0.01232	-1.1411	10	0.87932	D	0	-12.18	6.0415	0.19736	0.0:0.0831:0.1661:0.7508	.	296	Q8NEV8	EXPH5_HUMAN	V	296;220;108;289;140;220;108	ENSP00000265843:D296V;ENSP00000391966:D220V;ENSP00000411390:D108V;ENSP00000432546:D289V;ENSP00000432683:D220V;ENSP00000446434:D108V	ENSP00000265843:D296V	D	-	2	0	EXPH5	107890557	0.993000	0.37304	1.000000	0.80357	0.938000	0.57974	1.454000	0.35178	2.116000	0.64780	0.482000	0.46254	GAT		0.393	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		3	103	0	0	0	1	0	3	103				
KDM7A	80853	broad.mit.edu	37	7	139801846	139801846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139801846G>A	ENST00000397560.2	-	12	1640	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	JHDM1D_ENST00000006967.5_Nonsense_Mutation_p.R515*	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		515					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTATGATCTCGAAGTTTCCTC	0.448																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1543-1545)Cga>Tga									216.0	194.0	201.0					7																	139801846		1875	4106	5981	SO:0001587	stop_gained	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139801846G>A																												ENST00000397560.2:c.1543C>T	7.37:g.139801846G>A	ENSP00000380692:p.Arg515*		Somatic				JHDM1D_ENST00000006967.5_Nonsense_Mutation_p.R515*	p.R515*	NM_030647.1	NP_085150.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT4	KDM7_HUMAN			12	1640	-	Melanoma(164;0.0142)		515					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Nonsense_Mutation	SNP	ENST00000397560.2	37	c.1543C>T	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.908150	0.97928	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	.	.	.	5.86	4.98	0.66077	.	0.070015	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7654	16.4184	0.83750	0.0:0.0:0.8674:0.1326	.	.	.	.	X	515	.	ENSP00000006967:R515X	R	-	1	2	JHDM1D	139448315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.225000	0.51246	1.457000	0.47850	0.655000	0.94253	CGA		0.448	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			11	866	0	0	0	1	0	11	866				
KLHL6	89857	broad.mit.edu	37	3	183226024	183226024	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183226024C>T	ENST00000341319.3	-	3	767	c.732G>A	c.(730-732)cgG>cgA	p.R244R		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	244	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGCTTGTGCCGGACCCAGC	0.562																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(730-732)cgG>cgA		kelch-like family member 6							151.0	131.0	137.0					3																	183226024		2203	4300	6503	SO:0001819	synonymous_variant	89857							g.chr3:183226024C>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.732G>A	3.37:g.183226024C>T			Somatic					p.R244R	NM_130446.2	NP_569713.2	WXS	Illumina GAIIx	Phase_I	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		3	767	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		244			BACK.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.732G>A	CCDS3245.2																																																																																				0.562	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		4	352	0	0	0	1	0	4	352				
GALNTL6	442117	broad.mit.edu	37	4	173232867	173232867	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:173232867C>A	ENST00000506823.1	+	4	1007	c.350C>A	c.(349-351)gCt>gAt	p.A117D	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.A100D	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	117					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACAATATTGCTCTAGAGAGG	0.393																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(349-351)gCt>gAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							168.0	173.0	171.0					4																	173232867		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173232867C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.350C>A	4.37:g.173232867C>A	ENSP00000423313:p.Ala117Asp		Somatic				GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.A100D	p.A117D	NM_001034845.2	NP_001030017.2	WXS	Illumina GAIIx	Phase_I	Q49A17	GLTL6_HUMAN			4	1007	+			117					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.350C>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170734	0.57584	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.56611	0.45;0.45	4.47	4.47	0.54385	.	0.000000	0.35936	N	0.002889	T	0.54727	0.1876	M	0.67569	2.06	0.52099	D	0.999946	P	0.41313	0.745	B	0.39379	0.298	T	0.64964	-0.6283	10	0.72032	D	0.01	.	17.4948	0.87714	0.0:1.0:0.0:0.0	.	117	Q49A17	GLTL6_HUMAN	D	117;117;100	ENSP00000423313:A117D;ENSP00000423827:A100D	ENSP00000385382:A117D	A	+	2	0	GALNTL6	173469442	1.000000	0.71417	0.999000	0.59377	0.248000	0.25809	7.139000	0.77314	2.199000	0.70637	0.462000	0.41574	GCT		0.393	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		4	400	1	0	1	1	1	4	400				
SCUBE3	222663	broad.mit.edu	37	6	35211519	35211519	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:35211519C>T	ENST00000274938.7	+	16	2058	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	SCUBE3_ENST00000394681.1_Silent_p.V702V	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCACCAACGTCACCACGTGTG	0.632																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(2056-2058)gtC>gtT		signal peptide, CUB domain, EGF-like 3							58.0	59.0	59.0					6																	35211519		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35211519C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2058C>T	6.37:g.35211519C>T			Somatic				SCUBE3_ENST00000394681.1_Silent_p.V702V	p.V686V	NM_152753.2	NP_689966.2	WXS	Illumina GAIIx	Phase_I	Q8IX30	SCUB3_HUMAN			16	2058	+			686						Silent	SNP	ENST00000274938.7	37	c.2058C>T	CCDS4800.1																																																																																				0.632	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		4	196	0	0	0	1	0	4	196				
IFT140	9742	broad.mit.edu	37	16	1575967	1575967	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:1575967G>A	ENST00000426508.2	-	21	3052	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	TMEM204_ENST00000253934.5_5'Flank|IFT140_ENST00000361339.5_Missense_Mutation_p.R91C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	897					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGGTGCACGCGATCGTGGTGC	0.687																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2689-2691)Cgc>Tgc		intraflagellar transport 140 homolog (Chlamydomonas)							35.0	32.0	33.0					16																	1575967		2183	4291	6474	SO:0001583	missense	9742							g.chr16:1575967G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2689C>T	16.37:g.1575967G>A	ENSP00000406012:p.Arg897Cys		Somatic				IFT140_ENST00000361339.5_Missense_Mutation_p.R91C	p.R897C	NM_014714.3	NP_055529.2	WXS	Illumina GAIIx	Phase_I	Q96RY7	IF140_HUMAN			21	3052	-		Hepatocellular(780;0.219)	897					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2689C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795301	0.70452	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.56776	0.44;0.44	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.84363	0.0539	10	0.66056	D	0.02	.	16.8983	0.86106	0.0:0.0:1.0:0.0	.	897;584	Q96RY7;B4DR58	IF140_HUMAN;.	C	897;91;897	ENSP00000354895:R91C;ENSP00000406012:R897C	ENSP00000354895:R91C	R	-	1	0	IFT140	1515968	1.000000	0.71417	0.981000	0.43875	0.028000	0.11728	7.733000	0.84916	2.514000	0.84764	0.561000	0.74099	CGC		0.687	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		2	4	0	0	0	1	0	2	4				
RET	5979	broad.mit.edu	37	10	43606730	43606730	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:43606730G>A	ENST00000355710.3	+	7	1571	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	RET_ENST00000340058.5_Missense_Mutation_p.A447T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	447					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCCTCTGGTGCCAACTGCAG	0.592		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1339-1341)Gcc>Acc		ret proto-oncogene	Sunitinib(DB01268)						134.0	117.0	123.0					10																	43606730		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606730G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1339G>A	10.37:g.43606730G>A	ENSP00000347942:p.Ala447Thr		Somatic				RET_ENST00000340058.5_Missense_Mutation_p.A447T	p.A447T	NM_020975.4	NP_066124.1	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			7	1571	+		Ovarian(717;0.0423)	447					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1339G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	6.544	0.468707	0.12461	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.78364	-1.06;-1.17	5.61	-7.85	0.01192	.	0.817027	0.11906	N	0.518104	T	0.56688	0.2002	L	0.34521	1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.0;0.003	T	0.36939	-0.9727	10	0.27785	T	0.31	.	5.8984	0.18951	0.5833:0.0785:0.1875:0.1507	.	193;447;447	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	447	ENSP00000347942:A447T;ENSP00000344798:A447T	ENSP00000344798:A447T	A	+	1	0	RET	42926736	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.235000	0.02928	-1.264000	0.02452	-0.254000	0.11334	GCC		0.592	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		5	213	0	0	0	1	0	5	213				
ANKRD22	118932	broad.mit.edu	37	10	90591657	90591657	+	Nonsense_Mutation	SNP	G	G	A	rs377061999		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:90591657G>A	ENST00000371930.4	-	2	358	c.148C>T	c.(148-150)Cga>Tga	p.R50*		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	50										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ACATGCCCTCGCCTGCAAGCA	0.463																																						ENST00000371930.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(148-150)Cga>Tga		ankyrin repeat domain 22		G	stop/ARG	0,4406		0,0,2203	240.0	224.0	229.0		148	0.6	0.4	10		229	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ANKRD22	NM_144590.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		50/192	90591657	1,13005	2203	4300	6503	SO:0001587	stop_gained	118932							g.chr10:90591657G>A	BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.148C>T	10.37:g.90591657G>A	ENSP00000360998:p.Arg50*		Somatic					p.R50*	NM_144590.2	NP_653191.2	WXS	Illumina GAIIx	Phase_I	Q5VYY1	ANR22_HUMAN		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)	2	358	-		Colorectal(252;0.0163)	50					B2R9Y7|Q8WU06	Nonsense_Mutation	SNP	ENST00000371930.4	37	c.148C>T	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459852	0.63401	0.0	1.16E-4	ENSG00000152766	ENST00000371930	.	.	.	5.33	0.652	0.17823	.	0.184558	0.47852	D	0.000203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-5.1368	14.2845	0.66238	0.0:0.0:0.2821:0.7179	.	.	.	.	X	50	.	ENSP00000360998:R50X	R	-	1	2	ANKRD22	90581637	0.148000	0.22702	0.430000	0.26722	0.071000	0.16799	1.010000	0.29898	0.113000	0.18004	0.561000	0.74099	CGA		0.463	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		11	1199	0	0	0	1	0	11	1199				
NDUFS6	4726	broad.mit.edu	37	5	1801536	1801536	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:1801536C>A	ENST00000274137.5	+	1	23	c.5C>A	c.(4-6)gCg>gAg	p.A2E	MRPL36_ENST00000508987.1_5'Flank|MRPL36_ENST00000505818.1_5'Flank|MRPL36_ENST00000382647.7_5'Flank|NDUFS6_ENST00000469176.1_Missense_Mutation_p.A2E|NDUFS6_ENST00000510329.1_3'UTR|MRPL36_ENST00000505059.2_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	2					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CGCAAAATGGCGGCGGCGATG	0.687																																						ENST00000274137.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(4-6)gCg>gAg		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						10.0	15.0	13.0					5																	1801536		2044	4068	6112	SO:0001583	missense	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1801536C>A	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.5C>A	5.37:g.1801536C>A	ENSP00000274137:p.Ala2Glu		Somatic				NDUFS6_ENST00000469176.1_Missense_Mutation_p.A2E|NDUFS6_ENST00000510329.1_3'UTR	p.A2E	NM_004553.4	NP_004544.1	WXS	Illumina GAIIx	Phase_I	O75380	NDUS6_HUMAN			1	23	+			2						Missense_Mutation	SNP	ENST00000274137.5	37	c.5C>A	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708949	0.48517	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.78924	-1.22	4.04	3.17	0.36434	.	0.188025	0.43416	D	0.000566	D	0.84469	0.5479	M	0.84219	2.685	0.33591	D	0.601156	D	0.64830	0.994	P	0.57911	0.829	D	0.88672	0.3196	10	0.87932	D	0	-28.8628	9.2719	0.37677	0.0:0.8951:0.0:0.1049	.	2	O75380	NDUS6_HUMAN	E	2	ENSP00000274137:A2E	ENSP00000274137:A2E	A	+	2	0	NDUFS6	1854536	1.000000	0.71417	0.991000	0.47740	0.090000	0.18270	1.618000	0.36954	1.060000	0.40578	-0.142000	0.14014	GCG		0.687	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		3	30	1	0	0.014758	1	0.015362	3	30				
GABPB2	126626	broad.mit.edu	37	1	151076146	151076146	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151076146C>T	ENST00000368918.3	+	6	1062	c.731C>T	c.(730-732)gCc>gTc	p.A244V	GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368917.1_Intron|GABPB2_ENST00000368916.1_Intron	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	244					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TCACACAGAGCCACAGGTAGG	0.433																																						ENST00000368918.3																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15						c.(730-732)gCc>gTc		GA binding protein transcription factor, beta subunit 2							94.0	88.0	90.0					1																	151076146		2203	4300	6503	SO:0001583	missense	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151076146C>T		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.731C>T	1.37:g.151076146C>T	ENSP00000357914:p.Ala244Val		Somatic				GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron|GABPB2_ENST00000467551.1_Intron	p.A244V	NM_144618.2	NP_653219.1	WXS	Illumina GAIIx	Phase_I	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	6	1062	+			244					B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	c.731C>T	CCDS983.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288725	0.40494	.	.	ENSG00000143458	ENST00000368918;ENST00000446567	T	0.58060	0.36	5.28	2.37	0.29283	.	0.746735	0.12210	N	0.489432	T	0.18341	0.0440	N	0.22421	0.69	0.80722	D	1	B;B;B	0.14438	0.01;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.002	T	0.07065	-1.0792	10	0.35671	T	0.21	-9.6684	7.4552	0.27261	0.0:0.7302:0.0:0.2698	.	260;244;244	B4DXA3;B2R924;Q8TAK5	.;.;GABP2_HUMAN	V	244;260	ENSP00000357914:A244V	ENSP00000357914:A244V	A	+	2	0	GABPB2	149342770	0.325000	0.24660	0.985000	0.45067	0.710000	0.40934	1.155000	0.31700	0.356000	0.24157	0.543000	0.68304	GCC		0.433	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		4	147	0	0	0	1	0	4	147				
ITGA3	3675	broad.mit.edu	37	17	48154790	48154790	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48154790C>G	ENST00000320031.8	+	16	2448	c.2118C>G	c.(2116-2118)aaC>aaG	p.N706K	ITGA3_ENST00000007722.7_Missense_Mutation_p.N706K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	706					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AGCTGGGGAACCCCTTCAAAC	0.592																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2116-2118)aaC>aaG		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							105.0	96.0	99.0					17																	48154790		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48154790C>G	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2118C>G	17.37:g.48154790C>G	ENSP00000315190:p.Asn706Lys		Somatic				ITGA3_ENST00000007722.7_Missense_Mutation_p.N706K	p.N706K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	WXS	Illumina GAIIx	Phase_I	P26006	ITA3_HUMAN			16	2448	+			706					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2118C>G	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.657624|3.657624	0.67586|0.67586	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031|ENST00000506827	T;T|.	0.56444|.	0.46;0.46|.	5.32|5.32	3.22|3.22	0.36961|0.36961	Integrin alpha-2 (1);|.	0.092857|.	0.64402|.	D|.	0.000001|.	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77557|.	0.961;0.99|.	T|T	0.76607|0.76607	-0.2897|-0.2897	10|5	0.87932|.	D|.	0|.	.|.	11.1735|11.1735	0.48586|0.48586	0.0:0.8257:0.0:0.1743|0.0:0.8257:0.0:0.1743	.|.	706;706|.	P26006-1;P26006|.	.;ITA3_HUMAN|.	K|A	706;692;706|85	ENSP00000007722:N706K;ENSP00000315190:N706K|.	ENSP00000007722:N706K|.	N|P	+|+	3|1	2|0	ITGA3|ITGA3	45509789|45509789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	1.354000|1.354000	0.34056|0.34056	1.488000|1.488000	0.48433|0.48433	-0.253000|-0.253000	0.11424|0.11424	AAC|CCC		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		4	303	0	0	0	1	0	4	303				
IQSEC3	440073	broad.mit.edu	37	12	250347	250347	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:250347C>T	ENST00000538872.1	+	5	2167	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.P683P|IQSEC3_ENST00000382841.2_Silent_p.P380P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	683	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGGACACCCCCATCGGTGTGG	0.602																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2047-2049)ccC>ccT		IQ motif and Sec7 domain 3							115.0	107.0	110.0					12																	250347		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:250347C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2049C>T	12.37:g.250347C>T			Somatic				RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.P683P|IQSEC3_ENST00000382841.2_Silent_p.P380P	p.P683P			WXS	Illumina GAIIx	Phase_I	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	5	2167	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		683			SEC7.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2049C>T	CCDS53728.1																																																																																				0.602	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		4	325	0	0	0	1	0	4	325				
ZNF678	339500	broad.mit.edu	37	1	227842419	227842419	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:227842419C>T	ENST00000343776.5	+	4	813	c.468C>T	c.(466-468)gaC>gaT	p.D156D	ZNF678_ENST00000397097.3_Silent_p.D211D|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	156					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.D156D(1)|p.D211D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAAATGTGACGAATGTGGCA	0.343																																						ENST00000343776.4																			2	Substitution - coding silent(2)	p.D156D(1)|p.D211D(1)	endometrium(2)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(466-468)gaC>gaT		zinc finger protein 678							62.0	73.0	69.0					1																	227842419		2201	4298	6499	SO:0001819	synonymous_variant	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842419C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.468C>T	1.37:g.227842419C>T			Somatic				ZNF678_ENST00000397097.3_Silent_p.D211D|ZNF678_ENST00000498759.1_Intron	p.D156D			WXS	Illumina GAIIx	Phase_I	F5GXA7	F5GXA7_HUMAN			4	813	+		Prostate(94;0.0885)	211					Q8IVQ9	Silent	SNP	ENST00000343776.5	37	c.468C>T																																																																																					0.343	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		3	94	0	0	0	1	0	3	94				
NUP214	8021	broad.mit.edu	37	9	134073762	134073762	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:134073762C>T	ENST00000359428.5	+	29	5025	c.4881C>T	c.(4879-4881)ggC>ggT	p.G1627G	NUP214_ENST00000451030.1_Silent_p.G1628G|NUP214_ENST00000483497.2_Silent_p.G453G|NUP214_ENST00000411637.2_Silent_p.G1617G			P35658	NU214_HUMAN	nucleoporin 214kDa	1627	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTGCTCCCGGCCCATCTGCAG	0.572			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4879-4881)ggC>ggT		nucleoporin 214kDa							131.0	113.0	119.0					9																	134073762		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073762C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4881C>T	9.37:g.134073762C>T			Somatic				NUP214_ENST00000451030.1_Silent_p.G1628G|NUP214_ENST00000411637.2_Silent_p.G1617G|NUP214_ENST00000483497.2_Silent_p.G453G	p.G1627G			WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	5025	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1627			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.4881C>T	CCDS6940.1																																																																																				0.572	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		6	250	0	0	0	1	0	6	250				
LPAR5	57121	broad.mit.edu	37	12	6729643	6729643	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6729643C>G	ENST00000329858.4	-	2	1528	c.772G>C	c.(772-774)Ggg>Cgg	p.G258R	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CGCAGCAGCCCGTAGACCGCC	0.692																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(772-774)Ggg>Cgg		lysophosphatidic acid receptor 5							11.0	9.0	9.0					12																	6729643		2142	4169	6311	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729643C>G	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.772G>C	12.37:g.6729643C>G	ENSP00000327875:p.Gly258Arg		Somatic				LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R	p.G258R	NM_020400.5	NP_065133.1	WXS	Illumina GAIIx	Phase_I	Q9H1C0	LPAR5_HUMAN			2	1528	-			258						Missense_Mutation	SNP	ENST00000329858.4	37	c.772G>C	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464638	0.63513	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.36699	1.24;1.24	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.59689	0.2212	M	0.75615	2.305	0.38781	D	0.954769	D	0.89917	1.0	D	0.81914	0.995	T	0.59632	-0.7418	10	0.25751	T	0.34	.	17.8964	0.88890	0.0:1.0:0.0:0.0	.	258	Q9H1C0	LPAR5_HUMAN	R	258	ENSP00000327875:G258R;ENSP00000393098:G258R	ENSP00000327875:G258R	G	-	1	0	LPAR5	6599904	0.950000	0.32346	1.000000	0.80357	0.675000	0.39556	1.926000	0.40084	2.466000	0.83321	0.491000	0.48974	GGG		0.692	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		6	16	0	0	0	1	0	6	16				
TP53I3	9540	broad.mit.edu	37	2	24307066	24307066	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:24307066A>G	ENST00000238721.4	-	1	985	c.131T>C	c.(130-132)tTa>tCa	p.L44S	TP53I3_ENST00000335934.4_Missense_Mutation_p.L44S|TP53I3_ENST00000313482.4_Missense_Mutation_p.L44S|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.L44S|TP53I3_ENST00000417886.1_5'UTR	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	44					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.L44S(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTGCATTAAGTCCGCCCG	0.667											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000238721.4																			1	Substitution - Missense(1)	p.L44S(1)	kidney(1)	endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12						c.(130-132)tTa>tCa		tumor protein p53 inducible protein 3							29.0	31.0	30.0					2																	24307066		2203	4300	6503	SO:0001583	missense	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24307066A>G	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.131T>C	2.37:g.24307066A>G	ENSP00000238721:p.Leu44Ser		Somatic	OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	770	TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000335934.4_Missense_Mutation_p.L44S|TP53I3_ENST00000407482.1_Missense_Mutation_p.L44S|TP53I3_ENST00000313482.4_Missense_Mutation_p.L44S|FAM228B_ENST00000461972.1_Intron	p.L44S	NM_004881.4	NP_004872.2	WXS	Illumina GAIIx	Phase_I	Q53FA7	QORX_HUMAN			1	985	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		44					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.131T>C	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378774	0.61735	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.3	4.14	0.48551	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.382752	0.23534	N	0.047156	T	0.25901	0.0631	M	0.76727	2.345	0.20196	N	0.99993	D;D	0.71674	0.998;0.997	D;D	0.72982	0.957;0.979	T	0.04203	-1.0969	10	0.87932	D	0	-15.8864	10.1286	0.42665	0.9198:0.0:0.0802:0.0	.	44;44	Q53FA7;Q53FA7-2	QORX_HUMAN;.	S	44;44;44;44;39	ENSP00000337834:L44S;ENSP00000238721:L44S;ENSP00000322298:L44S;ENSP00000384414:L44S;ENSP00000389620:L39S	ENSP00000238721:L44S	L	-	2	0	TP53I3	24160570	0.399000	0.25287	0.002000	0.10522	0.448000	0.32197	4.175000	0.58263	0.964000	0.38108	0.533000	0.62120	TTA		0.667	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		86	34	0	0	0	1	0	86	34				
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100479340T>G	ENST00000347433.4	+	4	470	c.312T>G	c.(310-312)ggT>ggG	p.G104G	SRRT_ENST00000388793.4_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000457580.2_Silent_p.G104G			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	104					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104G(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGGGGGGGTGGGGGCCCAA	0.607																																						ENST00000388793.4																			1	Substitution - coding silent(1)	p.G104G(1)	endometrium(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(310-312)ggT>ggG		serrate RNA effector molecule homolog (Arabidopsis)							29.0	31.0	30.0					7																	100479340		2199	4294	6493	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479340T>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.312T>G	7.37:g.100479340T>G			Somatic				SRRT_ENST00000347433.4_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000457580.2_Silent_p.G104G	p.G104G	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	WXS	Illumina GAIIx	Phase_I	Q9BXP5	SRRT_HUMAN			4	532	+			104					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.312T>G	CCDS34709.1																																																																																				0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		20	529	0	0	0	1	0	20	529				
SCUBE2	57758	broad.mit.edu	37	11	9043470	9043470	+	Silent	SNP	G	G	T	rs370986866		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:9043470G>T	ENST00000309263.3	-	21	2872	c.2800C>A	c.(2800-2802)Cga>Aga	p.R934R	SCUBE2_ENST00000520467.1_Silent_p.R906R|SCUBE2_ENST00000450649.2_Silent_p.R742R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Silent_p.R963R			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	934						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R934R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTGCCATCTCGAACTATGTCT	0.433																																						ENST00000457346.2																			1	Substitution - coding silent(1)	p.R934R(1)	kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2887-2889)Cga>Aga		signal peptide, CUB domain, EGF-like 2							213.0	161.0	179.0					11																	9043470		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9043470G>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2800C>A	11.37:g.9043470G>T			Somatic				SCUBE2_ENST00000450649.2_Silent_p.R742R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.R934R|SCUBE2_ENST00000520467.1_Silent_p.R906R	p.R963R			WXS	Illumina GAIIx	Phase_I	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	22	2961	-			934					Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.2887C>A																																																																																					0.433	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		9	304	1	0	3.03607e-14	1	3.35747e-14	9	304				
VWA5A	4013	broad.mit.edu	37	11	124007759	124007759	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124007759C>A	ENST00000456829.2	+	15	1914	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	VWA5A_ENST00000392748.1_Missense_Mutation_p.Q555K|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	555										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTCCTTGCTCCAGACCAAGGA	0.453																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1663-1665)Cag>Aag		von Willebrand factor A domain containing 5A							70.0	75.0	73.0					11																	124007759		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007759C>A	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1663C>A	11.37:g.124007759C>A	ENSP00000407726:p.Gln555Lys		Somatic				VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q555K	p.Q555K	NM_001130142.1	NP_001123614.1	WXS	Illumina GAIIx	Phase_I	O00534	VMA5A_HUMAN			15	1914	+			555					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1663C>A	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895800	0.52121	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04049	3.72;3.72	5.37	5.37	0.77165	.	0.191953	0.49305	D	0.000149	T	0.08223	0.0205	M	0.79123	2.44	0.80722	D	1	P	0.43542	0.81	B	0.43155	0.41	T	0.15122	-1.0448	10	0.07325	T	0.83	-23.0116	10.094	0.42464	0.0:0.9088:0.0:0.0912	.	555	O00534	VMA5A_HUMAN	K	555	ENSP00000407726:Q555K;ENSP00000376504:Q555K	ENSP00000376504:Q555K	Q	+	1	0	VWA5A	123512969	0.977000	0.34250	0.353000	0.25747	0.860000	0.49131	3.130000	0.50508	2.517000	0.84864	0.650000	0.86243	CAG		0.453	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		5	102	1	0	1.23904e-05	1	1.33734e-05	5	102				
TRPV4	59341	broad.mit.edu	37	12	110230554	110230554	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:110230554G>A	ENST00000418703.2	-	10	1821	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	TRPV4_ENST00000541794.1_Missense_Mutation_p.A529V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A529V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A576V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A516V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A516V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A542V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A469V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	576					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GACCATCACGGCCAGGTAGGC	0.572																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1726-1728)gCc>gTc		transient receptor potential cation channel, subfamily V, member 4							80.0	63.0	69.0					12																	110230554		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230554G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1727C>T	12.37:g.110230554G>A	ENSP00000406191:p.Ala576Val		Somatic				TRPV4_ENST00000346520.2_Missense_Mutation_p.A516V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A529V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A469V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A516V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A542V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A529V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A576V	p.A576V	NM_001177431.1	NP_001170902.1	WXS	Illumina GAIIx	Phase_I	Q9HBA0	TRPV4_HUMAN			10	1821	-			576					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1727C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154896	0.94686	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	5.84	5.84	0.93424	Ion transport (1);	0.049745	0.85682	D	0.000000	D	0.93350	0.7880	L	0.35854	1.095	0.80722	D	1	B;D;P;B;B	0.63046	0.314;0.992;0.456;0.17;0.338	B;D;B;B;B	0.65010	0.331;0.931;0.331;0.106;0.26	D	0.90987	0.4832	10	0.23302	T	0.38	-16.8734	19.1263	0.93386	0.0:0.0:1.0:0.0	.	516;576;469;529;542	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	V	576;576;529;516;469;516;529;542	ENSP00000406191:A576V;ENSP00000261740:A576V;ENSP00000376480:A529V;ENSP00000319003:A516V;ENSP00000443611:A469V;ENSP00000442738:A516V;ENSP00000442167:A529V;ENSP00000444336:A542V	ENSP00000261740:A576V	A	-	2	0	TRPV4	108714937	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	7.881000	0.87252	2.763000	0.94921	0.650000	0.86243	GCC		0.572	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		4	148	0	0	0	1	0	4	148				
TMPRSS11E	28983	broad.mit.edu	37	4	69344706	69344706	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:69344706C>T	ENST00000305363.4	+	9	1171	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	369	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CAGATGCATGCCAGGTAAACA	0.363																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(1105-1107)tgC>tgT		transmembrane protease, serine 11E							150.0	149.0	149.0					4																	69344706		2203	4300	6503	SO:0001819	synonymous_variant	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344706C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1107C>T	4.37:g.69344706C>T			Somatic					p.C369C	NM_014058.3	NP_054777.2	WXS	Illumina GAIIx	Phase_I	Q9UL52	TM11E_HUMAN			9	1171	+			369			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Silent	SNP	ENST00000305363.4	37	c.1107C>T	CCDS33993.1																																																																																				0.363	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		6	491	0	0	0	1	0	6	491				
NOTCH4	4855	broad.mit.edu	37	6	32165316	32165316	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32165316G>A	ENST00000375023.3	-	27	4950	c.4812C>T	c.(4810-4812)acC>acT	p.T1604T	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Silent_p.T13T	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1604					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCCCTTGGAAGGTCCCGGACT	0.587																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(4810-4812)acC>acT		notch 4							75.0	61.0	66.0					6																	32165316		2203	4300	6503	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32165316G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4812C>T	6.37:g.32165316G>A			Somatic				NOTCH4_ENST00000443903.2_Silent_p.T13T	p.T1604T	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			27	4950	-			1604					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.4812C>T	CCDS34420.1																																																																																				0.587	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	216	0	0	0	1	0	4	216				
ATXN2L	11273	broad.mit.edu	37	16	28847437	28847437	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28847437C>T	ENST00000336783.4	+	22	3246	c.3079C>T	c.(3079-3081)Ccc>Tcc	p.P1027S	ATXN2L_ENST00000340394.8_Missense_Mutation_p.P1027S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P1033S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P1027S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P1027S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P1027S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P1027S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1027					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CATCGGACACCCCCAAGGTGA	0.632																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3079-3081)Ccc>Tcc		ataxin 2-like							47.0	55.0	52.0					16																	28847437		2194	4300	6494	SO:0001583	missense	11273					membrane		g.chr16:28847437C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3079C>T	16.37:g.28847437C>T	ENSP00000338718:p.Pro1027Ser		Somatic				ATXN2L_ENST00000564304.1_Missense_Mutation_p.P1033S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P1027S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P1027S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P1027S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P1027S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P1027S	p.P1027S	NM_007245.3	NP_009176.2	WXS	Illumina GAIIx	Phase_I	Q8WWM7	ATX2L_HUMAN			22	3246	+			1027					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.3079C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	18.68	3.676628	0.67928	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.59772	0.78;0.24;0.27;0.34;0.33	5.95	5.95	0.96441	.	0.157011	0.42821	D	0.000658	T	0.47021	0.1423	N	0.14661	0.345	0.43403	D	0.995535	B;B;B;B;B;B	0.22146	0.039;0.039;0.065;0.065;0.039;0.065	B;B;B;B;B;B	0.27715	0.023;0.037;0.051;0.051;0.023;0.082	T	0.40059	-0.9583	10	0.54805	T	0.06	-6.9986	19.1462	0.93469	0.0:1.0:0.0:0.0	.	1027;1027;1027;1027;1027;1027	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	S	1027	ENSP00000341459:P1027S;ENSP00000378917:P1027S;ENSP00000338718:P1027S;ENSP00000372133:P1027S;ENSP00000315650:P1027S	ENSP00000315650:P1027S	P	+	1	0	ATXN2L	28754938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.429000	0.59901	2.817000	0.96982	0.563000	0.77884	CCC		0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		4	142	0	0	0	1	0	4	142				
CUBN	8029	broad.mit.edu	37	10	17110165	17110165	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:17110165A>G	ENST00000377833.4	-	21	2971	c.2906T>C	c.(2905-2907)cTg>cCg	p.L969P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	969	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.		L -> V (in dbSNP:rs11254354).		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.L969P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAATGAATCAGGTGATTAGG	0.413																																						ENST00000377833.4																			1	Substitution - Missense(1)	p.L969P(1)	kidney(1)	breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2905-2907)cTg>cCg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						156.0	148.0	151.0					10																	17110165		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17110165A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2906T>C	10.37:g.17110165A>G	ENSP00000367064:p.Leu969Pro		Somatic					p.L969P	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			21	2971	-			969		L -> V (in dbSNP:rs11254354).	CUB 5.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2906T>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.293000	0.40594	.	.	ENSG00000107611	ENST00000377833	T	0.17854	2.25	5.55	3.23	0.37069	CUB (5);	0.237883	0.21954	N	0.066688	T	0.35008	0.0917	L	0.53617	1.68	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.05767	-1.0865	10	0.52906	T	0.07	.	13.621	0.62136	0.7141:0.2859:0.0:0.0	.	969	O60494	CUBN_HUMAN	P	969	ENSP00000367064:L969P	ENSP00000367064:L969P	L	-	2	0	CUBN	17150171	1.000000	0.71417	0.104000	0.21259	0.309000	0.27889	2.996000	0.49449	0.905000	0.36596	0.533000	0.62120	CTG		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		121	247	0	0	0	1	0	121	247				
PLCL2	23228	broad.mit.edu	37	3	17131353	17131353	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:17131353C>T	ENST00000418129.2	+	6	3420	c.2955C>T	c.(2953-2955)cgC>cgT	p.R985R	PLCL2_ENST00000432376.1_Silent_p.R985R	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1111					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGAAGCCACGCCGGAGCTTGG	0.418																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2953-2955)cgC>cgT		phospholipase C-like 2							77.0	76.0	76.0					3																	17131353		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17131353C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2955C>T	3.37:g.17131353C>T			Somatic				PLCL2_ENST00000432376.1_Silent_p.R985R	p.R985R	NM_001144382.1	NP_001137854.1	WXS	Illumina GAIIx	Phase_I	Q9UPR0	PLCL2_HUMAN			6	3420	+			1111					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.2955C>T	CCDS33713.1																																																																																				0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			4	151	0	0	0	1	0	4	151				
CACNA1D	776	broad.mit.edu	37	3	53845394	53845394	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:53845394G>C	ENST00000350061.5	+	48	6958	c.6447G>C	c.(6445-6447)gaG>gaC	p.E2149D	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E2169D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2125D	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2149					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.E2169D(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGATGAGGAGGACCTGGCGG	0.622																																						ENST00000288139.3																			1	Substitution - Missense(1)	p.E2169D(1)	kidney(1)	breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(6505-6507)gaG>gaC		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						51.0	47.0	49.0					3																	53845394		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53845394G>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6447G>C	3.37:g.53845394G>C	ENSP00000288133:p.Glu2149Asp		Somatic				CACNA1D_ENST00000350061.5_Missense_Mutation_p.E2149D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2125D	p.E2169D	NM_000720.2	NP_000711.1	WXS	Illumina GAIIx	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	49	6625	+			2149					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.6507G>C	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942021	0.73557	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97161	-4.24;-4.27;-4.22;-4.26	5.74	4.87	0.63330	.	0.282238	0.30556	N	0.009379	D	0.97383	0.9144	M	0.61703	1.905	0.80722	D	1	P;P;D;P	0.71674	0.809;0.512;0.998;0.88	B;B;D;P	0.75484	0.279;0.194;0.986;0.47	D	0.96740	0.9546	10	0.49607	T	0.09	.	7.1734	0.25730	0.2816:0.0:0.7184:0.0	.	2125;1842;2149;2169	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	D	2149;2169;2125;1842	ENSP00000288133:E2149D;ENSP00000288139:E2169D;ENSP00000409174:E2125D;ENSP00000418014:E1842D	ENSP00000288139:E2169D	E	+	3	2	CACNA1D	53820434	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.837000	0.48191	1.585000	0.49928	0.655000	0.94253	GAG		0.622	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		9	58	0	0	0	1	0	9	58				
NAV2	89797	broad.mit.edu	37	11	20066823	20066823	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:20066823A>T	ENST00000396087.3	+	15	3677	c.3578A>T	c.(3577-3579)gAt>gTt	p.D1193V	NAV2_ENST00000349880.4_Missense_Mutation_p.D1170V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.D1124V|NAV2_ENST00000311043.8_Missense_Mutation_p.D256V|NAV2_ENST00000396085.1_Missense_Mutation_p.D1170V|NAV2_ENST00000527559.2_Missense_Mutation_p.D1122V|NAV2_ENST00000533917.1_Missense_Mutation_p.D256V|NAV2_ENST00000360655.4_Missense_Mutation_p.D1106V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1193					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCAAGTATGGATGGGGCTCAG	0.572																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(3508-3510)gAt>gTt		neuron navigator 2							84.0	80.0	81.0					11																	20066823		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20066823A>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3578A>T	11.37:g.20066823A>T	ENSP00000379396:p.Asp1193Val		Somatic				NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.D1170V|NAV2_ENST00000527559.2_Missense_Mutation_p.D1122V|NAV2_ENST00000311043.8_Missense_Mutation_p.D256V|NAV2_ENST00000360655.4_Missense_Mutation_p.D1106V|NAV2_ENST00000540292.1_Missense_Mutation_p.D1124V|NAV2_ENST00000533917.1_Missense_Mutation_p.D256V|NAV2_ENST00000396087.3_Missense_Mutation_p.D1193V	p.D1170V	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			14	3870	+			1193					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3509A>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.460096	0.63401	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000002	T	0.60366	0.2263	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.999	T	0.60495	-0.7252	9	.	.	.	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	1193;256;256;1170;1106	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	V	1106;1170;1170;1193;1122;1124;256;256;256;256	ENSP00000353871:D1106V;ENSP00000379394:D1170V;ENSP00000309577:D1170V;ENSP00000379396:D1193V;ENSP00000435395:D1122V;ENSP00000443489:D1124V;ENSP00000437316:D256V;ENSP00000437136:D256V;ENSP00000312169:D256V	.	D	+	2	0	NAV2	20023399	1.000000	0.71417	0.968000	0.41197	0.388000	0.30384	7.275000	0.78548	2.257000	0.74773	0.528000	0.53228	GAT		0.572	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		6	364	0	0	0	1	0	6	364				
ADTRP	84830	broad.mit.edu	37	6	11768573	11768573	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:11768573A>G	ENST00000414691.3	-	2	607	c.197T>C	c.(196-198)gTg>gCg	p.V66A	ADTRP_ENST00000229583.5_Missense_Mutation_p.V84A|ADTRP_ENST00000379413.2_Missense_Mutation_p.V66A	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCTTTTCAGCACATCATCCAG	0.418																																						ENST00000414691.3																			0											c.(196-198)gTg>gCg		androgen-dependent TFPI-regulating protein							203.0	183.0	190.0					6																	11768573		2203	4300	6503	SO:0001583	missense	84830					integral to membrane		g.chr6:11768573A>G	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.197T>C	6.37:g.11768573A>G	ENSP00000404416:p.Val66Ala		Somatic				ADTRP_ENST00000229583.5_Missense_Mutation_p.V84A|ADTRP_ENST00000379413.2_Missense_Mutation_p.V66A	p.V66A	NM_032744.3	NP_116133.1	WXS	Illumina GAIIx	Phase_I	Q96IZ2	CF105_HUMAN			2	607	-			66					B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	c.197T>C	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648764	0.67358	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	6.08	6.08	0.98989	.	0.198679	0.43260	D	0.000582	T	0.34395	0.0896	M	0.70903	2.155	0.35347	D	0.786974	D;D	0.57571	0.98;0.957	P;P	0.52109	0.69;0.642	T	0.39078	-0.9631	10	0.32370	T	0.25	-7.0168	10.3349	0.43844	0.9269:0.0:0.0731:0.0	.	84;66	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	A	66;84;66;66;66	ENSP00000404416:V66A;ENSP00000229583:V84A;ENSP00000368723:V66A;ENSP00000368726:V66A;ENSP00000422927:V66A	ENSP00000229583:V84A	V	-	2	0	C6orf105	11876559	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.363000	0.59473	2.333000	0.79357	0.482000	0.46254	GTG		0.418	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		6	235	0	0	0	1	0	6	235				
OR4C12	283093	broad.mit.edu	37	11	50003718	50003718	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:50003718G>A	ENST00000335238.4	-	1	353	c.320C>T	c.(319-321)gCt>gTt	p.A107V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GATCTCAGTAGCACCAAAAAT	0.448																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(319-321)gCt>gTt		olfactory receptor, family 4, subfamily C, member 12							145.0	143.0	144.0					11																	50003718		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003718G>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.320C>T	11.37:g.50003718G>A	ENSP00000334418:p.Ala107Val		Somatic					p.A107V	NM_001005270.2	NP_001005270.1	WXS	Illumina GAIIx	Phase_I	Q96R67	OR4CC_HUMAN			1	353	-			107					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.320C>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.538436	0.45176	.	.	ENSG00000221954	ENST00000335238	T	0.03124	4.04	3.31	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.186008	0.25900	U	0.027566	T	0.04770	0.0129	N	0.17312	0.475	0.09310	N	1	P	0.48694	0.914	P	0.52823	0.71	T	0.34576	-0.9823	10	0.49607	T	0.09	.	10.7062	0.45956	0.0:0.3728:0.6272:0.0	.	107	Q96R67	OR4CC_HUMAN	V	107	ENSP00000334418:A107V	ENSP00000334418:A107V	A	-	2	0	OR4C12	49960294	0.000000	0.05858	0.321000	0.25320	0.862000	0.49288	-0.182000	0.09726	0.171000	0.19730	0.398000	0.26397	GCT		0.448	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		10	582	0	0	0	1	0	10	582				
KRT17	3872	broad.mit.edu	37	17	39780508	39780508	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:39780508T>C	ENST00000311208.8	-	1	321	c.254A>G	c.(253-255)aAg>aGg	p.K85R	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	85	Coil 1A.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CATGGTGGCCTTCTCACCTCC	0.612																																					Pancreas(92;1242 2086 39193 50508)	ENST00000311208.8																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(253-255)aAg>aGg		keratin 17							77.0	80.0	79.0					17																	39780508		2203	4300	6503	SO:0001583	missense	3872				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780508T>C	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.254A>G	17.37:g.39780508T>C	ENSP00000308452:p.Lys85Arg		Somatic				JUP_ENST00000540235.1_Intron	p.K85R	NM_000422.2	NP_000413.1	WXS	Illumina GAIIx	Phase_I	Q04695	K1C17_HUMAN			1	321	-		Breast(137;0.000307)	85			Coil 1A.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.254A>G	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567427	0.86439	.	.	ENSG00000128422	ENST00000311208	D	0.92397	-3.03	5.22	5.22	0.72569	Filament (1);	0.000000	0.49305	D	0.000148	D	0.94335	0.8179	M	0.75085	2.285	0.80722	D	1	P	0.40000	0.698	P	0.50934	0.654	D	0.94789	0.7960	10	0.66056	D	0.02	.	15.5563	0.76196	0.0:0.0:0.0:1.0	.	85	Q04695	K1C17_HUMAN	R	85	ENSP00000308452:K85R	ENSP00000308452:K85R	K	-	2	0	KRT17	37034034	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.946000	0.70234	2.317000	0.78254	0.460000	0.39030	AAG		0.612	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		5	338	0	0	0	1	0	5	338				
ATP6V0D1	9114	broad.mit.edu	37	16	67514882	67514882	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67514882C>A	ENST00000290949.3	-	1	258	c.108G>T	c.(106-108)ctG>ctT	p.L36L	RP11-297D21.4_ENST00000602596.1_RNA|ATP6V0D1_ENST00000540149.1_Silent_p.L36L	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	36					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGCACTGCACCAGGTTGAGGT	0.647																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(106-108)ctG>ctT		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							49.0	51.0	51.0					16																	67514882		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67514882C>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.108G>T	16.37:g.67514882C>A			Somatic				ATP6V0D1_ENST00000540149.1_Silent_p.L36L	p.L36L	NM_004691.4	NP_004682.2	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	1	258	-		Ovarian(137;0.0563)	36					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.108G>T	CCDS10838.1																																																																																				0.647	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		5	103	1	0	0.014758	1	0.015362	5	103				
ZNF93	81931	broad.mit.edu	37	19	20044507	20044507	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:20044507A>G	ENST00000343769.5	+	4	771	c.743A>G	c.(742-744)gAg>gGg	p.E248G	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGTAAACATGAGATCATTCAT	0.363																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(742-744)gAg>gGg		zinc finger protein 93							60.0	57.0	58.0					19																	20044507		2203	4299	6502	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044507A>G	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.743A>G	19.37:g.20044507A>G	ENSP00000342002:p.Glu248Gly		Somatic				AC007204.2_ENST00000592245.1_lincRNA	p.E248G	NM_031218.3	NP_112495.2	WXS	Illumina GAIIx	Phase_I	P35789	ZNF93_HUMAN			4	771	+			248					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.743A>G	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	a	14.90	2.674325	0.47781	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.18657	2.2	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	N	0.25992	0.78	0.09310	N	0.999991	B	0.34399	0.452	B	0.37508	0.252	T	0.25082	-1.0142	9	0.87932	D	0	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	248	P35789	ZNF93_HUMAN	G	248	ENSP00000342002:E248G	ENSP00000342002:E248G	E	+	2	0	ZNF93	19905507	0.000000	0.05858	0.513000	0.27749	0.511000	0.34104	0.036000	0.13819	0.166000	0.19597	0.164000	0.16699	GAG		0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		3	85	0	0	0	1	0	3	85				
DNAH1	25981	broad.mit.edu	37	3	52387249	52387249	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:52387249T>C	ENST00000420323.2	+	19	3419	c.3158T>C	c.(3157-3159)cTg>cCg	p.L1053P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1053	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1053P(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGAGCAGCTGGAGAAGAAC	0.577																																						ENST00000420323.2																			2	Substitution - Missense(2)	p.L1053P(2)	kidney(2)	cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3157-3159)cTg>cCg		dynein, axonemal, heavy chain 1							50.0	56.0	54.0					3																	52387249		2147	4245	6392	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52387249T>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3158T>C	3.37:g.52387249T>C	ENSP00000401514:p.Leu1053Pro		Somatic					p.L1053P	NM_015512.4	NP_056327.4	WXS	Illumina GAIIx	Phase_I	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	19	3419	+			1053			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3158T>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969603	0.53614	.	.	ENSG00000114841	ENST00000420323	T	0.64991	-0.13	5.78	5.78	0.91487	.	0.000000	0.41396	D	0.000882	D	0.82949	0.5148	M	0.92026	3.265	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.68943	0.961;0.946	D	0.87037	0.2138	10	0.87932	D	0	.	16.1108	0.81261	0.0:0.0:0.0:1.0	.	1053;1053	C9JXH6;Q9P2D7-3	.;.	P	1053	ENSP00000401514:L1053P	ENSP00000401514:L1053P	L	+	2	0	DNAH1	52362289	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.359000	0.79477	2.213000	0.71641	0.528000	0.53228	CTG		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		46	62	0	0	0	1	0	46	62				
NXF1	10482	broad.mit.edu	37	11	62569086	62569086	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62569086T>A	ENST00000532297.1	-	8	1286	c.657A>T	c.(655-657)cgA>cgT	p.R219R	NXF1_ENST00000531709.2_Silent_p.R219R|NXF1_ENST00000531131.1_Silent_p.R82R|NXF1_ENST00000439713.2_Silent_p.R219R|NXF1_ENST00000294172.2_Silent_p.R219R			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	219					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCATCGTATCGTTTGCTCA	0.507																																						ENST00000531709.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(655-657)cgA>cgT		nuclear RNA export factor 1							174.0	174.0	174.0					11																	62569086		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569086T>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.657A>T	11.37:g.62569086T>A			Somatic				NXF1_ENST00000294172.2_Silent_p.R219R|NXF1_ENST00000532297.1_Silent_p.R219R|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_Silent_p.R219R	p.R219R	NM_001081491.1	NP_001074960.1	WXS	Illumina GAIIx	Phase_I	Q9UBU9	NXF1_HUMAN			7	770	-			219			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.657A>T	CCDS8037.1																																																																																				0.507	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		9	1315	0	0	0	1	0	9	1315				
FBXL7	23194	broad.mit.edu	37	5	15936658	15936658	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:15936658C>T	ENST00000504595.1	+	4	1320	c.839C>T	c.(838-840)aCg>aTg	p.T280M	FBXL7_ENST00000329673.7_Missense_Mutation_p.T268M|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.T233M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	280					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGGACATGACGGACTGCTTC	0.612																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(838-840)aCg>aTg		F-box and leucine-rich repeat protein 7							71.0	72.0	72.0					5																	15936658		2183	4287	6470	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936658C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.839C>T	5.37:g.15936658C>T	ENSP00000423630:p.Thr280Met		Somatic				FBXL7_ENST00000510662.1_Missense_Mutation_p.T233M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T268M	p.T280M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	WXS	Illumina GAIIx	Phase_I	Q9UJT9	FBXL7_HUMAN			4	1320	+			280					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.839C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190915	0.78789	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02421	4.3;4.3;4.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.56343	0.796	T	0.29181	-1.0020	10	0.59425	D	0.04	.	15.0679	0.72011	0.0:0.8577:0.1423:0.0	.	280	Q9UJT9	FBXL7_HUMAN	M	280;233;268	ENSP00000423630:T280M;ENSP00000425184:T233M;ENSP00000329632:T268M	ENSP00000329632:T268M	T	+	2	0	FBXL7	15989658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.868000	0.63021	2.414000	0.81942	0.655000	0.94253	ACG		0.612	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	400	0	0	0	1	0	5	400				
PARL	55486	broad.mit.edu	37	3	183547481	183547481	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183547481C>T	ENST00000317096.4	-	10	1105	c.1045G>A	c.(1045-1047)Ggt>Agt	p.G349S	PARL_ENST00000435888.1_Missense_Mutation_p.G265S|PARL_ENST00000311101.5_Missense_Mutation_p.G299S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	349					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGTTCATGACCGTAAGTAACA	0.428																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1045-1047)Ggt>Agt		presenilin associated, rhomboid-like							128.0	131.0	130.0					3																	183547481		2203	4300	6503	SO:0001583	missense	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183547481C>T	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1045G>A	3.37:g.183547481C>T	ENSP00000325421:p.Gly349Ser		Somatic				PARL_ENST00000311101.5_Missense_Mutation_p.G299S|PARL_ENST00000435888.1_Missense_Mutation_p.G265S	p.G349S	NM_018622.5	NP_061092.3	WXS	Illumina GAIIx	Phase_I	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1105	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		349					Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	c.1045G>A	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.418060|5.418060	0.96092|0.96092	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888|ENST00000450375;ENST00000417784	T;T;T|T	0.11063|0.49720	2.81;2.81;2.81|0.77	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72153|0.72153	0.3425|0.3425	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	P;P|.	0.62382|.	0.901;0.893|.	T|T	0.74532|0.74532	-0.3634|-0.3634	10|6	0.62326|.	D|.	0.03|.	-19.7944|-19.7944	19.4657|19.4657	0.94939|0.94939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	299;349|.	Q9H300-2;Q9H300|.	.;PARL_HUMAN|.	S|Q	349;299;265|62;140	ENSP00000325421:G349S;ENSP00000310676:G299S;ENSP00000402137:G265S|ENSP00000402689:R62Q	ENSP00000310676:G299S|.	G|R	-|-	1|2	0|0	PARL|PARL	185030175|185030175	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.971000|0.971000	0.66376|0.66376	7.526000|7.526000	0.81920|0.81920	2.691000|2.691000	0.91804|0.91804	0.563000|0.563000	0.77884|0.77884	GGT|CGG		0.428	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		4	344	0	0	0	1	0	4	344				
ZNF804A	91752	broad.mit.edu	37	2	185801529	185801529	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:185801529T>A	ENST00000302277.6	+	4	2000	c.1406T>A	c.(1405-1407)gTa>gAa	p.V469E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	469							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCTACTAAAGTAAATAATAAT	0.353																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1405-1407)gTa>gAa		zinc finger protein 804A							59.0	63.0	61.0					2																	185801529		2203	4297	6500	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801529T>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1406T>A	2.37:g.185801529T>A	ENSP00000303252:p.Val469Glu		Somatic					p.V469E	NM_194250.1	NP_919226.1	WXS	Illumina GAIIx	Phase_I	Q7Z570	Z804A_HUMAN			4	2000	+			469					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1406T>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	8.795	0.931621	0.18131	.	.	ENSG00000170396	ENST00000302277	T	0.05649	3.41	5.69	2.0	0.26442	.	1.090690	0.07113	N	0.842458	T	0.05273	0.0140	N	0.22421	0.69	0.19300	N	0.999977	B	0.23937	0.094	B	0.18871	0.023	T	0.41752	-0.9491	10	0.56958	D	0.05	0.1759	6.2321	0.20740	0.0:0.5125:0.0:0.4875	.	469	Q7Z570	Z804A_HUMAN	E	469	ENSP00000303252:V469E	ENSP00000303252:V469E	V	+	2	0	ZNF804A	185509774	0.106000	0.21978	0.631000	0.29282	0.957000	0.61999	0.560000	0.23500	0.434000	0.26340	0.533000	0.62120	GTA		0.353	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		4	41	0	0	0	1	0	4	41				
SLC19A3	80704	broad.mit.edu	37	2	228552284	228552284	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:228552284T>A	ENST00000258403.3	-	6	1391	c.1320A>T	c.(1318-1320)ttA>ttT	p.L440F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.L436F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	440					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TCCCATAAACTAAAAACTGGA	0.353																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(1318-1320)ttA>ttT		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						66.0	67.0	66.0					2																	228552284		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228552284T>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1320A>T	2.37:g.228552284T>A	ENSP00000258403:p.Leu440Phe		Somatic				SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.L436F	p.L440F	NM_025243.3	NP_079519.1	WXS	Illumina GAIIx	Phase_I	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	6	1391	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	440						Missense_Mutation	SNP	ENST00000258403.3	37	c.1320A>T	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.438828	0.62955	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.76968	-1.06;-1.06	5.65	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);	0.221299	0.34879	N	0.003619	T	0.80879	0.4708	L	0.55990	1.75	0.49389	D	0.99978	D;P	0.76494	0.999;0.736	D;P	0.74023	0.982;0.501	T	0.77582	-0.2534	10	0.24483	T	0.36	-9.398	5.6886	0.17817	0.0:0.1951:0.1375:0.6674	.	436;440	F5H2M8;Q9BZV2	.;S19A3_HUMAN	F	440;436	ENSP00000258403:L440F;ENSP00000445519:L436F	ENSP00000258403:L440F	L	-	3	2	SLC19A3	228260528	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	-0.036000	0.12185	2.163000	0.67991	0.459000	0.35465	TTA		0.353	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			3	30	0	0	0	1	0	3	30				
UHRF2	115426	broad.mit.edu	37	9	6420910	6420910	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:6420910A>T	ENST00000276893.5	+	2	321		c.e2-1		RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Splice_Site	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase						cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTTATTTTCTAGTTGGAAAAT	0.343																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.e2-1		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							57.0	58.0	58.0					9																	6420910		2203	4300	6503	SO:0001630	splice_region_variant	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6420910A>T	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.154-1A>T	9.37:g.6420910A>T			Somatic				RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Splice_Site		NM_152896.2	NP_690856.1	WXS	Illumina GAIIx	Phase_I	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	2	321	+		Acute lymphoblastic leukemia(23;0.158)						Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Splice_Site	SNP	ENST00000276893.5	37		CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173384	0.57584	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3441	0.74320	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UHRF2	6410910	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	7.995000	0.88328	2.022000	0.59522	0.383000	0.25322	.		0.343	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	Intron	4	97	0	0	0	1	0	4	97				
CLCN1	1180	broad.mit.edu	37	7	143048986	143048986	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:143048986G>T	ENST00000343257.2	+	23	2982	c.2895G>T	c.(2893-2895)gaG>gaT	p.E965D		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	965					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGGAAGAGGAGCTGGCCGACA	0.622																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2893-2895)gaG>gaT		chloride channel, voltage-sensitive 1							68.0	70.0	70.0					7																	143048986		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143048986G>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2895G>T	7.37:g.143048986G>T	ENSP00000339867:p.Glu965Asp		Somatic					p.E965D	NM_000083.2	NP_000074.2	WXS	Illumina GAIIx	Phase_I	P35523	CLCN1_HUMAN			23	2982	+	Melanoma(164;0.205)		965					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2895G>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	8.725	0.915300	0.17907	.	.	ENSG00000188037	ENST00000343257	D	0.84800	-1.9	4.49	0.282	0.15692	.	0.609174	0.15874	N	0.240399	T	0.72301	0.3443	L	0.39898	1.24	0.26097	N	0.980874	B;B	0.14012	0.009;0.001	B;B	0.12156	0.007;0.001	T	0.54476	-0.8288	10	0.25106	T	0.35	.	2.1361	0.03762	0.188:0.3625:0.3168:0.1327	.	164;965	Q75L28;P35523	.;CLCN1_HUMAN	D	965	ENSP00000339867:E965D	ENSP00000339867:E965D	E	+	3	2	CLCN1	142759108	0.989000	0.36119	0.999000	0.59377	0.813000	0.45954	0.251000	0.18257	0.425000	0.26087	-0.254000	0.11334	GAG		0.622	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		8	1028	1	0	6.5536e-12	1	7.2065e-12	8	1028				
ASAH1	427	broad.mit.edu	37	8	17920737	17920737	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:17920737G>A	ENST00000262097.6	-	7	771	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	ASAH1_ENST00000417108.2_Missense_Mutation_p.H64Y|ASAH1_ENST00000381733.4_Missense_Mutation_p.H170Y|ASAH1_ENST00000314146.10_Missense_Mutation_p.H148Y|ASAH1_ENST00000520781.1_Missense_Mutation_p.H129Y	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	154					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTATTAGATGACCTATTTGA	0.353																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(460-462)Cat>Tat		N-acylsphingosine amidohydrolase (acid ceramidase) 1							280.0	287.0	285.0					8																	17920737		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17920737G>A	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.460C>T	8.37:g.17920737G>A	ENSP00000262097:p.His154Tyr		Somatic				ASAH1_ENST00000520781.1_Missense_Mutation_p.H129Y|ASAH1_ENST00000314146.10_Missense_Mutation_p.H148Y|ASAH1_ENST00000381733.4_Missense_Mutation_p.H170Y|ASAH1_ENST00000417108.2_Missense_Mutation_p.H64Y	p.H154Y	NM_177924.3	NP_808592.2	WXS	Illumina GAIIx	Phase_I	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	7	771	-			154					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.460C>T	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034998	0.35893	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.79352	-1.26;-1.26;0.8;0.8;-1.26	4.9	4.01	0.46588	.	0.129197	0.64402	D	0.000002	D	0.84419	0.5468	M	0.82517	2.595	0.32876	D	0.50983	D;D;D;D	0.61697	0.99;0.987;0.99;0.99	D;P;D;D	0.63597	0.916;0.863;0.916;0.916	D	0.86152	0.1588	10	0.54805	T	0.06	-8.0002	4.4498	0.11614	0.0853:0.1563:0.5968:0.1616	.	148;170;129;154	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	Y	154;170;129;64;148	ENSP00000262097:H154Y;ENSP00000371152:H170Y;ENSP00000427751:H129Y;ENSP00000394125:H64Y;ENSP00000326970:H148Y	ENSP00000262097:H154Y	H	-	1	0	ASAH1	17965017	1.000000	0.71417	0.904000	0.35570	0.169000	0.22640	3.507000	0.53371	1.355000	0.45865	0.563000	0.77884	CAT		0.353	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		6	712	0	0	0	1	0	6	712				
PKN3	29941	broad.mit.edu	37	9	131477488	131477488	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131477488G>A	ENST00000291906.4	+	14	2083	c.1690G>A	c.(1690-1692)Gtg>Atg	p.V564M	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	564	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTGCTTAGCTGTGCTGGGCCG	0.612																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1690-1692)Gtg>Atg		protein kinase N3							57.0	60.0	59.0					9																	131477488		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131477488G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1690G>A	9.37:g.131477488G>A	ENSP00000291906:p.Val564Met		Somatic				PKN3_ENST00000485301.1_3'UTR	p.V564M	NM_013355.3	NP_037487.2	WXS	Illumina GAIIx	Phase_I	Q6P5Z2	PKN3_HUMAN			14	2083	+			564			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1690G>A	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428128	0.62844	.	.	ENSG00000160447	ENST00000291906	T	0.26660	1.72	5.33	5.33	0.75918	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	0.43787	0.1263	M	0.63428	1.95	0.80722	D	1	D	0.61697	0.99	P	0.58780	0.845	T	0.35919	-0.9769	9	0.72032	D	0.01	.	14.5176	0.67830	0.0:0.0:1.0:0.0	.	564	Q6P5Z2	PKN3_HUMAN	M	564	ENSP00000291906:V564M	ENSP00000291906:V564M	V	+	1	0	PKN3	130517309	1.000000	0.71417	0.986000	0.45419	0.753000	0.42808	3.049000	0.49869	2.499000	0.84300	0.557000	0.71058	GTG		0.612	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		8	396	0	0	0	1	0	8	396				
VPS41	27072	broad.mit.edu	37	7	38791915	38791915	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:38791915T>A	ENST00000310301.4	-	22	1843		c.e22-2		VPS41_ENST00000395969.2_Splice_Site	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)						Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATGCAAATACTAAAAGGAACA	0.388																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.e22-2		vacuolar protein sorting 41 homolog (S. cerevisiae)							100.0	97.0	98.0					7																	38791915		2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38791915T>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1789-2A>T	7.37:g.38791915T>A			Somatic				VPS41_ENST00000395969.2_Splice_Site		NM_014396.3	NP_055211.2	WXS	Illumina GAIIx	Phase_I	P49754	VPS41_HUMAN			22	1843	-								E9PF36|Q86TP8|Q99851|Q99852	Splice_Site	SNP	ENST00000310301.4	37		CCDS5457.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568436	0.86439	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7202	0.77705	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS41	38758440	1.000000	0.71417	0.935000	0.37517	0.897000	0.52465	7.975000	0.88055	2.119000	0.64992	0.477000	0.44152	.		0.388	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Intron	6	185	0	0	0	1	0	6	185				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg		Somatic				CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000476474.1_RNA	p.S228R			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	705	0	0	0	1	0	6	705				
ZBTB5	9925	broad.mit.edu	37	9	37442314	37442314	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37442314C>T	ENST00000307750.4	-	2	423	c.235G>A	c.(235-237)Gca>Aca	p.A79T		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCAATCAGTGCAGCAAAGGCC	0.512																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(235-237)Gca>Aca		zinc finger and BTB domain containing 5							231.0	165.0	188.0					9																	37442314		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37442314C>T	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.235G>A	9.37:g.37442314C>T	ENSP00000307604:p.Ala79Thr		Somatic					p.A79T	NM_014872.2	NP_055687.1	WXS	Illumina GAIIx	Phase_I	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	423	-			79			BTB.			Missense_Mutation	SNP	ENST00000307750.4	37	c.235G>A	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039681	0.75732	.	.	ENSG00000168795	ENST00000307750	T	0.70164	-0.46	5.54	5.54	0.83059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71651	0.3365	N	0.21194	0.64	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.65874	-0.6062	10	0.21540	T	0.41	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	79	O15062	ZBTB5_HUMAN	T	79	ENSP00000307604:A79T	ENSP00000307604:A79T	A	-	1	0	ZBTB5	37432314	1.000000	0.71417	0.923000	0.36655	0.998000	0.95712	7.226000	0.78060	2.884000	0.98904	0.655000	0.94253	GCA		0.512	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		28	2978	0	0	0	1	0	28	2978				
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2						regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.e2-2		neuropilin (NRP) and tolloid (TLL)-like 2							173.0	166.0	168.0					16																	47165938		2202	4300	6502	SO:0001630	splice_region_variant	81831					integral to membrane	receptor activity	g.chr16:47165938T>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.35-2A>T	16.37:g.47165938T>A		HNSCC(25;0.065)	Somatic				NETO2_ENST00000303155.5_Splice_Site		NM_018092.4	NP_060562.3	WXS	Illumina GAIIx	Phase_I	Q8NC67	NETO2_HUMAN			2	419	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)						J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Splice_Site	SNP	ENST00000562435.1	37		CCDS10727.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270482	0.80469	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2987	0.73931	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NETO2	45723439	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	6.001000	0.70685	1.999000	0.58509	0.455000	0.32223	.		0.313	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	Intron	5	258	0	0	0	1	0	5	258				
AHNAK2	113146	broad.mit.edu	37	14	105412857	105412857	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:105412857C>T	ENST00000333244.5	-	7	9050	c.8931G>A	c.(8929-8931)aaG>aaA	p.K2977K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2977						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATTTTGAACTTGCTGTCTT	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8929-8931)aaG>aaA		AHNAK nucleoprotein 2							244.0	257.0	253.0					14																	105412857		1985	4138	6123	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412857C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8931G>A	14.37:g.105412857C>T			Somatic				AHNAK2_ENST00000557457.1_Intron	p.K2977K	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9050	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2977					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8931G>A	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	229	0	0	0	1	0	5	229				
EML4	27436	broad.mit.edu	37	2	42522564	42522564	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:42522564G>T	ENST00000318522.5	+	13	1659	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	EML4_ENST00000401738.3_Missense_Mutation_p.G477V|EML4_ENST00000402711.2_Missense_Mutation_p.G408V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	466					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCATTCTTGGGGAATGGAGAT	0.388			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1396-1398)gGg>gTg		echinoderm microtubule associated protein like 4							131.0	136.0	134.0					2																	42522564		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42522564G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1397G>T	2.37:g.42522564G>T	ENSP00000320663:p.Gly466Val		Somatic				EML4_ENST00000402711.2_Missense_Mutation_p.G408V|EML4_ENST00000401738.3_Missense_Mutation_p.G477V	p.G466V	NM_019063.3	NP_061936.2	WXS	Illumina GAIIx	Phase_I	Q9HC35	EMAL4_HUMAN			13	1659	+			466					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1397G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126241	0.37533	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57436	0.4;0.4;0.4	5.72	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.297677	0.42172	D	0.000752	T	0.37100	0.0991	N	0.14661	0.345	0.80722	D	1	B;B;B	0.34181	0.078;0.394;0.44	B;B;B	0.33750	0.045;0.118;0.169	T	0.32508	-0.9904	10	0.46703	T	0.11	-12.7292	15.0678	0.72011	0.0:0.2571:0.7429:0.0	.	408;477;466	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	V	466;408;477	ENSP00000320663:G466V;ENSP00000385059:G408V;ENSP00000384939:G477V	ENSP00000320663:G466V	G	+	2	0	EML4	42376068	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	2.850000	0.48294	2.865000	0.98341	0.655000	0.94253	GGG		0.388	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		5	138	1	0	0.00116845	1	0.00123383	5	138				
PDIA5	10954	broad.mit.edu	37	3	122843162	122843162	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:122843162G>T	ENST00000316218.7	+	10	840	c.745G>T	c.(745-747)Gct>Tct	p.A249S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	249	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGGTCCACAGCTGAGGACAT	0.572																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(745-747)Gct>Tct		protein disulfide isomerase family A, member 5							184.0	165.0	171.0					3																	122843162		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122843162G>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.745G>T	3.37:g.122843162G>T	ENSP00000323313:p.Ala249Ser		Somatic					p.A249S	NM_006810.3	NP_006801.1	WXS	Illumina GAIIx	Phase_I	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	10	840	+			249			Thioredoxin 1.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.745G>T	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.024469	0.35701	.	.	ENSG00000065485	ENST00000316218	T	0.73047	-0.71	5.27	4.41	0.53225	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.115678	0.64402	N	0.000015	T	0.68705	0.3030	L	0.43598	1.365	0.44168	D	0.996973	P	0.39737	0.685	P	0.46917	0.531	T	0.64356	-0.6427	10	0.21014	T	0.42	.	13.9753	0.64268	0.0:0.0:0.8483:0.1517	.	249	Q14554	PDIA5_HUMAN	S	249	ENSP00000323313:A249S	ENSP00000323313:A249S	A	+	1	0	PDIA5	124325852	1.000000	0.71417	0.090000	0.20809	0.106000	0.19336	4.538000	0.60650	1.467000	0.48044	-0.121000	0.15023	GCT		0.572	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		6	1012	1	0	0.115264	1	0.118923	6	1012				
ALCAM	214	broad.mit.edu	37	3	105253632	105253632	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:105253632T>C	ENST00000306107.5	+	6	1173	c.673T>C	c.(673-675)Tat>Cat	p.Y225H	ALCAM_ENST00000472644.2_Missense_Mutation_p.Y225H|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.Y174H|ALCAM_ENST00000389927.4_Missense_Mutation_p.Y34H	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	225	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGTGACATATTATGGACCATC	0.378																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(673-675)Tat>Cat		activated leukocyte cell adhesion molecule							125.0	118.0	121.0					3																	105253632		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105253632T>C	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.673T>C	3.37:g.105253632T>C	ENSP00000305988:p.Tyr225His		Somatic				ALCAM_ENST00000472644.2_Missense_Mutation_p.Y225H|ALCAM_ENST00000486979.2_Missense_Mutation_p.Y174H|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Missense_Mutation_p.Y34H	p.Y225H	NM_001627.3	NP_001618.2	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			6	1173	+			225			Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.673T>C	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.25|13.25	2.182104|2.182104	0.38511|0.38511	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000465413|ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	.|T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96	5.54|5.54	2.93|2.93	0.34026|0.34026	.|CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.446583	.|0.23243	.|N	.|0.050323	T|T	0.47967|0.47967	0.1474|0.1474	N|N	0.11106|0.11106	0.095|0.095	0.20638|0.20638	N|N	0.999871|0.999871	.|B;B;B	.|0.15141	.|0.001;0.012;0.012	.|B;B;B	.|0.14578	.|0.001;0.011;0.011	T|T	0.20505|0.20505	-1.0273|-1.0273	5|10	.|0.15952	.|T	.|0.53	-2.4153|-2.4153	4.4785|4.4785	0.11755|0.11755	0.1216:0.0684:0.1266:0.6833|0.1216:0.0684:0.1266:0.6833	.|.	.|34;225;225	.|Q6ZS95;B4DTU0;Q13740	.|.;.;CD166_HUMAN	S|H	72|225;225;174;34	.|ENSP00000305988:Y225H;ENSP00000419236:Y225H;ENSP00000418213:Y174H;ENSP00000374577:Y34H	.|ENSP00000305988:Y225H	L|Y	+|+	2|1	0|0	ALCAM|ALCAM	106736322|106736322	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	0.734000|0.734000	0.26101|0.26101	1.002000|1.002000	0.39104|0.39104	0.528000|0.528000	0.53228|0.53228	TTA|TAT		0.378	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		4	276	0	0	0	1	0	4	276				
PLXND1	23129	broad.mit.edu	37	3	129280738	129280738	+	Missense_Mutation	SNP	C	C	T	rs372292093		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:129280738C>T	ENST00000324093.4	-	28	5012	c.4834G>A	c.(4834-4836)Gcc>Acc	p.A1612T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1612T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1612					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTGCTGGAGGCGAACCACTCT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13626	0.0		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4834-4836)Gcc>Acc		plexin D1		C	THR/ALA	2,4404	2.1+/-5.4	0,2,2201	74.0	66.0	69.0		4834	5.1	0.7	3		69	0,8600		0,0,4300	no	missense	PLXND1	NM_015103.2	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	1612/1926	129280738	2,13004	2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129280738C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4834G>A	3.37:g.129280738C>T	ENSP00000317128:p.Ala1612Thr		Somatic				PLXND1_ENST00000324093.4_Missense_Mutation_p.A1612T	p.A1612T			WXS	Illumina GAIIx	Phase_I	Q9Y4D7	PLXD1_HUMAN			28	5012	-			1612					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4834G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640802	0.47153	4.54E-4	0.0	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11277	2.79;2.79	5.13	5.13	0.70059	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.067214	0.64402	D	0.000016	T	0.07458	0.0188	N	0.05383	-0.06	0.80722	D	1	P;D	0.62365	0.509;0.991	B;B	0.43508	0.039;0.422	T	0.48636	-0.9018	10	0.18710	T	0.47	.	18.5928	0.91220	0.0:1.0:0.0:0.0	.	207;1612	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1612	ENSP00000317128:A1612T;ENSP00000376931:A1612T	ENSP00000317128:A1612T	A	-	1	0	PLXND1	130763428	0.999000	0.42202	0.717000	0.30585	0.824000	0.46624	3.938000	0.56583	2.385000	0.81259	0.561000	0.74099	GCC		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		8	189	0	0	0	1	0	8	189				
MUC16	94025	broad.mit.edu	37	19	8993009	8993009	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:8993009C>A	ENST00000397910.4	-	67	41953	c.41750G>T	c.(41749-41751)aGc>aTc	p.S13917I	MUC16_ENST00000380951.5_Missense_Mutation_p.S558I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13942				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACTCACTGCTGGTGGTGGG	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41749-41751)aGc>aTc		mucin 16, cell surface associated							126.0	117.0	120.0					19																	8993009		1921	4133	6054	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993009C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41750G>T	19.37:g.8993009C>A	ENSP00000381008:p.Ser13917Ile		Somatic				MUC16_ENST00000380951.5_Missense_Mutation_p.S558I	p.S13917I	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			67	41953	-			13920	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41750G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.81|13.81	2.349224|2.349224	0.41599|0.41599	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.37584	.|1.19;1.19	2.64|2.64	-3.93|-3.93	0.04143|0.04143	.|.	.|.	.|.	.|.	.|.	T|T	0.50171|0.50171	0.1600|0.1600	M|M	0.80746|0.80746	2.51|2.51	.|.	.|.	.|.	.|P;D	.|0.53312	.|0.649;0.959	.|B;D	.|0.73380	.|0.052;0.98	T|T	0.52313|0.52313	-0.8592|-0.8592	4|8	.|0.52906	.|T	.|0.07	.|.	1.6165|1.6165	0.02705|0.02705	0.1974:0.269:0.3905:0.1431|0.1974:0.269:0.3905:0.1431	.|.	.|21562;13917	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	757|13917;558	.|ENSP00000381008:S13917I;ENSP00000370338:S558I	.|ENSP00000370338:S558I	A|S	-|-	1|2	0|0	MUC16|MUC16	8854009|8854009	0.011000|0.011000	0.17503|0.17503	0.060000|0.060000	0.19600|0.19600	0.147000|0.147000	0.21601|0.21601	-1.192000|-1.192000	0.03052|0.03052	-0.380000|-0.380000	0.07894|0.07894	0.400000|0.400000	0.26472|0.26472	GCA|AGC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	465	1	0	0.00010058	1	0.00010698	7	465				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro		Somatic				MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	WXS	Illumina GAIIx	Phase_I	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		6	406	0	0	0	1	0	6	406				
HAVCR2	84868	broad.mit.edu	37	5	156533904	156533904	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:156533904G>A	ENST00000307851.4	-	2	858	c.128C>T	c.(127-129)gCc>gTc	p.A43V	HAVCR2_ENST00000522593.1_Missense_Mutation_p.A43V|HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	43	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCTGGGGCGGCTGGGGTGTA	0.567																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(127-129)gCc>gTc		hepatitis A virus cellular receptor 2							97.0	96.0	96.0					5																	156533904		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156533904G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.128C>T	5.37:g.156533904G>A	ENSP00000312002:p.Ala43Val		Somatic				HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.A43V	p.A43V	NM_032782.4	NP_116171.3	WXS	Illumina GAIIx	Phase_I	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	858	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	43			Ig-like V-type.		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.128C>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486962	0.26686	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.66099	-0.19;-0.19	5.33	-1.13	0.09775	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.197440	0.01465	N	0.016040	T	0.51753	0.1693	L	0.46157	1.445	0.09310	N	1	B;B	0.33583	0.418;0.036	B;B	0.33960	0.173;0.042	T	0.22208	-1.0223	10	0.33141	T	0.24	0.806	2.3732	0.04336	0.1425:0.3328:0.2992:0.2256	.	43;43	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	V	43	ENSP00000312002:A43V;ENSP00000430873:A43V	ENSP00000312002:A43V	A	-	2	0	HAVCR2	156466482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.008000	0.13197	-0.185000	0.10550	-2.225000	0.00294	GCC		0.567	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			9	794	0	0	0	1	0	9	794				
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Intron	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:1500119_1500120insG	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Frame_Shift_Ins_p.P86fs	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(256-258)ctgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)																																				SO:0001627	intron_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500119_1500120insG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+32->C	1.37:g.1500125_1500125dupG			Somatic				SSU72_ENST00000291386.3_Intron	p.L86fs			WXS	Illumina GAIIx	Phase_I	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	283_284	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					Q9BZS6|Q9H933	Frame_Shift_Ins	INS	ENST00000291386.3	37	c.257_258insC	CCDS32.1																																																																																				0.505	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		11	1130						11	1130	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12024284	12024285	+	Frame_Shift_Ins	INS	-	-	G	rs373446893		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:12024284_12024285insG	ENST00000196061.4	+	12	1282_1283	c.1255_1256insG	c.(1255-1257)tggfs	p.W419fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.W466fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	419					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.A421fs*45(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GTCGAACTTCTGGGGGGCTCTC	0.629																																						ENST00000196061.4																			1	Insertion - Frameshift(1)	p.A421fs*45(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1255-1257)gggfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024284_12024285insG	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1261dupG	1.37:g.12024290_12024290dupG	ENSP00000196061:p.Trp419fs		Somatic				PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.G466fs	p.G419fs	NM_000302.3	NP_000293.2	WXS	Illumina GAIIx	Phase_I	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1282_1283	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	419					B4DR87|Q96AV9|Q9H132	Frame_Shift_Ins	INS	ENST00000196061.4	37	c.1255_1256insG	CCDS142.1																																																																																				0.629	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		7	485						7	485	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs		Somatic				VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		15	493						15	493	---	---	---	---
PRAMEF11	440560	broad.mit.edu	37	1	12885010	12885011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:12885010_12885011insT	ENST00000535591.1	-	4	1295_1296	c.1100_1101insA	c.(1099-1101)aacfs	p.N367fs	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	367					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGGCATAAGTTTTTGAGTAT	0.51																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1099-1101)attfs		PRAME family member 11																																				SO:0001589	frameshift_variant	440560							g.chr1:12885010_12885011insT	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1101dupA	1.37:g.12885015_12885015dupT	ENSP00000439551:p.Asn367fs		Somatic					p.I367fs	NM_001146344.1	NP_001139816.1	WXS	Illumina GAIIx	Phase_I	O60813	PRA11_HUMAN			4	1295_1296	-			367						Frame_Shift_Ins	INS	ENST00000535591.1	37	c.1100_1101insA	CCDS53268.1																																																																																				0.510	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		8	1115						8	1115	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6745-6747)cccfs	p.P2249fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2249	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6742-6747)caccccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259479_16259480insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6750dupC	1.37:g.16259485_16259485dupC	ENSP00000364912:p.Pro2249fs		Somatic					p.HP2248fs	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6948_6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2248			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6744_6745insC	CCDS164.1																																																																																				0.554	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		18	662						18	662	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16907916	16907917	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:16907916_16907917insG	ENST00000430580.2	-	15	2264_2265	c.1377_1378insC	c.(1375-1380)cccagg>cccCagg	p.R460fs	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	460	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGATG	0.436																																						ENST00000430580.2																			0											c.e15+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16907916_16907917insG	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1379+1->C	1.37:g.16907921_16907921dupG			Somatic					p.PG459_splice	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	15	2264_2265	-			459			NBPF 2.		Q8N4E8|Q9C0H0	Splice_Site	INS	ENST00000430580.2	37	c.1379_splice																																																																																					0.436	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Frame_Shift_Ins	7	1952						7	1952	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17914102	17914103	+	Frame_Shift_Ins	INS	-	-	C	rs201247982		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:17914102_17914103insC	ENST00000361221.3	+	3	344_345	c.185_186insC	c.(184-189)gaccccfs	p.DP62fs	ARHGEF10L_ENST00000434513.1_Frame_Shift_Ins_p.DP62fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Ins_p.DP62fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Ins_p.DP62fs|ARHGEF10L_ENST00000375420.3_5'Flank	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	62						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGGACACAGACCCCCCACTGA	0.589																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(184-186)gccfs		Rho guanine nucleotide exchange factor (GEF) 10-like																																				SO:0001589	frameshift_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17914102_17914103insC	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.191dupC	1.37:g.17914108_17914108dupC	ENSP00000355060:p.Asp62fs		Somatic				ARHGEF10L_ENST00000434513.1_Frame_Shift_Ins_p.A62fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Ins_p.A62fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Ins_p.A62fs	p.A62fs	NM_018125.3	NP_060595.3	WXS	Illumina GAIIx	Phase_I	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	3	344_345	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	62					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Ins	INS	ENST00000361221.3	37	c.185_186insC	CCDS182.1																																																																																				0.589	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		12	1934						12	1934	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs		Somatic				LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs	p.H937fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		8	775						8	775	---	---	---	---
HTR1D	3352	broad.mit.edu	37	1	23520194	23520195	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:23520194_23520195insG	ENST00000374619.1	-	1	1027_1028	c.518_519insC	c.(517-519)ccgfs	p.P173fs	HTR1D_ENST00000314113.3_Frame_Shift_Ins_p.P173fs	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	173					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P173P(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGAAGAGCGGGGGGATGGA	0.594																																						ENST00000374619.1																			1	Substitution - coding silent(1)	p.P173P(1)	NS(1)	NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(517-519)cctfs		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)																																			SO:0001589	frameshift_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520194_23520195insG	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.519dupC	1.37:g.23520200_23520200dupG	ENSP00000363748:p.Pro173fs		Somatic				HTR1D_ENST00000314113.3_Frame_Shift_Ins_p.P173fs	p.P173fs	NM_000864.4	NP_000855.1	WXS	Illumina GAIIx	Phase_I	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1027_1028	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	173						Frame_Shift_Ins	INS	ENST00000374619.1	37	c.518_519insC	CCDS231.1																																																																																				0.594	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		7	736						7	736	---	---	---	---
STPG1	90529	broad.mit.edu	37	1	24700236	24700237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:24700236_24700237insT	ENST00000374409.1	-	6	780_781	c.526_527insA	c.(526-528)accfs	p.T176fs	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Frame_Shift_Ins_p.T129fs|STPG1_ENST00000337248.4_Frame_Shift_Ins_p.T176fs|STPG1_ENST00000440416.1_Frame_Shift_Ins_p.T129fs	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	176					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCTCTTTGGGTTTTTGACATA	0.485																																						ENST00000374409.1																			0											c.(526-528)ccafs		sperm-tail PG-rich repeat containing 1																																				SO:0001589	frameshift_variant	90529							g.chr1:24700236_24700237insT	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.527dupA	1.37:g.24700241_24700241dupT	ENSP00000363530:p.Thr176fs		Somatic				STPG1_ENST00000440416.1_Frame_Shift_Ins_p.P129fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Frame_Shift_Ins_p.P176fs|STPG1_ENST00000003583.8_Frame_Shift_Ins_p.P129fs	p.P176fs	NM_001199012.1	NP_001185941.1	WXS	Illumina GAIIx	Phase_I					6	780_781	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Frame_Shift_Ins	INS	ENST00000374409.1	37	c.526_527insA	CCDS55581.1																																																																																				0.485	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		11	1520						11	1520	---	---	---	---
LDLRAP1	26119	broad.mit.edu	37	1	25889626	25889627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:25889626_25889627insC	ENST00000374338.4	+	6	717_718	c.598_599insC	c.(598-600)accfs	p.T200fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	200					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGACTGCACCCCCTCCTTG	0.634																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(598-600)cccfs		low density lipoprotein receptor adaptor protein 1																																				SO:0001589	frameshift_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25889626_25889627insC	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.603dupC	1.37:g.25889631_25889631dupC	ENSP00000363458:p.Thr200fs		Somatic				LDLRAP1_ENST00000488127.1_3'UTR	p.P200fs	NM_015627.2	NP_056442.2	WXS	Illumina GAIIx	Phase_I	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	6	717_718	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	200					A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Ins	INS	ENST00000374338.4	37	c.598_599insC	CCDS30639.1																																																																																				0.634	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		15	173						15	173	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs		Somatic				ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	p.GG1847fs	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		19	513						19	513	---	---	---	---
RAB42	115273	broad.mit.edu	37	1	28920546	28920547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:28920546_28920547insG	ENST00000373826.3	+	2	541_542	c.235_236insG	c.(235-237)tggfs	p.W79fs	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGCTGGGGGGGTGTC	0.584																																						ENST00000373826.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(235-237)gggfs		RAB42, member RAS oncogene family																																				SO:0001589	frameshift_variant	115273				small GTPase mediated signal transduction	membrane	GTP binding	g.chr1:28920546_28920547insG	BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.242dupG	1.37:g.28920553_28920553dupG	ENSP00000362932:p.Trp79fs		Somatic				RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	p.G79fs	NM_152304.1	NP_689517.1	WXS	Illumina GAIIx	Phase_I	Q8N4Z0	RAB42_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)	2	541_542	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	79					B2R5G2	Frame_Shift_Ins	INS	ENST00000373826.3	37	c.235_236insG	CCDS325.1																																																																																				0.584	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010371.1	NM_152304		7	140						7	140	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:31406073_31406074insG	ENST00000257075.5	-	22	3638_3639	c.3545_3546insC	c.(3544-3546)cctfs	p.P1182fs	PUM1_ENST00000373747.3_Frame_Shift_Ins_p.P1185fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.P1184fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.P1040fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.P940fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.P1123fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.P1220fs|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.P1158fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3553-3555)caafs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406073_31406074insG	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3546dupC	1.37:g.31406079_31406079dupG	ENSP00000257075:p.Pro1182fs		Somatic				PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs	p.Q1185fs	NM_001020658.1	NP_001018494.1	WXS	Illumina GAIIx	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3653_3654	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1182					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.3554_3555insC	CCDS338.1																																																																																				0.525	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			7	907						7	907	---	---	---	---
FABP3	2170	broad.mit.edu	37	1	31842272	31842273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:31842272_31842273insC	ENST00000373713.2	-	2	266_267	c.205_206insG	c.(205-207)gtgfs	p.V69fs	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	69					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ATCGAACTCCACCCCCAACTTA	0.475																																						ENST00000373713.2																			0				large_intestine(1)|lung(2)|ovary(2)	5						c.(205-207)ggafs		fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)																																				SO:0001589	frameshift_variant	2170				negative regulation of cell proliferation			g.chr1:31842272_31842273insC	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.206dupG	1.37:g.31842277_31842277dupC	ENSP00000362817:p.Val69fs		Somatic				FABP3_ENST00000497275.1_5'UTR	p.G69fs	NM_004102.3	NP_004093.1	WXS	Illumina GAIIx	Phase_I	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	2	266_267	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	69					B2RAB6|Q5VV93|Q99957	Frame_Shift_Ins	INS	ENST00000373713.2	37	c.205_206insG	CCDS342.1																																																																																				0.475	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		7	2565						7	2565	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32207235	32207236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32207235_32207236insG	ENST00000373658.3	-	10	2017_2018	c.1676_1677insC	c.(1675-1677)ccgfs	p.P559fs	BAI2_ENST00000398542.1_Frame_Shift_Ins_p.P492fs|BAI2_ENST00000398547.1_Frame_Shift_Ins_p.P492fs|BAI2_ENST00000373655.2_Frame_Shift_Ins_p.P559fs|BAI2_ENST00000527361.1_Frame_Shift_Ins_p.P559fs|BAI2_ENST00000398556.3_Frame_Shift_Ins_p.P507fs|BAI2_ENST00000257070.4_Frame_Shift_Ins_p.P559fs|BAI2_ENST00000440175.2_Frame_Shift_Ins_p.P201fs|BAI2_ENST00000398538.1_Frame_Shift_Ins_p.P547fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	559					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P559Q(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGAGGCATTCGGGGGGCACTT	0.594																																						ENST00000373658.3																			1	Substitution - Missense(1)	p.P559Q(1)	central_nervous_system(1)	breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1675-1677)caafs		brain-specific angiogenesis inhibitor 2																																				SO:0001589	frameshift_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207235_32207236insG	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1677dupC	1.37:g.32207241_32207241dupG	ENSP00000362762:p.Pro559fs		Somatic				BAI2_ENST00000398538.1_Frame_Shift_Ins_p.Q547fs|BAI2_ENST00000373655.2_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000398542.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000440175.2_Frame_Shift_Ins_p.Q201fs|BAI2_ENST00000398556.3_Frame_Shift_Ins_p.Q507fs|BAI2_ENST00000257070.4_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000398547.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000527361.1_Frame_Shift_Ins_p.Q559fs	p.Q559fs	NM_001703.2	NP_001694.2	WXS	Illumina GAIIx	Phase_I	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	10	2017_2018	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	559					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Frame_Shift_Ins	INS	ENST00000373658.3	37	c.1676_1677insC	CCDS346.2																																																																																				0.594	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		7	251						7	251	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.R271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.5																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(928-930)gggfs		KH domain containing, RNA binding, signal transduction associated 1																																				SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503458_32503459insG	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.934dupG	1.37:g.32503464_32503464dupG	ENSP00000313829:p.Arg310fs		Somatic				KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	p.G310fs	NM_006559.1	NP_006550.1	WXS	Illumina GAIIx	Phase_I	Q07666	KHDR1_HUMAN			6	1095_1096	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	310			Arg/Gly-rich.			Frame_Shift_Ins	INS	ENST00000327300.7	37	c.928_929insG	CCDS350.1																																																																																				0.500	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		11	702						11	702	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs		Somatic				IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	WXS	Illumina GAIIx	Phase_I	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		9	295						9	295	---	---	---	---
MARCKSL1	65108	broad.mit.edu	37	1	32800539	32800540	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32800539_32800540insG	ENST00000329421.7	-	2	591_592	c.246_247insC	c.(244-249)cccaagfs	p.K83fs		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	83					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.K83fs*33(2)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACCT	0.589																																						ENST00000329421.7																			2	Insertion - Frameshift(2)	p.K83fs*33(2)	large_intestine(2)	breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(244-249)ccaggafs		MARCKS-like 1																																				SO:0001589	frameshift_variant	65108					plasma membrane	calmodulin binding	g.chr1:32800539_32800540insG	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.247dupC	1.37:g.32800546_32800546dupG	ENSP00000362638:p.Lys83fs		Somatic					p.G83fs	NM_023009.6	NP_075385.1	WXS	Illumina GAIIx	Phase_I	P49006	MRP_HUMAN			2	591_592	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	83					D3DPQ0|Q5TEE6|Q6NXS5	Frame_Shift_Ins	INS	ENST00000329421.7	37	c.246_247insC	CCDS361.1																																																																																				0.589	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		9	228						9	228	---	---	---	---
BSDC1	55108	broad.mit.edu	37	1	32842206	32842207	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32842206_32842207insG	ENST00000455895.2	-	9	845_846	c.812_813insC	c.(811-813)ccafs	p.P271fs	BSDC1_ENST00000341071.7_Frame_Shift_Ins_p.P288fs|BSDC1_ENST00000413080.1_Frame_Shift_Ins_p.P210fs|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Frame_Shift_Ins_p.P271fs|BSDC1_ENST00000446293.2_Frame_Shift_Ins_p.P288fs|BSDC1_ENST00000419121.2_Frame_Shift_Ins_p.P215fs|BSDC1_ENST00000526031.1_Frame_Shift_Ins_p.P176fs	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	271										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCACCTCTGCTGGGGGCTCAAC	0.574																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(862-864)cgcfs		BSD domain containing 1																																				SO:0001589	frameshift_variant	55108						protein binding	g.chr1:32842206_32842207insG	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.813dupC	1.37:g.32842211_32842211dupG	ENSP00000412173:p.Pro271fs		Somatic				BSDC1_ENST00000446293.2_Frame_Shift_Ins_p.R288fs|BSDC1_ENST00000413080.1_Frame_Shift_Ins_p.R210fs|BSDC1_ENST00000419121.2_Frame_Shift_Ins_p.R215fs|BSDC1_ENST00000449308.1_Frame_Shift_Ins_p.R271fs|BSDC1_ENST00000526031.1_Frame_Shift_Ins_p.R176fs|BSDC1_ENST00000455895.2_Frame_Shift_Ins_p.R271fs	p.R288fs			WXS	Illumina GAIIx	Phase_I	Q9NW68	BSDC1_HUMAN			9	874_875	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	271					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Frame_Shift_Ins	INS	ENST00000455895.2	37	c.863_864insC	CCDS363.2																																																																																				0.574	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		7	2000						7	2000	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs		Somatic				KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			23	275						23	275	---	---	---	---
FNDC5	252995	broad.mit.edu	37	1	33330279	33330280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:33330279_33330280insC	ENST00000373471.3	-	5	684_685	c.618_619insG	c.(616-621)gggcttfs	p.L207fs	FNDC5_ENST00000481487.1_5'UTR|FNDC5_ENST00000609187.1_Frame_Shift_Ins_p.L132fs|FNDC5_ENST00000496770.1_Frame_Shift_Ins_p.L132fs	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	207					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGCGGAGAAGCCCCCCGCCCT	0.584																																						ENST00000373471.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(391-396)ggttctfs		fibronectin type III domain containing 5																																				SO:0001589	frameshift_variant	252995					integral to membrane|peroxisomal membrane		g.chr1:33330279_33330280insC	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.619dupG	1.37:g.33330285_33330285dupC	ENSP00000362570:p.Leu207fs		Somatic				FNDC5_ENST00000481487.1_5'UTR	p.S132fs	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	WXS	Illumina GAIIx	Phase_I	Q8NAU1	FNDC5_HUMAN			5	684_685	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	191					A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Frame_Shift_Ins	INS	ENST00000373471.3	37	c.393_394insG																																																																																					0.584	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		7	364						7	364	---	---	---	---
ZSCAN20	7579	broad.mit.edu	37	1	33955164	33955165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:33955164_33955165insC	ENST00000361328.3	+	5	881_882	c.728_729insC	c.(727-732)gaccccfs	p.DP243fs	ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	243					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCTGTAAAGACCCCCCAGGAG	0.545																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(727-729)gccfs		zinc finger and SCAN domain containing 20																																				SO:0001589	frameshift_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33955164_33955165insC	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.734dupC	1.37:g.33955170_33955170dupC	ENSP00000355053:p.Asp243fs		Somatic				ZSCAN20_ENST00000373413.2_Intron	p.A243fs	NM_145238.3	NP_660281.2	WXS	Illumina GAIIx	Phase_I	P17040	ZSC20_HUMAN			5	881_882	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	243					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Frame_Shift_Ins	INS	ENST00000361328.3	37	c.728_729insC	CCDS41300.1																																																																																				0.545	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		7	479						7	479	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34180227	34180228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:34180227_34180228insC	ENST00000373381.4	-	21	3541_3542	c.3365_3366insG	c.(3364-3366)ggcfs	p.G1122fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1082	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCGTCTGCCCCCCAGGCA	0.599																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3364-3366)gagfs		CUB and Sushi multiple domains 2																																				SO:0001589	frameshift_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180227_34180228insC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3366dupG	1.37:g.34180233_34180233dupC	ENSP00000362479:p.Gly1122fs		Somatic					p.E1122fs	NM_052896.3	NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			21	3541_3542	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1082			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Ins	INS	ENST00000373381.4	37	c.3365_3366insG																																																																																					0.599	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		29	2652						29	2652	---	---	---	---
BMP8B	656	broad.mit.edu	37	1	40228876	40228877	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:40228876_40228877insG	ENST00000372827.3	-	6	1324		c.e6-2		PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b						cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GACCCAGTCCTGGGGGGCAAGG	0.639																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.e6-2		bone morphogenetic protein 8b																																				SO:0001630	splice_region_variant	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40228876_40228877insG	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.949-2->C	1.37:g.40228882_40228882dupG			Somatic				PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron		NM_001720.3	NP_001711.2	WXS	Illumina GAIIx	Phase_I	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1324	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Splice_Site	INS	ENST00000372827.3	37		CCDS444.1																																																																																				0.639	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720	Intron	9	292						9	292	---	---	---	---
NFYC	4802	broad.mit.edu	37	1	41236477	41236478	+	Frame_Shift_Ins	INS	-	-	C	rs201602186		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:41236477_41236478insC	ENST00000308733.5	+	10	1360_1361	c.1354_1355insC	c.(1354-1356)gccfs	p.A452fs	NFYC_ENST00000427410.2_Frame_Shift_Ins_p.A291fs|NFYC_ENST00000447388.3_Frame_Shift_Ins_p.A329fs|NFYC_ENST00000372653.1_Frame_Shift_Ins_p.A295fs|NFYC_ENST00000425457.2_Frame_Shift_Ins_p.A348fs|NFYC_ENST00000372652.1_Frame_Shift_Ins_p.A433fs|NFYC_ENST00000440226.3_Frame_Shift_Ins_p.A329fs|NFYC_ENST00000372651.1_Frame_Shift_Ins_p.A329fs|NFYC_ENST00000372654.1_Frame_Shift_Ins_p.A329fs|NFYC_ENST00000456393.2_Frame_Shift_Ins_p.A328fs			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	452					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CGACGGGCAGGCCCCCCAGGTG	0.639																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(1297-1299)cccfs		nuclear transcription factor Y, gamma																																				SO:0001589	frameshift_variant	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41236477_41236478insC	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1360dupC	1.37:g.41236483_41236483dupC	ENSP00000312617:p.Ala452fs		Somatic				NFYC_ENST00000372651.1_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000372653.1_Frame_Shift_Ins_p.P295fs|NFYC_ENST00000372654.1_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000440226.3_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000447388.3_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000427410.2_Frame_Shift_Ins_p.P291fs|NFYC_ENST00000425457.2_Frame_Shift_Ins_p.P348fs|NFYC_ENST00000456393.2_Frame_Shift_Ins_p.P328fs|NFYC_ENST00000308733.5_Frame_Shift_Ins_p.P452fs	p.P433fs			WXS	Illumina GAIIx	Phase_I	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		10	1565_1566	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	452					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Frame_Shift_Ins	INS	ENST00000308733.5	37	c.1297_1298insC																																																																																					0.639	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		7	508						7	508	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392|rs371531691		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:42050006_42050007insG	ENST00000372583.1	-	4	1347_1348	c.462_463insC	c.(460-465)cccgagfs	p.E155fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.E155fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(460-465)ccaggafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050006_42050007insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.463dupC	1.37:g.42050012_42050012dupG	ENSP00000361664:p.Glu155fs		Somatic				HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1476_1477	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	155					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.462_463insC	CCDS463.1																																																																																				0.604	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		9	510						9	510	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050225	42050226	+	Frame_Shift_Ins	INS	-	-	G	rs371345318		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:42050225_42050226insG	ENST00000372583.1	-	4	1128_1129	c.243_244insC	c.(241-246)cccaaafs	p.K82fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.K82fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.K82fs|HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.K82fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	82					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGCCTTTTGGGGGGCTTCT	0.619																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(241-246)ccaaagfs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050225_42050226insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.244dupC	1.37:g.42050231_42050231dupG	ENSP00000361664:p.Lys82fs		Somatic				HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.PK81fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.PK81fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.PK81fs	p.PK81fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1257_1258	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	81					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.243_244insC	CCDS463.1																																																																																				0.619	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		8	591						8	591	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43223458	43223459	+	Frame_Shift_Ins	INS	-	-	G	rs548639069|rs559371057	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:43223458_43223459insG	ENST00000296388.5	-	5	1126_1127	c.1075_1076insC	c.(1075-1077)cgtfs	p.R359fs	LEPRE1_ENST00000236040.4_Frame_Shift_Ins_p.R359fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.R359fs			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	359					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.R359S(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCACCTCACGGGGGCCGATG	0.535											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000236040.4																			2	Substitution - Missense(2)	p.R359S(2)	lung(2)	large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1075-1077)tgafs		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43223458_43223459insG	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1076dupC	1.37:g.43223463_43223463dupG	ENSP00000296388:p.Arg359fs		Somatic	OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000296388.5_Frame_Shift_Ins_p.*359fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.*359fs	p.*359fs	NM_001243246.1	NP_001230175.1	WXS	Illumina GAIIx	Phase_I	Q32P28	P3H1_HUMAN			5	1115_1116	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	359					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Frame_Shift_Ins	INS	ENST00000296388.5	37	c.1075_1076insC	CCDS472.2																																																																																				0.535	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		7	1570						7	1570	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43778814	43778815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:43778814_43778815insC	ENST00000372476.3	+	13	2015_2016	c.1936_1937insC	c.(1936-1938)gccfs	p.A646fs	TIE1_ENST00000433781.2_Frame_Shift_Ins_p.A291fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	646	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCCTCCAGCCCCCCGACAC	0.629																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1936-1938)cccfs		tyrosine kinase with immunoglobulin-like and EGF-like domains 1																																				SO:0001589	frameshift_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778814_43778815insC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1942dupC	1.37:g.43778820_43778820dupC	ENSP00000361554:p.Ala646fs		Somatic				TIE1_ENST00000433781.2_Frame_Shift_Ins_p.P291fs	p.P646fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			13	2015_2016	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	646			Fibronectin type-III 3.		B5A949|B5A950	Frame_Shift_Ins	INS	ENST00000372476.3	37	c.1936_1937insC	CCDS482.1																																																																																				0.629	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		8	363						8	363	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43894059	43894060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:43894059_43894060insC	ENST00000562955.1	+	27	3897_3898	c.3897_3898insC	c.(3898-3900)cccfs	p.P1300fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.P458fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1357					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCTCATGCACCCCCAAGTCC	0.554																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(3895-3900)gcccccfs		seizure threshold 2 homolog (mouse)																																				SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43894059_43894060insC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3902dupC	1.37:g.43894064_43894064dupC	ENSP00000457168:p.Pro1300fs		Somatic				SZT2_ENST00000372442.1_Frame_Shift_Ins_p.AP457fs	p.AP1299fs	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			27	3897_3898	+			1356					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Ins	INS	ENST00000562955.1	37	c.3897_3898insC	CCDS30694.2																																																																																				0.554	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	635						14	635	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)gccfs	p.A696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.47																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2086-2088)cccfs		lysine (K)-specific demethylase 4A																																				SO:0001589	frameshift_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156564_44156565insC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2092dupC	1.37:g.44156570_44156570dupC	ENSP00000361473:p.Ala696fs		Somatic					p.P696fs	NM_014663.2	NP_055478.2	WXS	Illumina GAIIx	Phase_I	O75164	KDM4A_HUMAN			14	2220_2221	+			696					Q5VVB1	Frame_Shift_Ins	INS	ENST00000372396.3	37	c.2086_2087insC	CCDS491.1																																																																																				0.470	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		23	2540						23	2540	---	---	---	---
ST3GAL3	6487	broad.mit.edu	37	1	44386217	44386218	+	Frame_Shift_Ins	INS	-	-	G	rs137939894|rs554609799		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:44386217_44386218insG	ENST00000361392.4	+	10	1063_1064	c.886_887insG	c.(886-888)cggfs	p.R296fs	ST3GAL3_ENST00000372375.2_Frame_Shift_Ins_p.R350fs|ST3GAL3_ENST00000361746.4_Frame_Shift_Ins_p.R365fs|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361400.4_Frame_Shift_Ins_p.R280fs|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000262915.3_Frame_Shift_Ins_p.R365fs|ST3GAL3_ENST00000347631.2_Frame_Shift_Ins_p.R311fs|ST3GAL3_ENST00000372374.2_Frame_Shift_Ins_p.R265fs|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000332628.6_Frame_Shift_Ins_p.R265fs|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000351035.3_Frame_Shift_Ins_p.R334fs|ST3GAL3_ENST00000372369.1_Frame_Shift_Ins_p.R266fs|ST3GAL3_ENST00000335430.6_Frame_Shift_Ins_p.G218fs|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372372.2_Frame_Shift_Ins_p.R334fs|ST3GAL3_ENST00000372368.2_Frame_Shift_Ins_p.R350fs|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	296					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.R365Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTCATGGGCCGGGGGGTGAGA	0.604																																						ENST00000262915.3																			1	Substitution - Missense(1)	p.R365Q(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(1093-1095)gggfs		ST3 beta-galactoside alpha-2,3-sialyltransferase 3																																				SO:0001589	frameshift_variant	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44386217_44386218insG	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.891dupG	1.37:g.44386223_44386223dupG	ENSP00000355341:p.Arg296fs		Somatic				ST3GAL3_ENST00000361746.4_Frame_Shift_Ins_p.G365fs|ST3GAL3_ENST00000372375.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000372369.1_Frame_Shift_Ins_p.G266fs|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000335430.6_Frame_Shift_Ins_p.AG217fs|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372372.2_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000372374.2_Frame_Shift_Ins_p.G265fs|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361392.4_Frame_Shift_Ins_p.G296fs|ST3GAL3_ENST00000361400.4_Frame_Shift_Ins_p.G280fs|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000351035.3_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000347631.2_Frame_Shift_Ins_p.G311fs|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000332628.6_Frame_Shift_Ins_p.G265fs	p.G365fs	NM_174963.3	NP_777623.2	WXS	Illumina GAIIx	Phase_I	Q11203	SIAT6_HUMAN			11	1270_1271	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	296					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Frame_Shift_Ins	INS	ENST00000361392.4	37	c.1093_1094insG	CCDS492.1																																																																																				0.604	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		16	419						16	419	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44437613	44437614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:44437613_44437614insC	ENST00000255108.3	+	4	1211_1212	c.1039_1040insC	c.(1039-1041)gccfs	p.A347fs	DPH2_ENST00000412950.2_Frame_Shift_Ins_p.A212fs|ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	347					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGGTGCTCTAGCCCCCCAGCTT	0.609																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(1039-1041)cccfs		DPH2 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437613_44437614insC	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1045dupC	1.37:g.44437619_44437619dupC	ENSP00000255108:p.Ala347fs		Somatic				DPH2_ENST00000412950.2_Frame_Shift_Ins_p.P212fs|DPH2_ENST00000396758.2_Intron	p.P347fs	NM_001384.4	NP_001375.2	WXS	Illumina GAIIx	Phase_I	Q9BQC3	DPH2_HUMAN			4	1211_1212	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	347					A8MVC9|B2RDE3|B4DNI8|O60623	Frame_Shift_Ins	INS	ENST00000255108.3	37	c.1039_1040insC	CCDS504.1																																																																																				0.609	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		12	975						12	975	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46494558	46494559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:46494558_46494559insT	ENST00000361297.2	+	18	2454_2455	c.2171_2172insT	c.(2170-2175)ccttttfs	p.PF724fs	MAST2_ENST00000372009.2_Frame_Shift_Ins_p.PF654fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTGCGTCCCTTTTTTTGGAG	0.55																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2170-2172)cttfs		microtubule associated serine/threonine kinase 2																																				SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494558_46494559insT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2178dupT	1.37:g.46494565_46494565dupT	ENSP00000354671:p.Pro724fs		Somatic				MAST2_ENST00000372008.1_Frame_Shift_Ins_p.L609fs|MAST2_ENST00000372009.2_Frame_Shift_Ins_p.L654fs	p.L724fs	NM_015112.2	NP_055927.2	WXS	Illumina GAIIx	Phase_I	Q6P0Q8	MAST2_HUMAN			18	2454_2455	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		724			Protein kinase.			Frame_Shift_Ins	INS	ENST00000361297.2	37	c.2171_2172insT	CCDS41326.1																																																																																				0.550	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		8	675						8	675	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52824122	52824123	+	Frame_Shift_Ins	INS	-	-	G	rs147528491		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:52824122_52824123insG	ENST00000371586.2	-	13	1479_1480	c.1341_1342insC	c.(1339-1344)cccatcfs	p.I448fs	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Frame_Shift_Ins_p.I448fs|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	448						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCCAGGGATGGGGGGAAATC	0.629																																						ENST00000371586.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1339-1344)cctcccfs		coiled-coil and C2 domain containing 1B																																				SO:0001589	frameshift_variant	200014							g.chr1:52824122_52824123insG	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1342dupC	1.37:g.52824128_52824128dupG	ENSP00000360642:p.Ile448fs		Somatic				CC2D1B_ENST00000284376.3_Frame_Shift_Ins_p.P448fs|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR	p.P448fs	NM_032449.2	NP_115825.1	WXS	Illumina GAIIx	Phase_I	Q5T0F9	C2D1B_HUMAN			13	1479_1480	-			448					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Frame_Shift_Ins	INS	ENST00000371586.2	37	c.1341_1342insC	CCDS30714.1																																																																																				0.629	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		9	309						9	309	---	---	---	---
ECHDC2	55268	broad.mit.edu	37	1	53370708	53370709	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:53370708_53370709insC	ENST00000371522.4	-	6	604_605	c.511_512insG	c.(511-513)gcafs	p.A171fs	ECHDC2_ENST00000536120.1_Frame_Shift_Ins_p.A125fs|ECHDC2_ENST00000358358.5_Frame_Shift_Ins_p.A140fs	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	171					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GCGATTACCTGCCCCCGGGAGG	0.614																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(373-375)aggfs		enoyl CoA hydratase domain containing 2			,,	1,4265		0,1,2132					,,	4.8	1.0			86	1,8253		0,1,4126	no	frameshift,frameshift,frameshift	ECHDC2	NM_018281.3,NM_001198962.1,NM_001198961.1	,,	0,2,6258	A1A1,A1R,RR		0.0121,0.0234,0.016	,,	,,		2,12518				SO:0001589	frameshift_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370708_53370709insC	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.512dupG	1.37:g.53370713_53370713dupC	ENSP00000360577:p.Ala171fs		Somatic				ECHDC2_ENST00000371522.4_Frame_Shift_Ins_p.R171fs|ECHDC2_ENST00000358358.5_Frame_Shift_Ins_p.R140fs	p.R125fs			WXS	Illumina GAIIx	Phase_I	Q86YB7	ECHD2_HUMAN			9	1190_1191	-			171					D3DQ36|Q9NV38	Frame_Shift_Ins	INS	ENST00000371522.4	37	c.373_374insG	CCDS55600.1																																																																																				0.614	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		7	508						7	508	---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57254648	57254649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:57254648_57254649insC	ENST00000343433.6	-	3	996_997	c.916_917insG	c.(916-918)gaafs	p.E306fs	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	306										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCCTTACCTTCCCCCTGAGTC	0.594																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(916-918)agtfs		chromosome 1 open reading frame 168																																				SO:0001589	frameshift_variant	199920							g.chr1:57254648_57254649insC	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.917dupG	1.37:g.57254653_57254653dupC	ENSP00000345972:p.Glu306fs		Somatic				C1orf168_ENST00000484327.1_5'UTR	p.S306fs	NM_001004303.4	NP_001004303.3	WXS	Illumina GAIIx	Phase_I	Q5VWT5	CA168_HUMAN			3	996_997	-			306					Q63HM3|Q6ZUY6	Frame_Shift_Ins	INS	ENST00000343433.6	37	c.916_917insG	CCDS30729.1																																																																																				0.594	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		8	1281						8	1281	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976|rs201318657		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:57491653_57491654insG	ENST00000371231.1	-	11	919_920		c.e11+1		DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000371236.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.e10+1		Dab, reelin signal transducer, homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57491653_57491654insG	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.885+1->C	1.37:g.57491659_57491659dupG			Somatic				DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000371231.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O75553	DAB1_HUMAN			10	1049_1050	-								A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	INS	ENST00000371231.1	37																																																																																						0.465	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron	9	1153						9	1153	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62293159	62293160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:62293159_62293160insC	ENST00000371158.2	+	16	1998_1999	c.1884_1885insC	c.(1885-1887)cccfs	p.P629fs	INADL_ENST00000316485.6_Frame_Shift_Ins_p.P629fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	629	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGAAGTGCCACCCCCTTTTAC	0.47																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1882-1887)ccccccfs		InaD-like (Drosophila)																																				SO:0001589	frameshift_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62293159_62293160insC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1889dupC	1.37:g.62293164_62293164dupC	ENSP00000360200:p.Pro629fs		Somatic				INADL_ENST00000316485.6_Frame_Shift_Ins_p.PP628fs	p.PP628fs	NM_176877.2	NP_795352.2	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			16	1998_1999	+			628			PDZ 4.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Ins	INS	ENST00000371158.2	37	c.1884_1885insC	CCDS617.2																																																																																				0.470	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		7	959						7	959	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75036818	75036819	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:75036818_75036819insG	ENST00000326665.5	-	14	4793_4794	c.4575_4576insC	c.(4573-4578)cccaacfs	p.N1526fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1526										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCACGTTGTTGGGGGAAACAT	0.515																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4573-4578)ccacaafs		chromosome 1 open reading frame 173																																				SO:0001589	frameshift_variant	127254							g.chr1:75036818_75036819insG																												ENST00000326665.5:c.4576dupC	1.37:g.75036823_75036823dupG	ENSP00000322609:p.Asn1526fs		Somatic				C1orf173_ENST00000433746.2_5'UTR	p.Q1526fs	NM_001002912.4	NP_001002912.4	WXS	Illumina GAIIx	Phase_I	Q5RHP9	CA173_HUMAN			14	4793_4794	-			1526					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Ins	INS	ENST00000326665.5	37	c.4575_4576insC	CCDS30755.1																																																																																				0.515	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	2508						8	2508	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Somatic					p.G170fs	NM_173567.4	NP_775838.3	WXS	Illumina GAIIx	Phase_I	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		28	426						28	426	---	---	---	---
CDC14A	8556	broad.mit.edu	37	1	100964709	100964710	+	Frame_Shift_Ins	INS	-	-	C	rs35385659	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:100964709_100964710insC	ENST00000336454.3	+	15	2001_2002	c.1646_1647insC	c.(1645-1650)agccccfs	p.SP549fs	CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.SP549fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.SP491fs|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.SP549fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	549					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)		AACCTGAACAGCCCCCCAGGCC	0.559																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1645-1647)accfs		cell division cycle 14A																																				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.chr1:100964709_100964710insC	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.1652dupC	1.37:g.100964715_100964715dupC	ENSP00000336739:p.Ser549fs		Somatic				CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T549fs|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T491fs|CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T549fs	p.T549fs	NM_003672.3	NP_003663.2	WXS	Illumina GAIIx	Phase_I	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)	15	2001_2002	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	549					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Ins	INS	ENST00000336454.3	37	c.1646_1647insC	CCDS769.1																																																																																				0.559	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		7	243						7	243	---	---	---	---
MYBPHL	343263	broad.mit.edu	37	1	109840130	109840131	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:109840130_109840131insCC	ENST00000357155.1	-	3	392_393	c.343_344insGG	c.(343-345)gccfs	p.A115fs	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	115	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGCACGTTGGGCTTCTCGGATG	0.594																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(343-345)ccafs		myosin binding protein H-like																																				SO:0001589	frameshift_variant	343263							g.chr1:109840130_109840131insCC	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.343_344insGG	1.37:g.109840130_109840131insCC	ENSP00000349678:p.Ala115fs		Somatic				MYBPHL_ENST00000477962.1_Intron	p.P115fs	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	WXS	Illumina GAIIx	Phase_I	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	3	392_393	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	115			Ig-like C2-type 1.		B7ZME5|Q5T2Z7	Frame_Shift_Ins	INS	ENST00000357155.1	37	c.343_344insGG	CCDS30793.1																																																																																				0.594	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		100	621						100	621	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		70	1062						70	1062	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)gcafs	p.A187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.A172fs	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(559-561)acgfs		family with sequence similarity 212, member B																																				SO:0001589	frameshift_variant	55924							g.chr1:112269924_112269925insC	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.560dupG	1.37:g.112269931_112269931dupC	ENSP00000349805:p.Ala187fs		Somatic				FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	p.T187fs	NM_019099.4	NP_061972.1	WXS	Illumina GAIIx	Phase_I	Q9NTI7	CA183_HUMAN			2	740_741	-			187					B3KP38|B4DF94|Q9NTI6	Frame_Shift_Ins	INS	ENST00000357260.5	37	c.559_560insG	CCDS841.1																																																																																				0.579	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		17	307						17	307	---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114641766	114641767	+	Frame_Shift_Ins	INS	-	-	G	rs200649940		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:114641766_114641767insG	ENST00000610222.1	-	5	1459_1460	c.1313_1314insC	c.(1312-1314)ccgfs	p.P438fs	SYT6_ENST00000393296.1_Frame_Shift_Ins_p.P438fs|SYT6_ENST00000609117.1_Frame_Shift_Ins_p.P353fs|SYT6_ENST00000607941.1_Frame_Shift_Ins_p.P353fs|SYT6_ENST00000369547.1_Frame_Shift_Ins_p.P353fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	438	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.P353P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTTTTCCGGGGGAATGTC	0.48																																						ENST00000393296.1																			1	Substitution - coding silent(1)	p.P353P(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1312-1314)cgafs		synaptotagmin VI																																				SO:0001589	frameshift_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114641766_114641767insG		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1314dupC	1.37:g.114641771_114641771dupG	ENSP00000476396:p.Pro438fs		Somatic				SYT6_ENST00000369547.1_Frame_Shift_Ins_p.R353fs	p.R438fs			WXS	Illumina GAIIx	Phase_I	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1390_1391	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	438			C2 2.		B1AMB8|B3KPK1	Frame_Shift_Ins	INS	ENST00000610222.1	37	c.1313_1314insC																																																																																					0.480	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		11	2466						11	2466	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117131467	117131468	+	Frame_Shift_Ins	INS	-	-	C	rs200127721		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:117131467_117131468insC	ENST00000369486.3	-	8	3053_3054	c.2288_2289insG	c.(2287-2289)ggcfs	p.G763fs	IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.G783fs|IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.G783fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	763	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G763D(1)|p.G783D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGCTGAACAGGCCCCCCGACAC	0.614																																						ENST00000369486.3																			2	Substitution - Missense(2)	p.G763D(1)|p.G783D(1)	kidney(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(2287-2289)gctfs		immunoglobulin superfamily, member 3																																				SO:0001589	frameshift_variant	3321					integral to membrane		g.chr1:117131467_117131468insC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2289dupG	1.37:g.117131473_117131473dupC	ENSP00000358498:p.Gly763fs		Somatic				IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.A783fs|IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.A783fs	p.A763fs	NM_001007237.1	NP_001007238.1	WXS	Illumina GAIIx	Phase_I	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	3053_3054	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	763			Ig-like C2-type 6.		A6NJZ6|A6NMC7	Frame_Shift_Ins	INS	ENST00000369486.3	37	c.2288_2289insG	CCDS30813.1																																																																																				0.614	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		13	386						13	386	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120458435	120458436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:120458435_120458436insG	ENST00000256646.2	-	34	7128_7129	c.6909_6910insC	c.(6907-6912)cccattfs	p.I2304fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2304					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGTCACAATGGGGGGCAAGG	0.649			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(6907-6912)ccttgtfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458435_120458436insG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6910dupC	1.37:g.120458441_120458441dupG	ENSP00000256646:p.Ile2304fs		Somatic					p.C2304fs	NM_024408.3	NP_077719.2	WXS	Illumina GAIIx	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7128_7129	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2304					Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	ENST00000256646.2	37	c.6909_6910insC	CCDS908.1																																																																																				0.649	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	401						10	401	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		15	1208						15	1208	---	---	---	---
GJA5	2702	broad.mit.edu	37	1	147230551	147230552	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:147230551_147230552insG	ENST00000271348.2	-	2	956_957	c.795_796insC	c.(793-798)cccgacfs	p.D266fs	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Frame_Shift_Ins_p.D266fs	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	266					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.P265P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGATTAAAGTCGGGGGGTGGTG	0.53																																						ENST00000271348.2																			1	Substitution - coding silent(1)	p.P265P(1)	lung(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(793-798)ccacttfs		gap junction protein, alpha 5, 40kDa																																				SO:0001589	frameshift_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230551_147230552insG		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.796dupC	1.37:g.147230557_147230557dupG	ENSP00000271348:p.Asp266fs		Somatic				GJA5_ENST00000369237.1_Frame_Shift_Ins_p.L266fs	p.L266fs	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	WXS	Illumina GAIIx	Phase_I	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	956_957	-	all_hematologic(923;0.0276)		266					Q5T3B6|Q5U0N6	Frame_Shift_Ins	INS	ENST00000271348.2	37	c.795_796insC	CCDS929.1																																																																																				0.530	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		11	460						11	460	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)ggcfs	p.G125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.G125fs	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(373-375)gttfs		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)																																			SO:0001589	frameshift_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885018_149885019insC	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.375dupG	1.37:g.149885025_149885025dupC	ENSP00000358142:p.Gly125fs		Somatic				SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	p.V125fs	NM_014849.3	NP_055664.3	WXS	Illumina GAIIx	Phase_I	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	864_865	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		125					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Frame_Shift_Ins	INS	ENST00000369146.3	37	c.374_375insG	CCDS940.1																																																																																				0.629	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			7	151						7	151	---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149916719	149916720	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:149916719_149916720insC	ENST00000369135.4	-	12	1862_1863	c.1568_1569insG	c.(1567-1569)ggcfs	p.G523fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	523					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGTGCATCAGGCCCCCCATGTT	0.54																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1567-1569)gctfs		OTU domain containing 7B																																				SO:0001589	frameshift_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916719_149916720insC	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1569dupG	1.37:g.149916725_149916725dupC	ENSP00000358131:p.Gly523fs		Somatic					p.A523fs	NM_020205.2	NP_064590.2	WXS	Illumina GAIIx	Phase_I	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1862_1863	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		523					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Frame_Shift_Ins	INS	ENST00000369135.4	37	c.1568_1569insG	CCDS41389.1																																																																																				0.540	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		9	610						9	610	---	---	---	---
PLEKHO1	51177	broad.mit.edu	37	1	150129649	150129650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150129649_150129650insC	ENST00000369124.4	+	5	772_773	c.494_495insC	c.(493-498)cgccccfs	p.RP165fs	PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000369126.1_Intron|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	165	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCGCCGCCCCCCAACAA	0.505																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(493-495)cccfs		pleckstrin homology domain containing, family O member 1																																				SO:0001589	frameshift_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150129649_150129650insC	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.500dupC	1.37:g.150129655_150129655dupC	ENSP00000358120:p.Arg165fs		Somatic				PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000369126.1_Intron|PLEKHO1_ENST00000479194.1_3'UTR	p.P165fs	NM_016274.4	NP_057358.2	WXS	Illumina GAIIx	Phase_I	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	772_773	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		165			Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Frame_Shift_Ins	INS	ENST00000369124.4	37	c.494_495insC	CCDS945.1																																																																																				0.505	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		12	612						12	612	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150471073	150471074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150471073_150471074insG	ENST00000369064.3	+	11	1368_1369	c.1334_1335insG	c.(1333-1338)ctggggfs	p.LG445fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.LG363fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.LG315fs|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	445					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCTGGTGGTCTGGGGGGACTGA	0.609																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1333-1335)cggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471073_150471074insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1340dupG	1.37:g.150471079_150471079dupG	ENSP00000358060:p.Leu445fs		Somatic				TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.R363fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.R315fs|TARS2_ENST00000463555.1_3'UTR	p.R445fs	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	1368_1369	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		445					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1334_1335insG	CCDS952.1																																																																																				0.609	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		15	1137						15	1137	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1810-1812)gggfs	p.G604fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.G522fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.G474fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	604					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569																																						ENST00000369064.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.C603C(2)|p.G604W(1)	urinary_tract(1)|lung(1)|endometrium(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1807-1812)tgggggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477198_150477199insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1815dupG	1.37:g.150477204_150477204dupG	ENSP00000358060:p.Gly604fs		Somatic				TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	p.WG603fs	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	1843_1844	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		603					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1809_1810insG	CCDS952.1																																																																																				0.569	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		10	992						10	992	---	---	---	---
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(136-138)cccfs	p.P46fs	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.P46fs|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.P46fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	46					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(133-138)gcccccfs		extracellular matrix protein 1																																				SO:0001589	frameshift_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482150_150482151insC	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.141dupC	1.37:g.150482156_150482156dupC	ENSP00000358043:p.Pro46fs		Somatic				ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs	p.AP45fs	NM_004425.3	NP_004416.2	WXS	Illumina GAIIx	Phase_I	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		3	260_261	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		45					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Frame_Shift_Ins	INS	ENST00000369047.4	37	c.135_136insC	CCDS953.1																																																																																				0.584	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		7	947						7	947	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150933158	150933159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150933158_150933159insC	ENST00000271640.5	+	16	2810_2811	c.2620_2621insC	c.(2620-2622)gccfs	p.A874fs	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.A874fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	874	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGAGTGATGCCCCCTGTTCC	0.49																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2620-2622)cccfs		SET domain, bifurcated 1																																				SO:0001589	frameshift_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933158_150933159insC	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2625dupC	1.37:g.150933163_150933163dupC	ENSP00000271640:p.Ala874fs		Somatic				SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P874fs|SETDB1_ENST00000459773.1_3'UTR	p.P874fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	WXS	Illumina GAIIx	Phase_I	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	2810_2811	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		874			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.2620_2621insC	CCDS44217.1																																																																																				0.490	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			8	1598						8	1598	---	---	---	---
VPS72	6944	broad.mit.edu	37	1	151149363	151149364	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151149363_151149364insG	ENST00000354473.4	-	6	920_921	c.884_885insC	c.(883-885)ccafs	p.P295fs	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'UTR|TMOD4_ENST00000416280.2_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	284					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGGACTTTTGGGGGCCGCCC	0.569																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(883-885)caafs		vacuolar protein sorting 72 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151149363_151149364insG	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.885dupC	1.37:g.151149368_151149368dupG	ENSP00000346464:p.Pro295fs		Somatic				VPS72_ENST00000496809.1_5'UTR	p.Q295fs	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	WXS	Illumina GAIIx	Phase_I	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	920_921	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		284					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Frame_Shift_Ins	INS	ENST00000354473.4	37	c.884_885insC	CCDS59201.1																																																																																				0.569	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		7	314						7	314	---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151377673	151377674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151377673_151377674insT	ENST00000271715.2	-	19	4151_4152	c.3837_3838insA	c.(3835-3840)aaatggfs	p.W1280fs	POGZ_ENST00000491586.1_Frame_Shift_Ins_p.W1236fs|POGZ_ENST00000368863.2_Frame_Shift_Ins_p.W1185fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.W1227fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.W1271fs|POGZ_ENST00000392723.1_Frame_Shift_Ins_p.W1227fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.W1218fs|POGZ_ENST00000540984.1_Frame_Shift_Ins_p.W642fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1280	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTCCTTCCATTTTTTATGCA	0.48																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3835-3840)aaggaafs		pogo transposable element with ZNF domain																																				SO:0001589	frameshift_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377673_151377674insT	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3838dupA	1.37:g.151377679_151377679dupT	ENSP00000271715:p.Trp1280fs		Somatic				POGZ_ENST00000368863.2_Frame_Shift_Ins_p.E1185fs|POGZ_ENST00000392723.1_Frame_Shift_Ins_p.E1227fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.E1218fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.E1236fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.E1227fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.E1271fs|POGZ_ENST00000540984.1_Frame_Shift_Ins_p.E642fs	p.E1280fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	WXS	Illumina GAIIx	Phase_I	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4151_4152	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1280			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Ins	INS	ENST00000271715.2	37	c.3837_3838insA	CCDS997.1																																																																																				0.480	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		8	1572						8	1572	---	---	---	---
CELF3	11189	broad.mit.edu	37	1	151681714	151681715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151681714_151681715insC	ENST00000290583.4	-	4	1180_1181	c.387_388insG	c.(385-390)gggccafs	p.P130fs	RIIAD1_ENST00000326413.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_5'Flank|CELF3_ENST00000290585.4_Frame_Shift_Ins_p.P130fs	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	130	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GTGCCATCTGGCCCCCGGAGCA	0.614																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(385-390)ggcagafs		CUGBP, Elav-like family member 3																																				SO:0001589	frameshift_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151681714_151681715insC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.388dupG	1.37:g.151681719_151681719dupC	ENSP00000290583:p.Pro130fs		Somatic				CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Frame_Shift_Ins_p.R130fs	p.R130fs	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	WXS	Illumina GAIIx	Phase_I	Q5SZQ8	CELF3_HUMAN			4	1180_1181	-			130			RRM 2.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Frame_Shift_Ins	INS	ENST00000290583.4	37	c.387_388insG	CCDS1002.1																																																																																				0.614	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		7	1817						7	1817	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325997	152325998	+	Frame_Shift_Ins	INS	-	-	ATCCCCT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152325997_152325998insATCCCCT	ENST00000388718.5	-	3	4336_4337	c.4264_4265insAGGGGAT	c.(4264-4266)tctfs	p.S1422fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1422					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTATGGCCAGATCCCCTTCTT	0.53																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4264-4266)tggfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325997_152325998insATCCCCT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4258_4264dupAGGGGAT	1.37:g.152325998_152326004dupATCCCCT	ENSP00000373370:p.Ser1422fs		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.W1422fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4336_4337	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1422					Q9H4U1	Frame_Shift_Ins	INS	ENST00000388718.5	37	c.4264_4265insAGGGGAT	CCDS30861.1																																																																																				0.530	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		16	1118						16	1118	---	---	---	---
LCE3B	353143	broad.mit.edu	37	1	152586348	152586349	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152586348_152586349insC	ENST00000335633.1	+	1	62_63	c.62_63insC	c.(61-66)tgccccfs	p.CP21fs		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	21	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		TCACCCAAGTGCCCCCCAAAGA	0.619																																						ENST00000335633.1																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(61-63)tccfs		late cornified envelope 3B																																				SO:0001589	frameshift_variant	353143				keratinization			g.chr1:152586348_152586349insC		CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"""Late cornified envelopes"""	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.68dupC	1.37:g.152586354_152586354dupC	ENSP00000335358:p.Cys21fs		Somatic					p.S21fs	NM_178433.1	NP_848520.1	WXS	Illumina GAIIx	Phase_I	Q5TA77	LCE3B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)	1	62_63	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		21			Cys-rich.			Frame_Shift_Ins	INS	ENST00000335633.1	37	c.62_63insC	CCDS1016.1																																																																																				0.619	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034515.2	NM_178433		8	425						8	425	---	---	---	---
LCE2C	353140	broad.mit.edu	37	1	152648575	152648576	+	Frame_Shift_Ins	INS	-	-	C	rs561716750	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152648575_152648576insC	ENST00000368783.1	+	2	139_140	c.84_85insC	c.(85-87)cccfs	p.P29fs	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	29	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cacctaagtgtccccccaaATG	0.589																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(82-87)tgccccfs		late cornified envelope 2C																																				SO:0001589	frameshift_variant	353140				keratinization			g.chr1:152648575_152648576insC		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.90dupC	1.37:g.152648581_152648581dupC	ENSP00000357772:p.Pro29fs		Somatic				LCE2B_ENST00000417924.2_Intron	p.CP28fs	NM_178429.2	NP_848516.1	WXS	Illumina GAIIx	Phase_I	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	139_140	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		28			Cys-rich.			Frame_Shift_Ins	INS	ENST00000368783.1	37	c.84_85insC	CCDS1019.1																																																																																				0.589	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		12	1050						12	1050	---	---	---	---
SPRR4	163778	broad.mit.edu	37	1	152944453	152944454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152944453_152944454insC	ENST00000328051.2	+	2	136_137	c.87_88insC	c.(88-90)cccfs	p.P30fs		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	30	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGTCAGCCACCCCCTGTTAA	0.574																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(85-90)ccccccfs		small proline-rich protein 4																																				SO:0001589	frameshift_variant	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944453_152944454insC	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.92dupC	1.37:g.152944458_152944458dupC	ENSP00000332163:p.Pro30fs		Somatic					p.PP29fs	NM_173080.1	NP_775103.1	WXS	Illumina GAIIx	Phase_I	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	136_137	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Gln-rich.		Q2M1Y7|Q5T522	Frame_Shift_Ins	INS	ENST00000328051.2	37	c.87_88insC	CCDS1031.1																																																																																				0.574	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		7	588						7	588	---	---	---	---
CREB3L4	148327	broad.mit.edu	37	1	153941096	153941097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:153941096_153941097insC	ENST00000368607.3	+	2	361_362	c.95_96insC	c.(94-99)tgccccfs	p.CP32fs	SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000405694.3_5'UTR|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.CP32fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	32					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACTCCACTGCCCCCCTCCAG	0.614																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(94-96)tccfs		cAMP responsive element binding protein 3-like 4																																				SO:0001589	frameshift_variant	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941096_153941097insC	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.101dupC	1.37:g.153941102_153941102dupC	ENSP00000357596:p.Cys32fs		Somatic				CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000405694.3_5'UTR	p.S32fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	WXS	Illumina GAIIx	Phase_I	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	361_362	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		32					D3DV62|Q5T4L0|Q86YW6	Frame_Shift_Ins	INS	ENST00000368607.3	37	c.95_96insC	CCDS1056.1																																																																																				0.614	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		25	1513						25	1513	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-426)ttggggfs		HCLS1 associated protein X-1																																				SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs		Somatic				HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs	p.LG141fs	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	636_637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141		F -> L (in SCN3; mild form).	Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		11	344						11	344	---	---	---	---
SHC1	6464	broad.mit.edu	37	1	154938467	154938468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:154938467_154938468insG	ENST00000368445.5	-	10	1552_1553	c.1338_1339insC	c.(1336-1341)cccaatfs	p.N447fs	PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.N218fs|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.N248fs|SHC1_ENST00000368450.1_Frame_Shift_Ins_p.N337fs|SHC1_ENST00000448116.2_Frame_Shift_Ins_p.N448fs|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.N338fs	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	447	CH1.|Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATAGCAGGATTGGGGGGCCCAG	0.569																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(1339-1344)ccatccfs		SHC (Src homology 2 domain containing) transforming protein 1																																				SO:0001589	frameshift_variant	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154938467_154938468insG	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1339dupC	1.37:g.154938473_154938473dupG	ENSP00000357430:p.Asn447fs		Somatic				SHC1_ENST00000368445.5_Frame_Shift_Ins_p.S447fs|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.S248fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.S218fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.S338fs|SHC1_ENST00000368450.1_Frame_Shift_Ins_p.S337fs	p.S448fs	NM_001130040.1	NP_001123512.1	WXS	Illumina GAIIx	Phase_I	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1561_1562	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		447			CH1.|Pro-rich.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Ins	INS	ENST00000368445.5	37	c.1341_1342insC	CCDS30881.1																																																																																				0.569	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		8	791						8	791	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155408568	155408569	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:155408568_155408569insG	ENST00000368346.3	-	5	6016_6017	c.5377_5378insC	c.(5377-5379)catfs	p.H1793fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.H1793fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1793					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.H1793Y(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTGATATGATGGGGGGAACAG	0.446																																						ENST00000368346.3																			1	Substitution - Missense(1)	p.H1793Y(1)	lung(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5377-5379)tcafs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408568_155408569insG	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5378dupC	1.37:g.155408574_155408574dupG	ENSP00000357330:p.His1793fs		Somatic				ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.S1793fs	p.S1793fs			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	6016_6017	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1793					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.5377_5378insC																																																																																					0.446	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		9	504						9	504	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156628493	156628494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:156628493_156628494insC	ENST00000329117.5	+	13	2932_2933	c.2596_2597insC	c.(2596-2598)gccfs	p.A866fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	866	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGTTGGGAGGCCCCCCAGATC	0.604																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2596-2598)cccfs		brevican																																				SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628493_156628494insC	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2602dupC	1.37:g.156628499_156628499dupC	ENSP00000331210:p.Ala866fs		Somatic				BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.P866fs	NM_021948.4	NP_068767.3	WXS	Illumina GAIIx	Phase_I	Q96GW7	PGCB_HUMAN			13	2932_2933	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		866			Sushi.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Ins	INS	ENST00000329117.5	37	c.2596_2597insC	CCDS1149.1																																																																																				0.604	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	504						8	504	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs		Somatic				MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs	p.L18fs			WXS	Illumina GAIIx	Phase_I	Q96A35	RM24_HUMAN			2	188_189	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		14	225						14	225	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158059509	158059510	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:158059509_158059510insC	ENST00000359209.6	+	10	1240_1241	c.1173_1174insC	c.(1174-1176)ccc>Cccc	p.P392fs	KIRREL_ENST00000368172.1_Splice_Site_p.P206fs|KIRREL_ENST00000416935.2_Splice_Site_p.P292fs|KIRREL_ENST00000392272.2_Splice_Site_p.P289fs|KIRREL_ENST00000360089.4_Splice_Site_p.P228fs|KIRREL_ENST00000368173.3_Splice_Site_p.P408fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	392	Ig-like C2-type 5.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGCTTGCAGGGCCCCCCATCAT	0.579																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.e6-1		kin of IRRE like (Drosophila)																																				SO:0001630	splice_region_variant	55243					integral to membrane		g.chr1:158059509_158059510insC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1172-1->C	1.37:g.158059515_158059515dupC			Somatic				KIRREL_ENST00000416935.2_Splice_Site_p.GP291_splice|KIRREL_ENST00000392272.2_Splice_Site_p.GP288_splice|KIRREL_ENST00000360089.4_Splice_Site_p.GP227_splice|KIRREL_ENST00000359209.6_Splice_Site_p.GP391_splice|KIRREL_ENST00000368173.3_Splice_Site_p.GP407_splice	p.GP205_splice			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			6	627_628	+	all_hematologic(112;0.0378)		391			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Splice_Site	INS	ENST00000359209.6	37	c.613_splice	CCDS1172.2																																																																																				0.579	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	Frame_Shift_Ins	14	842						14	842	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)gtafs	p.V639fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.V623fs|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1915-1917)actfs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159900127_159900128insC	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1916dupG	1.37:g.159900133_159900133dupC	ENSP00000357073:p.Val639fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR	p.T639fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	2112_2113	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	639			Fibronectin type-III 2.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.1915_1916insG	CCDS44254.1																																																																																				0.673	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		18	1169						18	1169	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		30	939						30	939	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159912845	159912846	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159912845_159912846insG	ENST00000368094.1	-	3	351_352	c.154_155insC	c.(154-156)ctgfs	p.L52fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.L52fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	52	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGACATGCAgggggggccgg	0.634																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(154-156)gcafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159912845_159912846insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.155dupC	1.37:g.159912852_159912852dupG	ENSP00000357073:p.Leu52fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.A52fs	p.A52fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	351_352	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	52			Ig-like 1.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.154_155insC	CCDS44254.1																																																																																				0.634	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		8	143						8	143	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(286-288)gggfs	p.G96fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.G96fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	96					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(283-288)ttggggfs		ATPase, Na+/K+ transporting, alpha 2 polypeptide																																				SO:0001589	frameshift_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093110_160093111insG	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.291dupG	1.37:g.160093116_160093116dupG	ENSP00000354490:p.Gly96fs		Somatic				ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs|ATP1A2_ENST00000472488.1_3'UTR	p.LG95fs	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	374_375	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		95					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Frame_Shift_Ins	INS	ENST00000361216.3	37	c.285_286insG	CCDS1196.1																																																																																				0.604	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	1573						10	1573	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161163067	161163068	+	Frame_Shift_Ins	INS	-	-	G	rs142227379		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:161163067_161163068insG	ENST00000367996.5	-	7	2274_2275	c.1846_1847insC	c.(1846-1848)cagfs	p.Q616fs	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	616	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCACTGGTCCTGGGGGGCCACG	0.644																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1846-1848)ggafs		ADAM metallopeptidase with thrombospondin type 1 motif, 4																																				SO:0001589	frameshift_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161163067_161163068insG	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1847dupC	1.37:g.161163073_161163073dupG	ENSP00000356975:p.Gln616fs		Somatic					p.G616fs	NM_005099.4	NP_005090.3	WXS	Illumina GAIIx	Phase_I	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	2274_2275	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		616			Cys-rich.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Frame_Shift_Ins	INS	ENST00000367996.5	37	c.1846_1847insC	CCDS1223.1																																																																																				0.644	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		12	571						12	571	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs		Somatic				ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs	p.F131fs			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		16	494						16	494	---	---	---	---
F5	2153	broad.mit.edu	37	1	169483601	169483602	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:169483601_169483602delTC	ENST00000367797.3	-	25	6825_6826	c.6624_6625delGA	c.(6622-6627)tggaatfs	p.WN2208fs	F5_ENST00000367796.3_Frame_Shift_Del_p.WN2213fs	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2208	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)	ATACTTTGATTCCATGTTTTAG	0.376																																						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.(6637-6642)tgatfs		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169483601_169483602delTC	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.6624_6625delGA	1.37:g.169483601_169483602delTC	ENSP00000356771:p.Trp2208fs		Somatic				F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Frame_Shift_Del_p.WN2208fs	p.WN2213fs			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			25	6840_6841	-	all_hematologic(923;0.208)		2208	A -> T (in Ref. 1; AAA52424).		F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Frame_Shift_Del	DEL	ENST00000367797.3	37	c.6639_6640delGA	CCDS1281.1																																																																																				0.376	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		7	201						7	201	---	---	---	---
F5	2153	broad.mit.edu	37	1	169528487	169528488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:169528487_169528488insG	ENST00000367797.3	-	5	834_835	c.633_634insC	c.(631-636)atcgtgfs	p.V212fs	F5_ENST00000546081.1_Frame_Shift_Ins_p.V75fs|F5_ENST00000367796.3_Frame_Shift_Ins_p.V212fs	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	212	F5/8 type A 1.|Plastocyanin-like 2.				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)	AATAGTAGCACGATTTGCTTGT	0.441																																						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.(631-636)attgctfs		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169528487_169528488insG	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.634dupC	1.37:g.169528488_169528488dupG	ENSP00000356771:p.Val212fs		Somatic				F5_ENST00000367797.3_Frame_Shift_Ins_p.A212fs|F5_ENST00000546081.1_Frame_Shift_Ins_p.A75fs	p.A212fs			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			5	834_835	-	all_hematologic(923;0.208)		212			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Frame_Shift_Ins	INS	ENST00000367797.3	37	c.633_634insC	CCDS1281.1																																																																																				0.441	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		14	597						14	597	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2983-2985)cccfs	p.P995fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {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)		TGACCTGGACGCCCCCCTCTGC	0.505																																						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.(2980-2985)acccccfs		tenascin N																																				SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096158_175096159insC	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.2988dupC	1.37:g.175096164_175096164dupC	ENSP00000239462:p.Pro995fs		Somatic					p.TP994fs	NM_022093.1	NP_071376.1	WXS	Illumina GAIIx	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3095_3096	+		Breast(1374;0.000962)	994			Fibronectin type-III 9.		B9EGP3|Q5R360	Frame_Shift_Ins	INS	ENST00000239462.4	37	c.2982_2983insC	CCDS30943.1																																																																																				0.505	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		11	710						11	710	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs		Somatic				PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			11	425						11	425	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:181549749_181549750insC	ENST00000367573.2	+	6	788_789	c.788_789insC	c.(787-792)gaccccfs	p.DP263fs	CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.DP214fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					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						GAAGGATTTGACCCCCCTCACC	0.505																																						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.(787-789)gccfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749_181549750insC	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.794dupC	1.37:g.181549755_181549755dupC	ENSP00000356545:p.Asp263fs		Somatic				CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs	p.A263fs	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			6	953_954	+			263					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	c.788_789insC	CCDS55664.1																																																																																				0.505	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		16	2425						16	2425	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)accfs	p.T1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 3; CAA71668). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3187-3189)cccfs		DEAH (Asp-Glu-Ala-His) box helicase 9																																				SO:0001589	frameshift_variant	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.chr1:182852697_182852698insC	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.3193dupC	1.37:g.182852703_182852703dupC	ENSP00000356520:p.Thr1063fs		Somatic				DHX9_ENST00000485081.1_3'UTR	p.P1063fs	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			26	3297_3298	+			1063	T -> P (in Ref. 1; AAB48855 and 2; CAA71668).				B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Ins	INS	ENST00000367549.3	37	c.3187_3188insC	CCDS41444.1																																																																																				0.441	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		10	958						10	958	---	---	---	---
NMNAT2	23057	broad.mit.edu	37	1	183255841	183255842	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:183255841_183255842insG	ENST00000287713.6	-	5	737_738	c.403_404insC	c.(403-405)cagfs	p.Q135fs	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Frame_Shift_Ins_p.Q130fs	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	135					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GTAAATGGGCTGGGGGGTCTCG	0.54																																						ENST00000287713.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						c.(403-405)gccfs		nicotinamide nucleotide adenylyltransferase 2																																				SO:0001589	frameshift_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183255841_183255842insG	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.404dupC	1.37:g.183255847_183255847dupG	ENSP00000287713:p.Gln135fs		Somatic				NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Frame_Shift_Ins_p.A130fs	p.A135fs	NM_015039.3	NP_055854.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ4	NMNA2_HUMAN			5	737_738	-			135					O75067|Q5T1Q3|Q8WU99|Q96QW1	Frame_Shift_Ins	INS	ENST00000287713.6	37	c.403_404insC	CCDS1353.1																																																																																				0.540	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			8	1072						8	1072	---	---	---	---
COLGALT2	23127	broad.mit.edu	37	1	183938467	183938468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:183938467_183938468insG	ENST00000361927.4	-	5	1138_1139	c.767_768insC	c.(766-768)ccafs	p.P256fs	COLGALT2_ENST00000546159.1_Frame_Shift_Ins_p.P256fs	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	256					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										AGTCCTGGTGTGGGGGGTAGAA	0.535																																						ENST00000361927.4																			0											c.(766-768)ccafs		collagen beta(1-O)galactosyltransferase 2																																				SO:0001589	frameshift_variant	23127							g.chr1:183938467_183938468insG	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.768dupC	1.37:g.183938473_183938473dupG	ENSP00000354960:p.Pro256fs		Somatic				COLGALT2_ENST00000546159.1_Frame_Shift_Ins_p.P256fs	p.P256fs	NM_015101.2	NP_055916.1	WXS	Illumina GAIIx	Phase_I					5	1138_1139	-								O60327|Q9BZR0	Frame_Shift_Ins	INS	ENST00000361927.4	37	c.767_768insC	CCDS1360.1																																																																																				0.535	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		7	491						7	491	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185191025	185191026	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:185191025_185191026insA	ENST00000367500.4	+	15	2331_2332	c.2166_2167insA	c.(2167-2169)aaafs	p.K723fs	SWT1_ENST00000367501.3_Frame_Shift_Ins_p.K723fs	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	723										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACACAGTGACTAAAAAGCAGGA	0.376																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2164-2169)acaaaafs		SWT1 RNA endoribonuclease homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	54823							g.chr1:185191025_185191026insA	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2171dupA	1.37:g.185191030_185191030dupA	ENSP00000356470:p.Lys723fs		Somatic				SWT1_ENST00000367501.3_Frame_Shift_Ins_p.TK722fs	p.TK722fs	NM_017673.6	NP_060143.4	WXS	Illumina GAIIx	Phase_I	Q5T5J6	SWT1_HUMAN			15	2331_2332	+			722					Q8NEK9|Q9BZQ7|Q9NXQ0	Frame_Shift_Ins	INS	ENST00000367500.4	37	c.2166_2167insA	CCDS1367.1																																																																																				0.376	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		7	326						7	326	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193091457	193091458	+	Frame_Shift_Ins	INS	-	-	G	rs121434263		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:193091457_193091458insG	ENST00000367435.3	+	1	311_312	c.127_128insG	c.(127-129)tggfs	p.W43fs		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	43					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.W43*(3)|p.?(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CTATGTTGTTTGGGGGTAAGTC	0.579											OREG0014058	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367435.3																			4	Substitution - Nonsense(3)|Unknown(1)	p.W43*(3)|p.?(1)	parathyroid(4)	breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(127-129)gggfs		cell division cycle 73																																				SO:0001589	frameshift_variant	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193091457_193091458insG	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.132dupG	1.37:g.193091462_193091462dupG	ENSP00000356405:p.Trp43fs		Somatic	OREG0014058	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2058		p.G43fs	NM_024529.4	NP_078805.3	WXS	Illumina GAIIx	Phase_I	Q6P1J9	CDC73_HUMAN			1	311_312	+			43					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Frame_Shift_Ins	INS	ENST00000367435.3	37	c.127_128insG	CCDS1382.1																																																																																				0.579	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		9	1173						9	1173	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs		Somatic				CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		29	970						29	970	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|MIR1231_ENST00000408101.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs		Somatic				NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs	p.DP1501fs	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		14	966						14	966	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gcgfs	p.A267fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(799-801)gccfs		fibromodulin																																				SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316599_203316600insC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.800dupG	1.37:g.203316605_203316605dupC	ENSP00000347041:p.Ala267fs		Somatic				FMOD_ENST00000464898.1_5'UTR	p.A267fs	NM_002023.4	NP_002014.2	WXS	Illumina GAIIx	Phase_I	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1262_1263	-			267					Q15331|Q8IV47	Frame_Shift_Ins	INS	ENST00000354955.4	37	c.799_800insG	CCDS30976.1																																																																																				0.579	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		14	445						14	445	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs		Somatic				ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		17	385						17	385	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs		Somatic				PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	WXS	Illumina GAIIx	Phase_I	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		41	380						41	380	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205033832	205033833	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:205033832_205033833insCC	ENST00000331830.4	+	12	1757_1758	c.1473_1474insCC	c.(1474-1476)aacfs	p.N492fs	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	492	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTTTGCTGAGAACTTCATGGG	0.54																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1471-1476)gaacttfs		contactin 2 (axonal)																																				SO:0001589	frameshift_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205033832_205033833insCC	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	Exception_encountered	1.37:g.205033832_205033833insCC	ENSP00000330633:p.Asn492fs		Somatic					p.EL491fs	NM_005076.3	NP_005067.1	WXS	Illumina GAIIx	Phase_I	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		12	1757_1758	+	all_cancers(21;0.144)|Breast(84;0.0437)		491			Ig-like C2-type 5.		P78432|Q5T054	Frame_Shift_Ins	INS	ENST00000331830.4	37	c.1473_1474insCC	CCDS1449.1																																																																																				0.540	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		31	852						31	852	---	---	---	---
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)ccafs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1255-1257)cccfs		retinoblastoma binding protein 5																																				SO:0001589	frameshift_variant	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205065949_205065950insG	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1257dupC	1.37:g.205065955_205065955dupG	ENSP00000264515:p.Pro419fs		Somatic				RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	WXS	Illumina GAIIx	Phase_I	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		12	1397_1398	-	Breast(84;0.0505)		419					A8K272|Q7Z6D8|Q8NDZ7	Frame_Shift_Ins	INS	ENST00000264515.6	37	c.1256_1257insC	CCDS30983.1																																																																																				0.505	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		16	781						16	781	---	---	---	---
C4BPB	725	broad.mit.edu	37	1	207263775	207263776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207263775_207263776insT	ENST00000243611.5	+	2	475_476	c.181_182insT	c.(181-183)cttfs	p.L61fs	C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.L60fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.L61fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.L61fs|C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.L51fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						AAAGAAGACCCTTTTTTGCAAT	0.441																																						ENST00000243611.5																			0				breast(2)|lung(1)|ovary(1)	4						c.(181-183)tttfs		complement component 4 binding protein, beta																																				SO:0001589	frameshift_variant	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207263775_207263776insT	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.187dupT	1.37:g.207263781_207263781dupT	ENSP00000243611:p.Leu61fs		Somatic				C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.F61fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.F60fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.F61fs|C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.F51fs	p.F61fs	NM_000716.3	NP_000707.1	WXS	Illumina GAIIx	Phase_I	P20851	C4BPB_HUMAN			2	475_476	+			61			Sushi 1.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Frame_Shift_Ins	INS	ENST00000243611.5	37	c.181_182insT	CCDS1476.1																																																																																				0.441	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		8	626						8	626	---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209782336	209782337	+	Frame_Shift_Ins	INS	-	-	C	rs144298174		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:209782336_209782337insC	ENST00000009105.1	+	8	892_893	c.647_648insC	c.(646-651)taccccfs	p.YP216fs	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.YP216fs			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCTGTGGATACCCCCCATTCT	0.51																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(646-648)tccfs		calcium/calmodulin-dependent protein kinase IG																																				SO:0001589	frameshift_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209782336_209782337insC		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.653dupC	1.37:g.209782342_209782342dupC	ENSP00000009105:p.Tyr216fs		Somatic				CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.S216fs|CAMK1G_ENST00000494990.1_3'UTR	p.S216fs			WXS	Illumina GAIIx	Phase_I	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	8	892_893	+			216			Protein kinase.		Q86UH5|Q9Y3J7	Frame_Shift_Ins	INS	ENST00000009105.1	37	c.647_648insC	CCDS1486.1																																																																																				0.510	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		8	661						8	661	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:209974763_209974764insG	ENST00000367021.3	-	3	170		c.e3-2		IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.e3-2		interferon regulatory factor 6																																				SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974763_209974764insG	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.3-2->C	1.37:g.209974770_209974770dupG		HNSCC(57;0.16)	Somatic				IRF6_ENST00000542854.1_Intron		NM_006147.3	NP_006138.1	WXS	Illumina GAIIx	Phase_I	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	170	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	INS	ENST00000367021.3	37		CCDS1492.1																																																																																				0.594	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Intron	8	220						8	220	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)tccfs	p.S451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1351-1353)cccfs		digestive organ expansion factor homolog (zebrafish)																																				SO:0001589	frameshift_variant	27042				multicellular organismal development	nucleus		g.chr1:210014266_210014267insC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1357dupC	1.37:g.210014272_210014272dupC	ENSP00000419005:p.Ser451fs		Somatic					p.P451fs	NM_014388.6	NP_055203.4	WXS	Illumina GAIIx	Phase_I	Q68CQ4	DIEXF_HUMAN			8	1408_1409	+			451					O75992|Q4VY00|Q63HL9	Frame_Shift_Ins	INS	ENST00000491415.2	37	c.1351_1352insC	CCDS1493.1																																																																																				0.465	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		9	668						9	668	---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212799035	212799036	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:212799035_212799036insG	ENST00000294829.3	+	1	1247_1248	c.816_817insG	c.(817-819)gggfs	p.G273fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	273						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCCAGCAACAGGGGGGATTAA	0.559																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(814-819)acggggfs		family with sequence similarity 71, member A																																				SO:0001589	frameshift_variant	149647							g.chr1:212799035_212799036insG		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.822dupG	1.37:g.212799041_212799041dupG	ENSP00000294829:p.Gly273fs		Somatic				RP11-338C15.5_ENST00000427949.1_RNA	p.TG272fs	NM_153606.3	NP_705834.2	WXS	Illumina GAIIx	Phase_I	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1247_1248	+			272					Q5VTZ1	Frame_Shift_Ins	INS	ENST00000294829.3	37	c.816_817insG	CCDS1507.1																																																																																				0.559	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		8	349						8	349	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557490	214557491	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:214557490_214557491insG	ENST00000366956.5	-	13	1901_1902	c.1707_1708insC	c.(1705-1710)ccctacfs	p.Y570fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	570	Poly-Pro.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCCGTGGGTAGGGGGGCGGTG	0.653																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1705-1710)ccacccfs		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001589	frameshift_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557490_214557491insG	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1708dupC	1.37:g.214557496_214557496dupG	ENSP00000355923:p.Tyr570fs		Somatic				PTPN14_ENST00000543945.1_3'UTR	p.P570fs	NM_005401.4	NP_005392.2	WXS	Illumina GAIIx	Phase_I	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1901_1902	-			570			Poly-Pro.		Q5VSI0	Frame_Shift_Ins	INS	ENST00000366956.5	37	c.1707_1708insC	CCDS1514.1																																																																																				0.653	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	281						7	281	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226568817	226568818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:226568817_226568818insC	ENST00000366794.5	-	9	1394_1395	c.1251_1252insG	c.(1249-1254)gggaagfs	p.K418fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	418	Automodification domain.|BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCCGTCAACTTCCCCCCGAGTT	0.485								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1249-1254)ggagttfs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1																																				SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226568817_226568818insC	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1252dupG	1.37:g.226568823_226568823dupC	ENSP00000355759:p.Lys418fs		Somatic					p.V418fs	NM_001618.3	NP_001609.2	WXS	Illumina GAIIx	Phase_I	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	9	1394_1395	-	Breast(184;0.133)		418			Automodification domain.|BRCT.		B1ANJ4|Q8IUZ9	Frame_Shift_Ins	INS	ENST00000366794.5	37	c.1251_1252insG	CCDS1554.1																																																																																				0.485	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		8	443						8	443	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227300374	227300375	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:227300374_227300375insT	ENST00000366769.3	-	13	3178_3179	c.1887_1888insA	c.(1885-1890)aaagagfs	p.E630fs	CDC42BPA_ENST00000366764.2_Frame_Shift_Ins_p.E630fs|CDC42BPA_ENST00000535525.1_Frame_Shift_Ins_p.E630fs|CDC42BPA_ENST00000334218.5_Frame_Shift_Ins_p.E630fs|CDC42BPA_ENST00000366766.2_Frame_Shift_Ins_p.E630fs|CDC42BPA_ENST00000366765.3_Frame_Shift_Ins_p.E630fs|CDC42BPA_ENST00000366767.3_Intron	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTACTAACCTCTTTTTTGGCTC	0.371																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(1885-1890)aaagctfs		CDC42 binding protein kinase alpha (DMPK-like)																																				SO:0001589	frameshift_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227300374_227300375insT	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1888dupA	1.37:g.227300380_227300380dupT	ENSP00000355731:p.Glu630fs		Somatic				CDC42BPA_ENST00000334218.5_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366765.3_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366764.2_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366766.2_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000535525.1_Frame_Shift_Ins_p.A630fs	p.A630fs	NM_003607.3	NP_003598.2	WXS	Illumina GAIIx	Phase_I	Q5VT25	MRCKA_HUMAN			13	3178_3179	-		all_cancers(173;0.156)|Prostate(94;0.0792)	630						Frame_Shift_Ins	INS	ENST00000366769.3	37	c.1887_1888insA	CCDS1558.1																																																																																				0.371	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		7	386						7	386	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)ccafs	p.P274fs	TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.P274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.P274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cacfs		tripartite motif containing 17																																				SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596934_228596935insG	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.822dupC	1.37:g.228596941_228596941dupG	ENSP00000355658:p.Pro274fs		Somatic				TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs	p.H274fs			WXS	Illumina GAIIx	Phase_I	Q9Y577	TRI17_HUMAN			5	1777_1778	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.821_822insC	CCDS1571.1																																																																																				0.579	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		21	263						21	263	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs		Somatic				ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		13	394						13	394	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs		Somatic				SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		12	840						12	840	---	---	---	---
MAP10	54627	broad.mit.edu	37	1	232940911	232940912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:232940911_232940912insA	ENST00000418460.1	+	1	269_270	c.142_143insA	c.(142-144)caafs	p.Q48fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AACCATTACCCAAAAAACTCAC	0.371																																						ENST00000418460.1																			0											c.(142-144)aaafs		microtubule-associated protein 10																																				SO:0001589	frameshift_variant	54627							g.chr1:232940911_232940912insA	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.148dupA	1.37:g.232940917_232940917dupA	ENSP00000403208:p.Gln48fs		Somatic					p.K48fs	NM_019090.2	NP_061963.2	WXS	Illumina GAIIx	Phase_I					1	269_270	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Ins	INS	ENST00000418460.1	37	c.142_143insA	CCDS44334.1																																																																																				0.371	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		13	877						13	877	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T	rs537841535		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aaacgcfs	p.R1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3469-3474)aagctafs		TAR (HIV-1) RNA binding protein 1																																				SO:0001589	frameshift_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556531_234556532insT		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3472dupA	1.37:g.234556537_234556537dupT	ENSP00000040877:p.Arg1158fs		Somatic					p.L1158fs	NM_005646.3	NP_005637.3	WXS	Illumina GAIIx	Phase_I	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3470_3471	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1158					Q9H581	Frame_Shift_Ins	INS	ENST00000040877.1	37	c.3471_3472insA	CCDS1601.1																																																																																				0.366	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		7	319						7	319	---	---	---	---
RBM34	23029	broad.mit.edu	37	1	235323946	235323947	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:235323946_235323947insT	ENST00000408888.3	-	3	474_475	c.244_245insA	c.(244-246)acgfs	p.T82fs	RBM34_ENST00000366606.3_Frame_Shift_Ins_p.T77fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	82						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTCCGTTTCGTTTTTTTGATG	0.371																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(244-246)gaafs		RNA binding motif protein 34																																				SO:0001589	frameshift_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235323946_235323947insT		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.245dupA	1.37:g.235323953_235323953dupT	ENSP00000386226:p.Thr82fs		Somatic				RBM34_ENST00000366606.3_Frame_Shift_Ins_p.E77fs	p.E82fs			WXS	Illumina GAIIx	Phase_I	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		3	474_475	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	82					A8K8J7|Q8N2Z8|Q9H5A1	Frame_Shift_Ins	INS	ENST00000408888.3	37	c.244_245insA	CCDS41477.2																																																																																				0.371	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		10	358						10	358	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236718038	236718039	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:236718038_236718039insA	ENST00000366582.3	-	42	6051_6052	c.5937_5938insT	c.(5935-5940)tttgacfs	p.D1980fs	HEATR1_ENST00000366581.2_Frame_Shift_Ins_p.D1899fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1980					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTTCAGAGTCAAAAAATGCTT	0.307																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5935-5940)ttactcfs		HEAT repeat containing 1																																				SO:0001589	frameshift_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236718038_236718039insA	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5938dupT	1.37:g.236718044_236718044dupA	ENSP00000355541:p.Asp1980fs		Somatic				HEATR1_ENST00000366581.2_Frame_Shift_Ins_p.LL1898fs	p.LL1979fs	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		42	6051_6052	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1979					Q5T3Q8|Q6P197|Q9NW23	Frame_Shift_Ins	INS	ENST00000366582.3	37	c.5937_5938insT	CCDS31066.1																																																																																				0.307	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		10	817						10	817	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039439	248039440	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:248039439_248039440insG	ENST00000366481.3	+	6	1157_1158	c.1109_1110insG	c.(1108-1113)aaggggfs	p.KG370fs	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	370	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K370R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCCAAGAAAGGGGGAAACCA	0.564																																						ENST00000366481.3																			1	Substitution - Missense(1)	p.K370R(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(1108-1110)aggfs		tripartite motif containing 58																																				SO:0001589	frameshift_variant	25893					intracellular	zinc ion binding	g.chr1:248039439_248039440insG	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1114dupG	1.37:g.248039444_248039444dupG	ENSP00000355437:p.Lys370fs		Somatic				OR2W3_ENST00000537741.1_Intron	p.R370fs	NM_015431.3	NP_056246.3	WXS	Illumina GAIIx	Phase_I	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1157_1158	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	370			B30.2/SPRY.		Q6B0H9	Frame_Shift_Ins	INS	ENST00000366481.3	37	c.1109_1110insG	CCDS1636.1																																																																																				0.564	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		10	1194						10	1194	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637291	248637292	+	Frame_Shift_Ins	INS	-	-	C	rs1770109	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:248637291_248637292insC	ENST00000359594.2	+	1	665_666	c.640_641insC	c.(640-642)gccfs	p.A214fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A214T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGCTTCTCGCCCCCATCATG	0.559																																						ENST00000359594.2																			1	Substitution - Missense(1)	p.A214T(1)	skin(1)	breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(640-642)cccfs		olfactory receptor, family 2, subfamily T, member 3																																				SO:0001589	frameshift_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637291_248637292insC		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.645dupC	1.37:g.248637296_248637296dupC	ENSP00000352604:p.Ala214fs		Somatic					p.P214fs	NM_001005495.1	NP_001005495.1	WXS	Illumina GAIIx	Phase_I	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	665_666	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		214					B2RNJ1	Frame_Shift_Ins	INS	ENST00000359594.2	37	c.640_641insC	CCDS31117.1																																																																																				0.559	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		7	585						7	585	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1507747	1507748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:1507747_1507748insC	ENST00000345913.4	+	14	2505_2506	c.2414_2415insC	c.(2413-2418)caccccfs	p.HP805fs	TPO_ENST00000329066.4_Frame_Shift_Ins_p.HP805fs|TPO_ENST00000382201.3_Frame_Shift_Ins_p.HP748fs|TPO_ENST00000346956.3_Intron|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Frame_Shift_Ins_p.HP632fs|TPO_ENST00000337415.3_Frame_Shift_Ins_p.HP805fs|TPO_ENST00000349624.3_Frame_Shift_Ins_p.HP632fs	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	805	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.H805L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGCC	0.644																																						ENST00000345913.4																			1	Substitution - Missense(1)	p.H805L(1)	ovary(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2413-2415)cccfs		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)																																			SO:0001589	frameshift_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1507747_1507748insC		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2421dupC	2.37:g.1507754_1507754dupC	ENSP00000318820:p.His805fs		Somatic				TPO_ENST00000337415.3_Frame_Shift_Ins_p.P805fs|TPO_ENST00000349624.3_Frame_Shift_Ins_p.P632fs|TPO_ENST00000382201.3_Frame_Shift_Ins_p.P748fs|TPO_ENST00000346956.3_Intron|TPO_ENST00000329066.4_Frame_Shift_Ins_p.P805fs|TPO_ENST00000382198.1_Frame_Shift_Ins_p.P632fs|TPO_ENST00000497517.2_3'UTR	p.P805fs	NM_000547.5	NP_000538.3	WXS	Illumina GAIIx	Phase_I	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	14	2505_2506	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	805			EGF-like; calcium-binding (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Frame_Shift_Ins	INS	ENST00000345913.4	37	c.2414_2415insC	CCDS1643.1																																																																																				0.644	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		7	224						7	224	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1652959	1652960	+	Frame_Shift_Ins	INS	-	-	G	rs552146038	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:1652959_1652960insG	ENST00000252804.4	-	17	2642_2643	c.2592_2593insC	c.(2590-2595)cccaatfs	p.N865fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	865					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGGAGTCATTGGGGGGGATCA	0.653																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2590-2595)ccatgafs		peroxidasin homolog (Drosophila)																																				SO:0001589	frameshift_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652959_1652960insG	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2593dupC	2.37:g.1652966_1652966dupG	ENSP00000252804:p.Asn865fs		Somatic					p.*865fs	NM_012293.1	NP_036425.1	WXS	Illumina GAIIx	Phase_I	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2642_2643	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	865					A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Ins	INS	ENST00000252804.4	37	c.2592_2593insC	CCDS46221.1																																																																																				0.653	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		8	84						8	84	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9528642	9528643	+	Frame_Shift_Ins	INS	-	-	C	rs376816649		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:9528642_9528643insC	ENST00000281419.3	+	22	2690_2691	c.2350_2351insC	c.(2350-2352)gccfs	p.A784fs	ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.A784fs|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	784	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CACCACCAGCGCCCCCCCGCTT	0.579																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2350-2352)cccfs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2			,	9,4257		0,9,2124					,	5.6	1.0			28	12,8240		0,12,4114	no	frameshift,frameshift	ASAP2	NM_003887.2,NM_001135191.1	,	0,21,6238	A1A1,A1R,RR		0.1454,0.211,0.1678	,	,		21,12497				SO:0001589	frameshift_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528642_9528643insC	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2357dupC	2.37:g.9528649_9528649dupC	ENSP00000281419:p.Ala784fs		Somatic				ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.P784fs	p.P784fs	NM_003887.2	NP_003878.1	WXS	Illumina GAIIx	Phase_I	O43150	ASAP2_HUMAN			22	2690_2691	+			784			Pro-rich.		D6W4Y8	Frame_Shift_Ins	INS	ENST00000281419.3	37	c.2350_2351insC	CCDS1661.1																																																																																				0.579	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		7	72						7	72	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11738052	11738053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:11738052_11738053insC	ENST00000381486.2	+	14	2400_2401	c.2100_2101insC	c.(2101-2103)cccfs	p.P701fs	GREB1_ENST00000234142.5_Frame_Shift_Ins_p.P701fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	701						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATTTGCATTCCCCCCTCAGA	0.52																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2098-2103)atccccfs		growth regulation by estrogen in breast cancer 1																																				SO:0001589	frameshift_variant	9687					integral to membrane		g.chr2:11738052_11738053insC		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2106dupC	2.37:g.11738058_11738058dupC	ENSP00000370896:p.Pro701fs		Somatic				GREB1_ENST00000234142.5_Frame_Shift_Ins_p.IP700fs	p.IP700fs	NM_014668.3	NP_055483.2	WXS	Illumina GAIIx	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	14	2400_2401	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		700					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Frame_Shift_Ins	INS	ENST00000381486.2	37	c.2100_2101insC	CCDS42655.1																																																																																				0.520	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		9	439						9	439	---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12863619	12863620	+	Frame_Shift_Ins	INS	-	-	G	rs542940298		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:12863619_12863620insG	ENST00000405331.3	+	2	574_575	c.504_505insG	c.(505-507)gggfs	p.G169fs	TRIB2_ENST00000155926.4_Frame_Shift_Ins_p.G169fs|TRIB2_ENST00000381465.2_Frame_Shift_Ins_p.G33fs					tribbles pseudokinase 2									p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGGT	0.579																																						ENST00000155926.4																			1	Substitution - coding silent(1)	p.D168D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(502-507)gaggggfs		tribbles pseudokinase 2																																				SO:0001589	frameshift_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863619_12863620insG	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.510dupG	2.37:g.12863625_12863625dupG	ENSP00000384260:p.Gly169fs		Somatic				TRIB2_ENST00000405331.3_Frame_Shift_Ins_p.EG168fs|TRIB2_ENST00000381465.2_Frame_Shift_Ins_p.EG32fs	p.EG168fs	NM_021643.3	NP_067675.1	WXS	Illumina GAIIx	Phase_I	Q92519	TRIB2_HUMAN			2	1923_1924	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		168			Protein kinase.			Frame_Shift_Ins	INS	ENST00000405331.3	37	c.504_505insG																																																																																					0.579	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		8	471						8	471	---	---	---	---
TP53I3	9540	broad.mit.edu	37	2	24303725	24303726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:24303725_24303726insT	ENST00000238721.4	-	3	1436_1437	c.582_583insA	c.(580-585)aaagagfs	p.E195fs	TP53I3_ENST00000335934.4_Frame_Shift_Ins_p.E195fs|TP53I3_ENST00000313482.4_Frame_Shift_Ins_p.E195fs|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Frame_Shift_Ins_p.E195fs|TP53I3_ENST00000417886.1_5'UTR	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	195					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAAATCCTCTTTTTTGTAAT	0.446																																						ENST00000238721.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12						c.(580-585)aaaggafs		tumor protein p53 inducible protein 3																																				SO:0001589	frameshift_variant	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24303725_24303726insT	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.583dupA	2.37:g.24303731_24303731dupT	ENSP00000238721:p.Glu195fs		Somatic				TP53I3_ENST00000417886.1_5'UTR|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Frame_Shift_Ins_p.G195fs|TP53I3_ENST00000407482.1_Frame_Shift_Ins_p.G195fs|TP53I3_ENST00000335934.4_Frame_Shift_Ins_p.G195fs	p.G195fs	NM_004881.4	NP_004872.2	WXS	Illumina GAIIx	Phase_I	Q53FA7	QORX_HUMAN			3	1436_1437	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Frame_Shift_Ins	INS	ENST00000238721.4	37	c.582_583insA	CCDS1708.1																																																																																				0.446	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		8	1089						8	1089	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.176_177insC	c.(175-177)ccg>ccCg	p.P59fs	DNMT3A_ENST00000406659.3_Splice_Site_p.P59fs|DNMT3A_ENST00000321117.5_Splice_Site_p.P59fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.e3+1		DNA (cytosine-5-)-methyltransferase 3 alpha																																				SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25523008_25523009insG		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.177+1->C	2.37:g.25523014_25523014dupG			Somatic				DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice	p.R59_splice	NM_175629.2	NP_783328.1	WXS	Illumina GAIIx	Phase_I	Q9Y6K1	DNM3A_HUMAN			3	513_514	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	INS	ENST00000264709.3	37	c.177_splice	CCDS33157.1																																																																																				0.649	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Frame_Shift_Ins	25	959						25	959	---	---	---	---
DTNB	1838	broad.mit.edu	37	2	25754395	25754396	+	Frame_Shift_Ins	INS	-	-	G	rs143218564	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:25754395_25754396insG	ENST00000406818.3	-	9	1196_1197	c.947_948insC	c.(946-948)ccgfs	p.P316fs	DTNB_ENST00000545439.1_Frame_Shift_Ins_p.P112fs|DTNB_ENST00000407038.3_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000496972.2_Frame_Shift_Ins_p.P259fs|DTNB_ENST00000407661.3_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000405222.1_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000404103.3_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000407186.1_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000288642.8_Frame_Shift_Ins_p.P316fs	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	316						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACAGGATGCGGGGGTTCTCT	0.455																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(946-948)ccafs		dystrobrevin, beta																																				SO:0001589	frameshift_variant	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25754395_25754396insG	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.948dupC	2.37:g.25754400_25754400dupG	ENSP00000384084:p.Pro316fs		Somatic				DTNB_ENST00000405222.1_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000407186.1_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000496972.2_Frame_Shift_Ins_p.P259fs|DTNB_ENST00000545439.1_Frame_Shift_Ins_p.P112fs|DTNB_ENST00000407038.3_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000404103.3_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000288642.8_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000407661.3_Frame_Shift_Ins_p.P316fs	p.P316fs	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	WXS	Illumina GAIIx	Phase_I	O60941	DTNB_HUMAN			9	1196_1197	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		316					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Frame_Shift_Ins	INS	ENST00000406818.3	37	c.947_948insC	CCDS46237.1																																																																																				0.455	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		7	637						7	637	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27292516	27292517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27292516_27292517insC	ENST00000360131.4	+	14	2590_2591	c.2431_2432insC	c.(2431-2433)accfs	p.T811fs		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	811					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATCCCCTACCCCCCGGACC	0.644																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(2431-2433)cccfs		ATP/GTP binding protein-like 5																																				SO:0001589	frameshift_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27292516_27292517insC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2437dupC	2.37:g.27292522_27292522dupC	ENSP00000353249:p.Thr811fs		Somatic					p.P811fs	NM_021831.5	NP_068603.4	WXS	Illumina GAIIx	Phase_I	Q8NDL9	CBPC5_HUMAN			14	2590_2591	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		811					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Frame_Shift_Ins	INS	ENST00000360131.4	37	c.2431_2432insC	CCDS1732.3																																																																																				0.644	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		10	384						10	384	---	---	---	---
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27456981_27456982insC	ENST00000403525.1	+	21	3460_3461	c.3316_3317insC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Ins_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGCTGGTGACCCCCCCACAA	0.574																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3505-3507)cccfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456981_27456982insC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3323dupC	2.37:g.27456988_27456988dupC	ENSP00000384510:p.Thr1106fs		Somatic				CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	p.P1169fs	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	P27708	PYR1_HUMAN			22	3667_3668	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1169			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	ENST00000403525.1	37	c.3505_3506insC																																																																																					0.574	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			16	280						16	280	---	---	---	---
CAD	790	broad.mit.edu	37	2	27460371	27460372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27460371_27460372insC	ENST00000403525.1	+	27	4476_4477	c.4332_4333insC	c.(4333-4335)cccfs	p.P1445fs	CAD_ENST00000264705.4_Frame_Shift_Ins_p.P1508fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAATACCCGGCCCCCCATCAT	0.614																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4519-4524)cgccccfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27460371_27460372insC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4338dupC	2.37:g.27460377_27460377dupC	ENSP00000384510:p.Pro1445fs		Somatic				CAD_ENST00000403525.1_Frame_Shift_Ins_p.RP1444fs	p.RP1507fs	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	P27708	PYR1_HUMAN			28	4683_4684	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1507			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	ENST00000403525.1	37	c.4521_4522insC																																																																																					0.614	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	218						7	218	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27479379	27479380	+	Frame_Shift_Ins	INS	-	-	G	rs146572471	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27479379_27479380insG	ENST00000233535.4	-	7	1244_1245	c.892_893insC	c.(892-894)cgcfs	p.R298fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.R293fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	298					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.R298H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACATTGCGGGGGGTACCT	0.604																																						ENST00000233535.4																			1	Substitution - Missense(1)	p.R298H(1)	pancreas(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(892-894)caafs		solute carrier family 30 (zinc transporter), member 3																																				SO:0001589	frameshift_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479379_27479380insG	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.893dupC	2.37:g.27479385_27479385dupG	ENSP00000233535:p.Arg298fs		Somatic				SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q293fs	p.Q298fs	NM_003459.4	NP_003450.2	WXS	Illumina GAIIx	Phase_I	Q99726	ZNT3_HUMAN			7	1244_1245	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		298					Q8TC03	Frame_Shift_Ins	INS	ENST00000233535.4	37	c.892_893insC	CCDS1743.1																																																																																				0.604	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			20	711						20	711	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27549709	27549710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27549709_27549710insC	ENST00000359541.2	-	19	2997_2998	c.2568_2569insG	c.(2566-2571)gggcagfs	p.Q857fs	GTF3C2_ENST00000264720.3_Frame_Shift_Ins_p.Q857fs|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	857					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCCTGACTGCCCCCCAGATA	0.535																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(2566-2571)ggagtcfs		general transcription factor IIIC, polypeptide 2, beta 110kDa																																				SO:0001589	frameshift_variant	2976					transcription factor TFIIIC complex		g.chr2:27549709_27549710insC	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2569dupG	2.37:g.27549715_27549715dupC	ENSP00000352536:p.Gln857fs		Somatic				GTF3C2_ENST00000264720.3_Frame_Shift_Ins_p.V857fs	p.V857fs			WXS	Illumina GAIIx	Phase_I	Q8WUA4	TF3C2_HUMAN			19	2997_2998	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		857					D6W557|Q16632|Q9BWI7	Frame_Shift_Ins	INS	ENST00000359541.2	37	c.2568_2569insG	CCDS1749.1																																																																																				0.535	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			7	280						7	280	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31572969	31572970	+	Frame_Shift_Ins	INS	-	-	C	rs369230654		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:31572969_31572970insC	ENST00000379416.3	-	25	2799_2800	c.2751_2752insG	c.(2749-2754)gggcccfs	p.P918fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	918					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.G917G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ATCCCCTGGGGCCCCCCAAAGC	0.569																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			1	Substitution - coding silent(1)	p.G917G(1)	lung(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2749-2754)ggcccafs		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31572969_31572970insC	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2752dupG	2.37:g.31572975_31572975dupC	ENSP00000368727:p.Pro918fs		Somatic					p.GP917fs	NM_000379.3	NP_000370.2	WXS	Illumina GAIIx	Phase_I	P47989	XDH_HUMAN			25	2799_2800	-	Acute lymphoblastic leukemia(172;0.155)		917					Q16681|Q16712|Q4PJ16	Frame_Shift_Ins	INS	ENST00000379416.3	37	c.2751_2752insG	CCDS1775.1																																																																																				0.569	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		8	632						8	632	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36764627	36764628	+	Frame_Shift_Ins	INS	-	-	C	rs200640425		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:36764627_36764628insC	ENST00000280527.2	+	14	2928_2929	c.2561_2562insC	c.(2560-2565)tgccccfs	p.CP854fs	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	854	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACCGTCAGCTGCCCCCCTCTGC	0.584																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2560-2562)tccfs		cysteine rich transmembrane BMP regulator 1 (chordin-like)																																				SO:0001589	frameshift_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36764627_36764628insC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2567dupC	2.37:g.36764633_36764633dupC	ENSP00000280527:p.Cys854fs		Somatic				AC007401.2_ENST00000406220.1_Intron	p.S854fs	NM_016441.2	NP_057525.1	WXS	Illumina GAIIx	Phase_I	Q9NZV1	CRIM1_HUMAN			14	2928_2929	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	854			VWFC 6.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Frame_Shift_Ins	INS	ENST00000280527.2	37	c.2561_2562insC	CCDS1783.1																																																																																				0.584	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		7	122						7	122	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:40366704_40366705insG	ENST00000403092.1	-	10	2414_2415	c.2381_2382insC	c.(2380-2382)cctfs	p.P794fs	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000406785.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.P786fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.P794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.P758fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2272-2274)cacfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)																																			SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366704_40366705insG		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2382dupC	2.37:g.40366710_40366710dupG	ENSP00000384763:p.Pro794fs		Somatic				SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000435515.1_RNA	p.H758fs			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			7	2462_2463	-			794					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Ins	INS	ENST00000403092.1	37	c.2273_2274insC	CCDS1806.1																																																																																				0.515	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		14	1007						14	1007	---	---	---	---
SIX3	6496	broad.mit.edu	37	2	45169256	45169257	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:45169256_45169257insC	ENST00000260653.3	+	1	355_356	c.13_14insC	c.(13-15)tccfs	p.S5fs	RP11-89K21.1_ENST00000437916.2_lincRNA|SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	5					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTATTCCGCTCCCCCCTAGAC	0.584																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(13-15)cccfs		SIX homeobox 3																																				SO:0001589	frameshift_variant	6496				visual perception	nucleus		g.chr2:45169256_45169257insC	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.19dupC	2.37:g.45169262_45169262dupC	ENSP00000260653:p.Ser5fs		Somatic					p.P5fs	NM_005413.3	NP_005404.1	WXS	Illumina GAIIx	Phase_I	O95343	SIX3_HUMAN			1	355_356	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	5					D6W5A5|Q53T42	Frame_Shift_Ins	INS	ENST00000260653.3	37	c.13_14insC	CCDS1821.1																																																																																				0.584	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		11	752						11	752	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56420367	56420368	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:56420367_56420368insG	ENST00000407595.2	+	2	1534_1535	c.1032_1033insG	c.(1033-1035)gggfs	p.G345fs	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	345	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACACGCTCTTGGGGGGAGCCT	0.624																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1030-1035)ctggggfs		coiled-coil domain containing 85A																																				SO:0001589	frameshift_variant	114800							g.chr2:56420367_56420368insG	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1038dupG	2.37:g.56420373_56420373dupG	ENSP00000384040:p.Gly345fs		Somatic				RP11-482H16.1_ENST00000607540.1_RNA	p.LG344fs	NM_001080433.1	NP_001073902.1	WXS	Illumina GAIIx	Phase_I	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1534_1535	+			344			His-rich.			Frame_Shift_Ins	INS	ENST00000407595.2	37	c.1032_1033insG	CCDS46290.1																																																																																				0.624	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			11	252						11	252	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688968	60688969	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:60688968_60688969insG	ENST00000335712.6	-	4	1305_1306	c.1078_1079insC	c.(1078-1080)ctcfs	p.L360fs	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.L360fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.L326fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.L326fs|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	360	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAGAGGAGGGAGGGGGGGCGTC	0.634			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1078-1080)cccfs		B-cell CLL/lymphoma 11A (zinc finger protein)																																				SO:0001589	frameshift_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688968_60688969insG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1079dupC	2.37:g.60688975_60688975dupG	ENSP00000338774:p.Leu360fs		Somatic				BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.P360fs|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.P326fs|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.P326fs	p.P360fs	NM_022893.3	NP_075044.2	WXS	Illumina GAIIx	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1305_1306	-			360			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Frame_Shift_Ins	INS	ENST00000335712.6	37	c.1078_1079insC	CCDS1862.1																																																																																				0.634	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		21	484						21	484	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs		Somatic					p.P442fs	NM_032208.2	NP_115584.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		16	693						16	693	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868515	73868516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:73868515_73868516insT	ENST00000272425.3	-	2	389_390	c.240_241insA	c.(238-243)aaacccfs	p.P81fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCCGTCCAGGGTTTTTTGGCAA	0.564																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(238-243)aacctgfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868515_73868516insT	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.241dupA	2.37:g.73868521_73868521dupT	ENSP00000272425:p.Pro81fs		Somatic					p.NL80fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	WXS	Illumina GAIIx	Phase_I	Q9UHE5	NAT8_HUMAN			2	389_390	-			80			N-acetyltransferase.			Frame_Shift_Ins	INS	ENST00000272425.3	37	c.240_241insA	CCDS1926.1																																																																																				0.564	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		12	985						12	985	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868608	73868609	+	Frame_Shift_Ins	INS	-	-	C	rs201919330	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:73868608_73868609insC	ENST00000272425.3	-	2	296_297	c.147_148insG	c.(145-150)gggcccfs	p.P50fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGGCGAGGGGCCCCCCAAGTA	0.614																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(145-150)ggccctfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868608_73868609insC	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.148dupG	2.37:g.73868614_73868614dupC	ENSP00000272425:p.Pro50fs		Somatic					p.GP49fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	WXS	Illumina GAIIx	Phase_I	Q9UHE5	NAT8_HUMAN			2	296_297	-			49						Frame_Shift_Ins	INS	ENST00000272425.3	37	c.147_148insG	CCDS1926.1																																																																																				0.614	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		8	698						8	698	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74329151	74329152	+	Frame_Shift_Ins	INS	-	-	G	rs190925009	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:74329151_74329152insG	ENST00000409262.3	+	9	4831_4832	c.4831_4832insG	c.(4831-4833)tggfs	p.W1611fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1611					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCGCAAGTGGGGGGGCACT	0.688																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4831-4833)gggfs		tet methylcytosine dioxygenase 3				17,3831		0,17,1907						5.2	1.0			13	13,7927		0,13,3957	no	frameshift	TET3	NM_144993.1		0,30,5864	A1A1,A1R,RR		0.1637,0.4418,0.2545				30,11758				SO:0001589	frameshift_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74329151_74329152insG		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4838dupG	2.37:g.74329158_74329158dupG	ENSP00000386869:p.Trp1611fs		Somatic					p.G1611fs	NM_144993.1	NP_659430.1	WXS	Illumina GAIIx	Phase_I	O43151	TET3_HUMAN			9	4831_4832	+			1611					A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Ins	INS	ENST00000409262.3	37	c.4831_4832insG	CCDS46339.1																																																																																				0.688	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			16	141						16	141	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1245)ccagaafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480126_74480127insG	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1243dupC	2.37:g.74480132_74480132dupG	ENSP00000366861:p.Lys415fs		Somatic				SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs	p.E415fs	NM_133478.2	NP_597812.1	WXS	Illumina GAIIx	Phase_I	Q9BY07	S4A5_HUMAN			15	1639_1640	-			415						Frame_Shift_Ins	INS	ENST00000377634.4	37	c.1242_1243insC	CCDS1936.1																																																																																				0.475	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			9	458						9	458	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs		Somatic				DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000495643.1_5'UTR	p.Q919fs	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		9	861						9	861	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001					ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(646-648)cccfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs		Somatic				WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000494741.1_3'UTR	p.P216fs			WXS	Illumina GAIIx	Phase_I	Q96G27	WBP1_HUMAN			5	849_850	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.646_647insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		10	170						10	170	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(961-963)gggfs	p.G321fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G293fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(958-963)ttggggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104377_75104378insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.966dupG	2.37:g.75104383_75104383dupG	ENSP00000290573:p.Gly321fs		Somatic				HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	p.LG320fs	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			8	1560_1561	+			320			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.960_961insG	CCDS1956.1																																																																																				0.545	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		8	1251						8	1251	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75113706	75113707	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:75113706_75113707insG	ENST00000290573.2	+	15	2725_2726	c.2125_2126insG	c.(2125-2127)tggfs	p.W709fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.W681fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	709	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAACATGGAATGGGGGGCCTTC	0.564																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2125-2127)gggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113706_75113707insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2131dupG	2.37:g.75113712_75113712dupG	ENSP00000290573:p.Trp709fs		Somatic				HK2_ENST00000409174.1_Frame_Shift_Ins_p.G681fs	p.G709fs	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			15	2725_2726	+			709			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.2125_2126insG	CCDS1956.1																																																																																				0.564	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		8	527						8	527	---	---	---	---
KCMF1	56888	broad.mit.edu	37	2	85280407	85280408	+	Frame_Shift_Ins	INS	-	-	G	rs375040118		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85280407_85280408insG	ENST00000409785.4	+	7	1380_1381	c.1021_1022insG	c.(1021-1023)cggfs	p.R341fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	341							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TGAGGATGATCGGGGGGAGATG	0.45																																						ENST00000409785.3																			0				ovary(3)	3						c.(1021-1023)gggfs		potassium channel modulatory factor 1																																				SO:0001589	frameshift_variant	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85280407_85280408insG	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.1027dupG	2.37:g.85280413_85280413dupG	ENSP00000386738:p.Arg341fs		Somatic					p.G341fs	NM_020122.4	NP_064507.3	WXS	Illumina GAIIx	Phase_I	Q9P0J7	KCMF1_HUMAN			7	1380_1381	+			341					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Frame_Shift_Ins	INS	ENST00000409785.4	37	c.1021_1022insG	CCDS46350.1																																																																																				0.450	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		8	205						8	205	---	---	---	---
RETSAT	54884	broad.mit.edu	37	2	85578846	85578847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85578846_85578847insC	ENST00000295802.4	-	2	423_424	c.311_312insG	c.(310-312)ggcfs	p.G104fs	RETSAT_ENST00000263854.6_Frame_Shift_Ins_p.G104fs|ELMOD3_ENST00000409890.2_5'Flank|RETSAT_ENST00000457495.2_Intron|ELMOD3_ENST00000409013.3_5'Flank	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	104					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TATGACAGCAGCCCCCTGCCTT	0.525																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(310-312)gtgfs		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85578846_85578847insC	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.312dupG	2.37:g.85578851_85578851dupC	ENSP00000295802:p.Gly104fs		Somatic				RETSAT_ENST00000263854.6_Frame_Shift_Ins_p.V104fs|RETSAT_ENST00000457495.2_Intron	p.V104fs	NM_017750.3	NP_060220.3	WXS	Illumina GAIIx	Phase_I	Q6NUM9	RETST_HUMAN			2	423_424	-			104					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Frame_Shift_Ins	INS	ENST00000295802.4	37	c.311_312insG	CCDS1972.1																																																																																				0.525	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		8	2912						8	2912	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1005)ctggggfs	p.LG334fs	USP39_ENST00000409025.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.LG231fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.LG334fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1000-1002)cggfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863227_85863228insG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1007dupG	2.37:g.85863233_85863233dupG	ENSP00000312981:p.Leu334fs		Somatic				USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs	p.R334fs	NM_006590.3	NP_006581.2	WXS	Illumina GAIIx	Phase_I	Q53GS9	SNUT2_HUMAN			7	1011_1012	+			334					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1001_1002insG	CCDS33234.1																																																																																				0.416	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		14	662						14	662	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)gccfs	p.A398fs	USP39_ENST00000409025.1_Frame_Shift_Ins_p.A398fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.A398fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.A295fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.A398fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTTCCTACTGCCCCCCTCTAC	0.505																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1192-1194)cccfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85866422_85866423insC	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1198dupC	2.37:g.85866428_85866428dupC	ENSP00000312981:p.Ala398fs		Somatic				USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs	p.P398fs	NM_006590.3	NP_006581.2	WXS	Illumina GAIIx	Phase_I	Q53GS9	SNUT2_HUMAN			9	1202_1203	+			398					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1192_1193insC	CCDS33234.1																																																																																				0.505	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		10	755						10	755	---	---	---	---
ATOH8	84913	broad.mit.edu	37	2	85991255	85991256	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85991255_85991256delCA	ENST00000306279.3	+	2	1206_1207	c.910_911delCA	c.(910-912)cagfs	p.Q304fs	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	304					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGAGTGTGTGCAGCGCTGCACC	0.634																																						ENST00000306279.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(910-912)gfs		atonal homolog 8 (Drosophila)																																				SO:0001589	frameshift_variant	84913				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:85991255_85991256delCA	AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.910_911delCA	2.37:g.85991255_85991256delCA	ENSP00000304676:p.Gln304fs		Somatic				ATOH8_ENST00000463422.1_3'UTR	p.Q304fs	NM_032827.6	NP_116216.2	WXS	Illumina GAIIx	Phase_I	Q96SQ7	ATOH8_HUMAN			2	1206_1207	+			304					Q504S2|Q659B0	Frame_Shift_Del	DEL	ENST00000306279.3	37	c.910_911delCA	CCDS1985.1																																																																																				0.634	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252496.1	NM_032827		12	431						12	431	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86258575	86258576	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:86258575_86258576insT	ENST00000263857.6	-	30	4833_4834	c.4455_4456insA	c.(4453-4458)aaacccfs	p.P1486fs	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1486					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTGTGGGTGGGTTTCCGGGGCT	0.639																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4453-4458)aaccacfs		polymerase (RNA) I polypeptide A, 194kDa																																				SO:0001589	frameshift_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258575_86258576insT	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4456dupA	2.37:g.86258578_86258578dupT	ENSP00000263857:p.Pro1486fs		Somatic				POLR1A_ENST00000409681.1_Intron	p.NH1485fs			WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			30	4833_4834	-			1485					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Frame_Shift_Ins	INS	ENST00000263857.6	37	c.4455_4456insA	CCDS42706.1																																																																																				0.639	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		8	1818						8	1818	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97365230	97365231	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:97365230_97365231insG	ENST00000457909.1	+	0	4113							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGGTGAGGGAGGGGGGCACAG	0.579																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97365230_97365231insG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365236_97365236dupG			Somatic								WXS	Illumina GAIIx	Phase_I	A0AVI2	FR1L5_HUMAN			0	4113	+								Q17RH2|Q6ZU24	RNA	INS	ENST00000457909.1	37																																																																																						0.579	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		9	601						9	601	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs		Somatic				IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		18	1168						18	1168	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102644748	102644749	+	Frame_Shift_Ins	INS	-	-	G	rs145225100		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:102644748_102644749insG	ENST00000332549.3	+	9	1320_1321	c.1091_1092insG	c.(1090-1095)ttggggfs	p.LG364fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.LG364fs|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	364					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TTCTTGGTTTTGGGGGGAATAT	0.515																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(1090-1092)tggfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102644748_102644749insG	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1097dupG	2.37:g.102644754_102644754dupG	ENSP00000330959:p.Leu364fs		Somatic				IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.W364fs	p.W364fs	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			9	1320_1321	+			364					D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.1091_1092insG	CCDS2054.1																																																																																				0.515	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		15	483						15	483	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs		Somatic				EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs	p.H144fs			WXS	Illumina GAIIx	Phase_I	Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			16	557						16	557	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:128707524_128707525insG	ENST00000259235.3	-	17	2817_2818	c.2688_2689insC	c.(2686-2691)cccattfs	p.I897fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.I905fs|SAP130_ENST00000357702.5_Frame_Shift_Ins_p.I932fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.46																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2791-2796)ccttacfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707524_128707525insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2689dupC	2.37:g.128707530_128707530dupG	ENSP00000259235:p.Ile897fs		Somatic				SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs	p.Y932fs	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	18	2924_2925	-	Colorectal(110;0.1)		897			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.2793_2794insC	CCDS2153.1																																																																																				0.460	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		9	1324						9	1324	---	---	---	---
POTEJ	653781	broad.mit.edu	37	2	131414398	131414399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:131414398_131414399insC	ENST00000409602.1	+	15	2117_2118	c.2065_2066insC	c.(2065-2067)gccfs	p.A689fs		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	689	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						GGGCGACGATGCCCCCCGGGCT	0.604																																						ENST00000409602.1																			0				lung(5)	5						c.(2065-2067)cccfs		POTE ankyrin domain family, member J																																				SO:0001589	frameshift_variant	653781							g.chr2:131414398_131414399insC		CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.2071dupC	2.37:g.131414404_131414404dupC	ENSP00000387176:p.Ala689fs		Somatic					p.P689fs	NM_001277083.1	NP_001264012.1	WXS	Illumina GAIIx	Phase_I					15	2117_2118	+									Frame_Shift_Ins	INS	ENST00000409602.1	37	c.2065_2066insC	CCDS59432.1																																																																																				0.604	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333665.1	XM_929706		11	661						11	661	---	---	---	---
POTEJ	653781	broad.mit.edu	37	2	131414453	131414454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:131414453_131414454insG	ENST00000409602.1	+	15	2172_2173	c.2120_2121insG	c.(2119-2124)atggggfs	p.MG707fs		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	707	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						CAGGGCATGATGGGGGGCATGC	0.624																																						ENST00000409602.1																			0				lung(5)	5						c.(2119-2121)aggfs		POTE ankyrin domain family, member J																																				SO:0001589	frameshift_variant	653781							g.chr2:131414453_131414454insG		CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.2126dupG	2.37:g.131414459_131414459dupG	ENSP00000387176:p.Met707fs		Somatic					p.R707fs	NM_001277083.1	NP_001264012.1	WXS	Illumina GAIIx	Phase_I					15	2172_2173	+									Frame_Shift_Ins	INS	ENST00000409602.1	37	c.2120_2121insG	CCDS59432.1																																																																																				0.624	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333665.1	XM_929706		14	1499						14	1499	---	---	---	---
TUBA3D	113457	broad.mit.edu	37	2	132238224	132238225	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:132238224_132238225insG	ENST00000321253.6	+	4	1065_1066	c.958_959insG	c.(958-960)aggfs	p.R320fs		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	320					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CATGTTGTACAGGGGGGACGTG	0.569																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(958-960)gggfs		tubulin, alpha 3d																																				SO:0001589	frameshift_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238224_132238225insG	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.964dupG	2.37:g.132238230_132238230dupG	ENSP00000326042:p.Arg320fs		Somatic					p.G320fs	NM_080386.3	NP_525125.2	WXS	Illumina GAIIx	Phase_I	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	1065_1066	+			320					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Frame_Shift_Ins	INS	ENST00000321253.6	37	c.958_959insG	CCDS33290.1																																																																																				0.569	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		16	2252						16	2252	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135740765	135740766	+	Intron	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:135740765_135740766insC	ENST00000375845.3	-	8	3253				MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Frame_Shift_Ins_p.V1137fs|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ttcatcgcccaccccCCAAGAT	0.376																																						ENST00000392915.1																			0											c.(3409-3411)gggfs		mitogen-activated protein kinase kinase kinase 19																																				SO:0001627	intron_variant	80122							g.chr2:135740765_135740766insC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3222+479->G	2.37:g.135740771_135740771dupC			Somatic				MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	p.G1137fs			WXS	Illumina GAIIx	Phase_I					9	3528_3529	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Frame_Shift_Ins	INS	ENST00000375845.3	37	c.3409_3410insG	CCDS2176.2																																																																																				0.376	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		11	277						11	277	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)gcafs	p.A749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTTTACTTGCCCCCCGAAAG	0.485																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Insertion - Frameshift(1)	p.A749fs*3(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2245-2247)aagfs		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256860_163256861insC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2246dupG	2.37:g.163256866_163256866dupC	ENSP00000331727:p.Ala749fs		Somatic					p.K749fs	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			10	2344_2345	-			749					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.2245_2246insG	CCDS2219.1																																																																																				0.485	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		8	281						8	281	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166152508	166152509	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:166152508_166152509insT	ENST00000375437.2	+	2	465_466	c.175_176insT	c.(175-177)ggafs	p.G59fs	SCN2A_ENST00000357398.3_Frame_Shift_Ins_p.G59fs|SCN2A_ENST00000375427.2_Frame_Shift_Ins_p.G59fs|SCN2A_ENST00000283256.6_Frame_Shift_Ins_p.G59fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	59					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGGAAGCAGGAAAATCTCTT	0.446																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(175-177)aaafs		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)																																			SO:0001589	frameshift_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166152508_166152509insT	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	Exception_encountered	2.37:g.166152508_166152509insT	ENSP00000364586:p.Gly59fs		Somatic				SCN2A_ENST00000283256.6_Frame_Shift_Ins_p.K59fs|SCN2A_ENST00000375437.2_Frame_Shift_Ins_p.K59fs|SCN2A_ENST00000375427.2_Frame_Shift_Ins_p.K59fs	p.K59fs			WXS	Illumina GAIIx	Phase_I	Q99250	SCN2A_HUMAN			2	465_466	+			59					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Ins	INS	ENST00000375437.2	37	c.175_176insT	CCDS33314.1																																																																																				0.446	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		14	215						14	215	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs		Somatic				XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	p.TG685fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		19	258						19	258	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs		Somatic				MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR	p.NP417fs			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			15	480						15	480	---	---	---	---
SCRN3	79634	broad.mit.edu	37	2	175264719	175264720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:175264719_175264720insG	ENST00000272732.6	+	3	311_312	c.229_230insG	c.(229-231)tggfs	p.W77fs	SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.W70fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	77							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGCGTGGTTGTGGGGGGCAGAA	0.406																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(229-231)gggfs		secernin 3																																				SO:0001589	frameshift_variant	79634				proteolysis		dipeptidase activity	g.chr2:175264719_175264720insG	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.235dupG	2.37:g.175264725_175264725dupG	ENSP00000272732:p.Trp77fs		Somatic				SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.G70fs	p.G77fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	WXS	Illumina GAIIx	Phase_I	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		3	311_312	+			77					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Frame_Shift_Ins	INS	ENST00000272732.6	37	c.229_230insG	CCDS2258.1																																																																																				0.406	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		8	356						8	356	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179255834	179255835	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:179255834_179255835insG	ENST00000190611.4	+	22	2712_2713	c.2336_2337insG	c.(2335-2340)caggggfs	p.QG779fs	OSBPL6_ENST00000392505.2_Frame_Shift_Ins_p.QG804fs|OSBPL6_ENST00000315022.2_Frame_Shift_Ins_p.QG783fs|OSBPL6_ENST00000359685.3_Frame_Shift_Ins_p.QG743fs|OSBPL6_ENST00000409631.1_Frame_Shift_Ins_p.QG743fs|OSBPL6_ENST00000409045.3_Frame_Shift_Ins_p.QG748fs	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	779					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AATGAAGTCCAGGGGGTGGTGA	0.455																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2335-2337)cggfs		oxysterol binding protein-like 6																																				SO:0001589	frameshift_variant	114880				lipid transport		lipid binding	g.chr2:179255834_179255835insG	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2341dupG	2.37:g.179255839_179255839dupG	ENSP00000190611:p.Gln779fs		Somatic				OSBPL6_ENST00000409631.1_Frame_Shift_Ins_p.R743fs|OSBPL6_ENST00000392505.2_Frame_Shift_Ins_p.R804fs|OSBPL6_ENST00000359685.3_Frame_Shift_Ins_p.R743fs|OSBPL6_ENST00000315022.2_Frame_Shift_Ins_p.R783fs|OSBPL6_ENST00000409045.3_Frame_Shift_Ins_p.R748fs	p.R779fs	NM_032523.3	NP_115912.1	WXS	Illumina GAIIx	Phase_I	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		22	2712_2713	+			779					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Frame_Shift_Ins	INS	ENST00000190611.4	37	c.2336_2337insG	CCDS2277.1																																																																																				0.455	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		10	794						10	794	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179485124	179485125	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:179485124_179485125insT	ENST00000591111.1	-	198	41424_41425	c.41200_41201insA	c.(41200-41202)gctfs	p.A13734fs	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.A6502fs|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.A15375fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.A12807fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.A6310fs|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.A6435fs			Q8WZ42	TITIN_HUMAN	titin	13734	Ig-like 93.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTGTCCAGCAGTGACAATG	0.436																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(46123-46125)tggfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485124_179485125insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41200_41201insA	2.37:g.179485124_179485125insT	ENSP00000465570:p.Ala13734fs		Somatic				TTN_ENST00000591111.1_Frame_Shift_Ins_p.W13734fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.W6310fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.W6435fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.W6502fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.W12807fs	p.W15375fs	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		248	46347_46348	-			13734			Ig-like 97.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.46123_46124insA																																																																																					0.436	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	270						36	270	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		12	589						12	589	---	---	---	---
SLC40A1	30061	broad.mit.edu	37	2	190430272	190430273	+	Frame_Shift_Ins	INS	-	-	G	rs373705898		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:190430272_190430273insG	ENST00000261024.2	-	6	993_994	c.567_568insC	c.(565-570)cccatgfs	p.M190fs		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	190					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CCAACAGCCATGGGGGCTAAGA	0.485																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(565-570)cctggcfs		solute carrier family 40 (iron-regulated transporter), member 1																																				SO:0001589	frameshift_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190430272_190430273insG	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.568dupC	2.37:g.190430277_190430277dupG	ENSP00000261024:p.Met190fs		Somatic					p.G190fs	NM_014585.5	NP_055400.1	WXS	Illumina GAIIx	Phase_I	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		6	993_994	-			190					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Frame_Shift_Ins	INS	ENST00000261024.2	37	c.567_568insC	CCDS2299.1																																																																																				0.485	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			7	628						7	628	---	---	---	---
MFSD6	54842	broad.mit.edu	37	2	191301838	191301839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:191301838_191301839insC	ENST00000392328.1	+	3	1407_1408	c.1083_1084insC	c.(1084-1086)cccfs	p.P362fs	MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.P362fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	362					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGGGTGTAAGCCCCCCGAGTA	0.579																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1081-1086)aaccccfs		major facilitator superfamily domain containing 6																																				SO:0001589	frameshift_variant	54842				transmembrane transport	integral to membrane		g.chr2:191301838_191301839insC		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1089dupC	2.37:g.191301844_191301844dupC	ENSP00000376141:p.Pro362fs		Somatic				MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.NP361fs	p.NP361fs	NM_017694.3	NP_060164.3	WXS	Illumina GAIIx	Phase_I	Q6ZSS7	MFSD6_HUMAN			3	1407_1408	+			361					D3KSZ4|Q86TH2|Q9NXM3	Frame_Shift_Ins	INS	ENST00000392328.1	37	c.1083_1084insC	CCDS2306.1																																																																																				0.579	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			7	249						7	249	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197990602	197990603	+	Frame_Shift_Ins	INS	-	-	C	rs568552922		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:197990602_197990603insC	ENST00000328737.2	-	5	421_422	c.345_346insG	c.(343-348)gggcgcfs	p.R116fs	ANKRD44_ENST00000409919.1_Frame_Shift_Ins_p.R141fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.R116fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.R141fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.R69fs|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.R116fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.R133fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	141										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGGCTGTGCGCCCCCCTCGGT	0.559																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(343-348)gggcacfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197990602_197990603insC	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.346dupG	2.37:g.197990608_197990608dupC	ENSP00000331516:p.Arg116fs		Somatic				ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.H133fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.H69fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000409919.1_Frame_Shift_Ins_p.H141fs	p.H116fs			WXS	Illumina GAIIx	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	421_422	-			141					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Ins	INS	ENST00000328737.2	37	c.345_346insG																																																																																					0.559	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		8	385						8	385	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Insertion - Frameshift(2)	p.K781fs*3(2)	ovary(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2332-2334)cccfs		ADAM metallopeptidase domain 23																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs		Somatic				ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	p.P778fs	NM_003812.2	NP_003803.1	WXS	Illumina GAIIx	Phase_I	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2661_2662	+			778					A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		11	184						11	184	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214878729	214878730	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:214878729_214878730insT	ENST00000331683.5	+	13	1550_1551	c.1455_1456insT	c.(1456-1458)tttfs	p.F486fs	SPAG16_ENST00000374309.3_Frame_Shift_Ins_p.F392fs	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	486					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACAGCATTGAGTTTTTTCCTTT	0.366																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1453-1458)gattttfs		sperm associated antigen 16																																				SO:0001589	frameshift_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214878729_214878730insT	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1461dupT	2.37:g.214878735_214878735dupT	ENSP00000332592:p.Phe486fs		Somatic				SPAG16_ENST00000374309.3_Frame_Shift_Ins_p.DF391fs	p.DF485fs	NM_024532.4	NP_078808.3	WXS	Illumina GAIIx	Phase_I	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	13	1550_1551	+		Renal(323;0.00461)	485					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Frame_Shift_Ins	INS	ENST00000331683.5	37	c.1455_1456insT	CCDS2396.1																																																																																				0.366	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		7	594						7	594	---	---	---	---
IGFBP2	3485	broad.mit.edu	37	2	217526638	217526640	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:217526638_217526640delCCG	ENST00000233809.4	+	3	859_861	c.730_732delCCG	c.(730-732)ccgdel	p.P244del	IGFBP2_ENST00000456764.1_In_Frame_Del_p.P100del	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	244	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)	p.P244P(1)		endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CATGCGCCTTCCGGATGAGCGGG	0.621																																						ENST00000233809.4																			1	Substitution - coding silent(1)	p.P244P(1)	endometrium(1)	endometrium(2)|large_intestine(1)|lung(2)	5						c.(730-732)del		insulin-like growth factor binding protein 2, 36kDa																																				SO:0001651	inframe_deletion	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217526638_217526640delCCG		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.730_732delCCG	2.37:g.217526638_217526640delCCG	ENSP00000233809:p.Pro244del		Somatic				IGFBP2_ENST00000456764.1_In_Frame_Del_p.P100del	p.P244del	NM_000597.2	NP_000588.2	WXS	Illumina GAIIx	Phase_I	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	3	859_861	+		Renal(323;0.0458)	244			Thyroglobulin type-1.		Q14619|Q9UCL3	In_Frame_Del	DEL	ENST00000233809.4	37	c.730_732delCCG	CCDS42815.1																																																																																				0.621	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		24	228						24	228	---	---	---	---
IGFBP2	3485	broad.mit.edu	37	2	217526686	217526686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:217526686delA	ENST00000233809.4	+	3	907	c.778delA	c.(778-780)aacfs	p.N260fs	IGFBP2_ENST00000456764.1_Frame_Shift_Del_p.N116fs	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	260	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		GCACATCCCCAACTGTGACAA	0.627																																						ENST00000233809.4																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(778-780)acfs		insulin-like growth factor binding protein 2, 36kDa							68.0	75.0	73.0					2																	217526686		2132	4244	6376	SO:0001589	frameshift_variant	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217526686delA		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.778delA	2.37:g.217526686delA	ENSP00000233809:p.Asn260fs		Somatic				IGFBP2_ENST00000456764.1_Frame_Shift_Del_p.N116fs	p.N260fs	NM_000597.2	NP_000588.2	WXS	Illumina GAIIx	Phase_I	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	3	907	+		Renal(323;0.0458)	260			Thyroglobulin type-1.		Q14619|Q9UCL3	Frame_Shift_Del	DEL	ENST00000233809.4	37	c.778delA	CCDS42815.1																																																																																				0.627	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		12	313						12	313	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs		Somatic				RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000441828.2_3'UTR	p.W385fs			WXS	Illumina GAIIx	Phase_I	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		25	568						25	568	---	---	---	---
RQCD1	9125	broad.mit.edu	37	2	219449377	219449378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:219449377_219449378insT	ENST00000273064.6	+	4	738_739	c.363_364insT	c.(364-366)tttfs	p.F122fs	RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.F122fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.F122fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.F122fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	122					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTTGTACCCCTTTTTGCACAC	0.431																																						ENST00000273064.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(361-366)ccttttfs		RCD1 required for cell differentiation1 homolog (S. pombe)																																				SO:0001589	frameshift_variant	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219449377_219449378insT	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.368dupT	2.37:g.219449382_219449382dupT	ENSP00000273064:p.Phe122fs		Somatic				RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.PF121fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.PF121fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.PF121fs	p.PF121fs	NM_005444.2	NP_005435.1	WXS	Illumina GAIIx	Phase_I	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	738_739	+		Renal(207;0.0915)	121					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Frame_Shift_Ins	INS	ENST00000273064.6	37	c.363_364insT	CCDS33379.1																																																																																				0.431	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		8	909						8	909	---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220046975	220046976	+	Frame_Shift_Ins	INS	-	-	A	rs3731900	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220046975_220046976insA	ENST00000430297.2	+	9	1392_1393	c.1256_1257insA	c.(1255-1260)ccagatfs	p.D420fs		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	420						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTCCCCCCCAGATGGAGTGA	0.604																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(1255-1257)cgafs		family with sequence similarity 134, member A																																				SO:0001589	frameshift_variant	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046975_220046976insA	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1257dupA	2.37:g.220046976_220046976dupA	ENSP00000395249:p.Asp420fs		Somatic					p.R419fs	NM_024293.4	NP_077269.3	WXS	Illumina GAIIx	Phase_I	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1392_1393	+		Renal(207;0.0915)	419		P -> Q (in dbSNP:rs3731900).			Q6P1P5|Q9H0K7	Frame_Shift_Ins	INS	ENST00000430297.2	37	c.1256_1257insA	CCDS2434.1																																																																																				0.604	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		7	398						7	398	---	---	---	---
TUBA4A	7277	broad.mit.edu	37	2	220115894	220115895	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220115894_220115895insG	ENST00000248437.4	-	4	699_700	c.526_527insC	c.(526-528)cagfs	p.Q176fs	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000392088.2_Frame_Shift_Ins_p.Q161fs	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	176					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TGTAGACACCTGGGGGGCTGGG	0.569																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(481-483)ggtfs		tubulin, alpha 4a																																				SO:0001589	frameshift_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115894_220115895insG	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.527dupC	2.37:g.220115900_220115900dupG	ENSP00000248437:p.Gln176fs		Somatic				TUBA4A_ENST00000248437.4_Frame_Shift_Ins_p.G176fs|TUBA4A_ENST00000498660.1_5'UTR	p.G161fs	NM_001278552.1	NP_001265481.1	WXS	Illumina GAIIx	Phase_I	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1036_1037	-		Renal(207;0.0474)	176					A8MUB1|B3KNQ6|P05215	Frame_Shift_Ins	INS	ENST00000248437.4	37	c.481_482insC	CCDS2438.1																																																																																				0.569	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		9	510						9	510	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220402687	220402688	+	Frame_Shift_Ins	INS	-	-	G	rs115824877	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220402687_220402688insG	ENST00000347842.3	+	9	1877_1878	c.1863_1864insG	c.(1864-1866)gggfs	p.G622fs	ASIC4_ENST00000358078.4_Frame_Shift_Ins_p.G641fs	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	622					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GAGTGGAGGGTGGGGGGGTCAG	0.629																																						ENST00000358078.4																			0											c.(1918-1923)ggggggfs		acid-sensing (proton-gated) ion channel family member 4																																				SO:0001589	frameshift_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220402687_220402688insG	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1870dupG	2.37:g.220402694_220402694dupG	ENSP00000326627:p.Gly622fs		Somatic				ASIC4_ENST00000347842.3_Frame_Shift_Ins_p.GG621fs	p.GG640fs			WXS	Illumina GAIIx	Phase_I	Q96FT7	ACCN4_HUMAN			10	1934_1935	+			621					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Frame_Shift_Ins	INS	ENST00000347842.3	37	c.1920_1921insG	CCDS2442.1																																																																																				0.629	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		7	79						7	79	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220502412	220502413	+	Frame_Shift_Ins	INS	-	-	C	rs548755718		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220502412_220502413insC	ENST00000358055.3	+	17	3157_3158	c.2645_2646insC	c.(2644-2649)ggccccfs	p.GP882fs	SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.GP882fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.GP909fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.GP909fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.GP882fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	882	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACCGAGGGCCCCCCCAGCC	0.644																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2644-2646)gccfs		solute carrier family 4 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502412_220502413insC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2652dupC	2.37:g.220502419_220502419dupC	ENSP00000350756:p.Gly882fs		Somatic				SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A882fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A882fs	p.A882fs			WXS	Illumina GAIIx	Phase_I	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3157_3158	+		Renal(207;0.0183)	882			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.2645_2646insC	CCDS2445.1																																																																																				0.644	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		11	248						11	248	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220505167	220505168	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220505167_220505168insG	ENST00000358055.3	+	21	3805_3806	c.3293_3294insG	c.(3292-3297)atggggfs	p.MG1098fs	SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.MG1098fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.MG1125fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.MG1125fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.MG1098fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1098	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCATCGTCATGGGGGCTGTGC	0.609																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3292-3294)aggfs		solute carrier family 4 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220505167_220505168insG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3298dupG	2.37:g.220505172_220505172dupG	ENSP00000350756:p.Met1098fs		Somatic				SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.R1098fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.R1125fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.R1125fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.R1098fs	p.R1098fs			WXS	Illumina GAIIx	Phase_I	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	21	3805_3806	+		Renal(207;0.0183)	1098			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.3293_3294insG	CCDS2445.1																																																																																				0.609	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		7	1189						7	1189	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		Somatic				NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		29	378						29	378	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227953486	227953487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:227953486_227953487insG	ENST00000396625.3	-	22	1712_1713	c.1505_1506insC	c.(1504-1506)cctfs	p.P502fs	COL4A4_ENST00000329662.7_Frame_Shift_Ins_p.P502fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	502	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGAGGGCCAGGGGGGCCCAT	0.554																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1504-1506)cggfs		collagen, type IV, alpha 4																																				SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227953486_227953487insG		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1506dupC	2.37:g.227953492_227953492dupG	ENSP00000379866:p.Pro502fs		Somatic				COL4A4_ENST00000329662.7_Frame_Shift_Ins_p.R502fs	p.R502fs	NM_000092.4	NP_000083.3	WXS	Illumina GAIIx	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	22	1712_1713	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	502			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Ins	INS	ENST00000396625.3	37	c.1505_1506insC	CCDS42828.1																																																																																				0.554	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		9	329						9	329	---	---	---	---
SLC19A3	80704	broad.mit.edu	37	2	228563788	228563789	+	In_Frame_Ins	INS	-	-	ATC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:228563788_228563789insATC	ENST00000258403.3	-	3	713_714	c.642_643insGAT	c.(640-645)aatcca>aatGATcca	p.214_215NP>NDP	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_In_Frame_Ins_p.210_211NP>NDP	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	214					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TCTAATACTGGATTCACGCTTG	0.446																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(640-645)aacagt>aaGATcagt		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)																																			SO:0001652	inframe_insertion	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563788_228563789insATC	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.642_643insGAT	2.37:g.228563788_228563789insATC	ENSP00000258403:p.Asn214_Pro215insAsp		Somatic				SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_In_Frame_Ins_p.210_210N>KI	p.214_214N>KI	NM_025243.3	NP_079519.1	WXS	Illumina GAIIx	Phase_I	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	713_714	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	214						In_Frame_Ins	INS	ENST00000258403.3	37	c.642_643insGAT	CCDS2468.1																																																																																				0.446	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			10	101						10	101	---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233128030	233128031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:233128030_233128031insC	ENST00000409307.1	+	12	1539_1540	c.1539_1540insC	c.(1540-1542)cccfs	p.P514fs	DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.P514fs|DIS3L2_ENST00000325385.7_Frame_Shift_Ins_p.P514fs					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGAAAGAGCTGCCCCCCATTTC	0.559																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1537-1542)ctccccfs		DIS3 mitotic control homolog (S. cerevisiae)-like 2																																				SO:0001589	frameshift_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233128030_233128031insC	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1545dupC	2.37:g.233128036_233128036dupC	ENSP00000386799:p.Pro514fs		Somatic				DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.LP513fs|DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.LP513fs	p.LP513fs	NM_152383.4	NP_689596.4	WXS	Illumina GAIIx	Phase_I	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	13	1815_1816	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	513						Frame_Shift_Ins	INS	ENST00000409307.1	37	c.1539_1540insC	CCDS42834.1																																																																																				0.559	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		9	298						9	298	---	---	---	---
EIF4E2	9470	broad.mit.edu	37	2	233431933	233431934	+	Intron	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:233431933_233431934insG	ENST00000258416.3	+	6	1338				EIF4E2_ENST00000409098.1_Intron|EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409167.3_Frame_Shift_Ins_p.LG180fs|EIF4E2_ENST00000409514.1_Intron|EIF4E2_ENST00000409495.1_Frame_Shift_Ins_p.LG225fs	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2						cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGTACGTGTTGGGGGGTTATG	0.515																																						ENST00000409167.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(538-540)tggfs		eukaryotic translation initiation factor 4E family member 2																																				SO:0001627	intron_variant	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233431933_233431934insG	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.665+9->G	2.37:g.233431939_233431939dupG			Somatic				EIF4E2_ENST00000409098.1_Intron|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409495.1_Frame_Shift_Ins_p.W225fs|EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000258416.3_Intron|EIF4E2_ENST00000409514.1_Intron	p.W180fs			WXS	Illumina GAIIx	Phase_I	O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	5	575_576	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	0					B8ZZJ9|O75349	Frame_Shift_Ins	INS	ENST00000258416.3	37	c.539_540insG	CCDS2496.1																																																																																				0.515	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846		11	681						11	681	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs		Somatic				INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs	p.P404fs			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		37	554						37	554	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)tggfs	p.W853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.W809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2557-2559)gggfs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234365951_234365952insG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2564dupG	2.37:g.234365958_234365958dupG	ENSP00000264057:p.Trp853fs		Somatic				DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	p.G853fs	NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	21	2569_2570	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	853					Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.2557_2558insG	CCDS2504.1																																																																																				0.579	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		11	217						11	217	---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234622465	234622466	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:234622465_234622466insG	ENST00000373414.3	+	1	828_829	c.828_829insG	c.(829-831)gggfs	p.G277fs	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Frame_Shift_Ins_p.G277fs|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	277						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGGTCTTCATTGGGGGCATCAA	0.475																																						ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(826-831)atggggfs																																						SO:0001589	frameshift_variant	54579							g.chr2:234622465_234622466insG	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.833dupG	2.37:g.234622470_234622470dupG	ENSP00000362513:p.Gly277fs		Somatic				UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	p.MG276fs	NM_019078.1	NP_061951.1	WXS	Illumina GAIIx	Phase_I				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	828_829	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K294	Frame_Shift_Ins	INS	ENST00000373414.3	37	c.828_829insG	CCDS33404.1																																																																																				0.475	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		7	1054						7	1054	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		17	269						17	269	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242082433	242082434	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:242082433_242082434insC	ENST00000405260.1	-	2	712_713	c.14_15insG	c.(13-15)ggcfs	p.G5fs	PASK_ENST00000544142.1_5'UTR|PASK_ENST00000234040.4_Frame_Shift_Ins_p.G5fs|PASK_ENST00000358649.4_Frame_Shift_Ins_p.G5fs|PASK_ENST00000403638.3_Frame_Shift_Ins_p.G5fs|PASK_ENST00000539818.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	5					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGGCTGTTAAGCCCCCGTCCTC	0.53																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(13-15)gttfs		PAS domain containing serine/threonine kinase																																				SO:0001589	frameshift_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242082433_242082434insC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.15dupG	2.37:g.242082438_242082438dupC	ENSP00000384016:p.Gly5fs		Somatic				PASK_ENST00000544142.1_5'UTR|PASK_ENST00000405260.1_Frame_Shift_Ins_p.V5fs|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Frame_Shift_Ins_p.V5fs|PASK_ENST00000358649.4_Frame_Shift_Ins_p.V5fs	p.V5fs	NM_001252124.1	NP_001239053.1	WXS	Illumina GAIIx	Phase_I	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	2	105_106	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	5					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Frame_Shift_Ins	INS	ENST00000405260.1	37	c.14_15insG	CCDS2545.1																																																																																				0.530	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		7	2424						7	2424	---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242092998	242092999	+	Frame_Shift_Ins	INS	-	-	G	rs140300724|rs372463197		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:242092998_242092999insG	ENST00000234038.6	+	2	634_635	c.160_161insG	c.(160-162)cggfs	p.R54fs	PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAGGAGCGGGGGGAGGAG	0.629																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(160-162)gggfs		protein phosphatase 1, regulatory subunit 7																																				SO:0001589	frameshift_variant	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242092998_242092999insG	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.166dupG	2.37:g.242093004_242093004dupG	ENSP00000234038:p.Arg54fs		Somatic				PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000402734.1_Intron	p.G54fs	NM_002712.1	NP_002703.1	WXS	Illumina GAIIx	Phase_I	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	2	634_635	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	54					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Frame_Shift_Ins	INS	ENST00000234038.6	37	c.160_161insG	CCDS2546.1																																																																																				0.629	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		15	757						15	757	---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242179466	242179467	+	Frame_Shift_Ins	INS	-	-	C	rs183637245	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:242179466_242179467insC	ENST00000391975.1	-	18	2467_2468	c.2240_2241insG	c.(2239-2241)ggcfs	p.G747fs	HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.G714fs	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	747	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAATTTTGCCGCCCCCCTTGCC	0.545																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2239-2241)gggfs		high density lipoprotein binding protein																																				SO:0001589	frameshift_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179466_242179467insC		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2241dupG	2.37:g.242179472_242179472dupC	ENSP00000375836:p.Gly747fs		Somatic				HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.G714fs	p.G747fs	NM_203346.3	NP_976221.1	WXS	Illumina GAIIx	Phase_I	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2467_2468	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	747			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Frame_Shift_Ins	INS	ENST00000391975.1	37	c.2240_2241insG	CCDS2547.1																																																																																				0.545	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		9	864						9	864	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs		Somatic				SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	WXS	Illumina GAIIx	Phase_I	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			21	336						21	336	---	---	---	---
THUMPD3-AS1	440944	broad.mit.edu	37	3	9390686	9390687	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:9390686_9390687insC	ENST00000468186.1	-	0	6506				RP11-380O24.1_ENST00000517846.1_RNA|RP11-380O24.1_ENST00000518331.1_RNA|RP11-380O24.1_ENST00000466431.2_RNA|RP11-380O24.1_ENST00000491930.2_RNA																							CATGGCAACAGCCCCCCGGGCA	0.52																																						ENST00000491930.2																			0																																																			0							g.chr3:9390686_9390687insC																													3.37:g.9390692_9390692dupC			Somatic				RP11-380O24.1_ENST00000518331.1_RNA				WXS	Illumina GAIIx	Phase_I					0	190	-									RNA	INS	ENST00000468186.1	37																																																																																						0.520	SETD5-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000378422.1			9	600						9	600	---	---	---	---
CIDEC	63924	broad.mit.edu	37	3	9908868	9908869	+	Frame_Shift_Ins	INS	-	-	G	rs370635418		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:9908868_9908869insG	ENST00000336832.2	-	6	805_806	c.666_667insC	c.(664-669)cccaagfs	p.K223fs	CIDEC_ENST00000443115.1_Frame_Shift_Ins_p.Q107fs|CIDEC_ENST00000383817.1_Frame_Shift_Ins_p.Q107fs|CIDEC_ENST00000423850.1_Frame_Shift_Ins_p.K149fs|CIDEC_ENST00000430427.1_Frame_Shift_Ins_p.K233fs|CIDEC_ENST00000455015.1_Frame_Shift_Ins_p.K149fs	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	223					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCCTTGCCCTTGGGGGGCTGCC	0.604																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(664-669)ccagggfs		cell death-inducing DFFA-like effector c																																				SO:0001589	frameshift_variant	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9908868_9908869insG		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.667dupC	3.37:g.9908874_9908874dupG	ENSP00000338642:p.Lys223fs		Somatic				CIDEC_ENST00000455015.1_Frame_Shift_Ins_p.G149fs|CIDEC_ENST00000443115.1_Frame_Shift_Ins_p.R107fs|CIDEC_ENST00000430427.1_Frame_Shift_Ins_p.G233fs|CIDEC_ENST00000423850.1_Frame_Shift_Ins_p.G149fs|CIDEC_ENST00000383817.1_Frame_Shift_Ins_p.R107fs	p.G223fs	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	WXS	Illumina GAIIx	Phase_I	Q96AQ7	CIDEC_HUMAN			6	805_806	-	Medulloblastoma(99;0.227)		223					C9JMN7|Q67DW9|Q9GZY9	Frame_Shift_Ins	INS	ENST00000336832.2	37	c.666_667insC	CCDS2587.1																																																																																				0.604	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		10	1003						10	1003	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13363203	13363204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:13363203_13363204insC	ENST00000254508.5	-	36	5129_5130	c.5047_5048insG	c.(5047-5049)gccfs	p.A1683fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1683					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGGCACCTCGGCCCCCACCTGC	0.604																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5047-5049)cgafs		nucleoporin 210kDa																																				SO:0001589	frameshift_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13363203_13363204insC	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5048dupG	3.37:g.13363208_13363208dupC	ENSP00000254508:p.Ala1683fs		Somatic					p.R1683fs	NM_024923.2	NP_079199.2	WXS	Illumina GAIIx	Phase_I	Q8TEM1	PO210_HUMAN			36	5129_5130	-	all_neural(104;0.187)		1683					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Frame_Shift_Ins	INS	ENST00000254508.5	37	c.5047_5048insG	CCDS33704.1																																																																																				0.604	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		10	947						10	947	---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16419475	16419476	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:16419475_16419476insT	ENST00000334133.4	-	5	847_848	c.575_576insA	c.(574-576)aacfs	p.N192fs	RFTN1_ENST00000432519.1_Frame_Shift_Ins_p.N156fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	192					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCCCACGTGCGTTTTTTGCATC	0.574																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(574-576)agcfs		raftlin, lipid raft linker 1																																				SO:0001589	frameshift_variant	23180					plasma membrane		g.chr3:16419475_16419476insT	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.576dupA	3.37:g.16419481_16419481dupT	ENSP00000334153:p.Asn192fs		Somatic				RFTN1_ENST00000432519.1_Frame_Shift_Ins_p.S156fs	p.S192fs	NM_015150.1	NP_055965.1	WXS	Illumina GAIIx	Phase_I	Q14699	RFTN1_HUMAN			5	847_848	-			192					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Frame_Shift_Ins	INS	ENST00000334133.4	37	c.575_576insA	CCDS33712.1																																																																																				0.574	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		8	318						8	318	---	---	---	---
THRB	7068	broad.mit.edu	37	3	24164402	24164403	+	Frame_Shift_Ins	INS	-	-	G	rs121918687		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:24164402_24164403insG	ENST00000356447.4	-	10	1642_1643	c.1358_1359insC	c.(1357-1359)cctfs	p.P453fs	THRB_ENST00000416420.1_Frame_Shift_Ins_p.P453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.P468fs|THRB_ENST00000396671.2_Frame_Shift_Ins_p.P453fs	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	453	Interaction with NR2F6.|Ligand-binding.		P -> H (in GTHR). {ECO:0000269|PubMed:2153155}.|P -> L (in GTHR). {ECO:0000269|PubMed:19268523}.|P -> S (in GTHR). {ECO:0000269|PubMed:7833659}.|P -> T (in GTHR; dbSNP:rs28933408). {ECO:0000269|PubMed:1619012, ECO:0000269|PubMed:1661299, ECO:0000269|PubMed:19268523, ECO:0000269|PubMed:8514853}.		female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCAAGAACAAAGGGGGGAAGAG	0.48																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19	GRCh37	CI062290|CM900208|CP015819	THRB	I|M|X	rs121918687	c.(1357-1359)cttfs		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)																																			SO:0001589	frameshift_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24164402_24164403insG		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.1359dupC	3.37:g.24164408_24164408dupG	ENSP00000348827:p.Pro453fs		Somatic				THRB_ENST00000356447.4_Frame_Shift_Ins_p.L453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.L468fs|THRB_ENST00000416420.1_Frame_Shift_Ins_p.L453fs	p.L453fs	NM_001128176.2	NP_001121648.1	WXS	Illumina GAIIx	Phase_I	P10828	THB_HUMAN			11	1706_1707	-			453		P -> H (in GTHR).|P -> L (in GTHR).|P -> S (in GTHR).|P -> T (in GTHR; dbSNP:rs28933408).	Interaction with NR2F6.|Ligand-binding.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Frame_Shift_Ins	INS	ENST00000356447.4	37	c.1358_1359insC	CCDS2641.1																																																																																				0.480	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		11	355						11	355	---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32932082	32932083	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:32932082_32932083insC	ENST00000383763.5	+	4	1449_1450	c.1386_1387insC	c.(1387-1389)cccfs	p.P463fs		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	463					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGTTCACACCCCCCGATCA	0.619																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1389)acccccfs		tripartite motif containing 71, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932082_32932083insC		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1392dupC	3.37:g.32932088_32932088dupC	ENSP00000373272:p.Pro463fs		Somatic					p.TP462fs	NM_001039111.1	NP_001034200.1	WXS	Illumina GAIIx	Phase_I	Q2Q1W2	LIN41_HUMAN			4	1449_1450	+			462						Frame_Shift_Ins	INS	ENST00000383763.5	37	c.1386_1387insC	CCDS43060.1																																																																																				0.619	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		14	427						14	427	---	---	---	---
GLB1	2720	broad.mit.edu	37	3	33038564	33038565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:33038564_33038565insT	ENST00000399402.3	-	16	2047_2048	c.1916_1917insA	c.(1915-1917)aacfs	p.N639fs	GLB1_ENST00000307363.5_Frame_Shift_Ins_p.N669fs|GLB1_ENST00000307377.8_Frame_Shift_Ins_p.N538fs|GLB1_ENST00000445488.2_Frame_Shift_Ins_p.N717fs	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	669					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ATGAATCTTTGTTTTTTTGCGG	0.48																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(2005-2007)aaafs		galactosidase, beta 1																																				SO:0001589	frameshift_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33038564_33038565insT	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1917dupA	3.37:g.33038571_33038571dupT	ENSP00000382333:p.Asn639fs		Somatic				GLB1_ENST00000307377.8_Frame_Shift_Ins_p.K538fs|GLB1_ENST00000445488.2_Frame_Shift_Ins_p.K717fs|GLB1_ENST00000399402.3_Frame_Shift_Ins_p.K639fs	p.K669fs	NM_000404.2	NP_000395.2	WXS	Illumina GAIIx	Phase_I	P16278	BGAL_HUMAN			16	2150_2151	-		Melanoma(143;0.104)	669					B2R7H8|B7Z6B0|P16279	Frame_Shift_Ins	INS	ENST00000399402.3	37	c.2006_2007insA	CCDS43062.1																																																																																				0.480	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		8	387						8	387	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.47		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		2	Substitution - Missense(1)|Whole gene deletion(1)	p.T495A(1)|p.0?(1)	ovary(1)|breast(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1483-1485)cccfs	Mismatch excision repair (MMR)	mutL homolog 1																																				SO:0001589	frameshift_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070348_37070349insC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1489dupC	3.37:g.37070354_37070354dupC	ENSP00000231790:p.Thr495fs		Somatic				MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs	p.P495fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	WXS	Illumina GAIIx	Phase_I	P40692	MLH1_HUMAN			13	1699_1700	+			495			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1483_1484insC	CCDS2663.1																																																																																				0.470	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		39	2329						39	2329	---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46580563	46580564	+	Frame_Shift_Ins	INS	-	-	T	rs150109562		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:46580563_46580564insT	ENST00000395905.3	-	4	853_854	c.461_462insA	c.(460-462)aacfs	p.N154fs	LRRC2_ENST00000296144.3_Frame_Shift_Ins_p.N154fs	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	154										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTGAGATTTGGTTTTTTGGCAG	0.436																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(460-462)acafs		leucine rich repeat containing 2																																				SO:0001589	frameshift_variant	79442							g.chr3:46580563_46580564insT	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.462dupA	3.37:g.46580569_46580569dupT	ENSP00000379241:p.Asn154fs		Somatic				LRRC2_ENST00000296144.3_Frame_Shift_Ins_p.T154fs	p.T154fs	NM_024512.4	NP_078788.2	WXS	Illumina GAIIx	Phase_I	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	4	853_854	-		Ovarian(412;0.0563)	154					B2RDQ7|Q96LT5	Frame_Shift_Ins	INS	ENST00000395905.3	37	c.461_462insA	CCDS2741.1																																																																																				0.436	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			7	615						7	615	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47084145	47084146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47084145_47084146insG	ENST00000409792.3	-	17	7185_7186	c.7143_7144insC	c.(7141-7146)ccctctfs	p.S2382fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2382					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.P2380fs(2)|p.P1877fs(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGGGAGGAGAGGGGGGCGGCA	0.426			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		4	Complex(4)	p.P2380fs(2)|p.P1877fs(2)	central_nervous_system(4)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(7141-7146)ccctccfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47084145_47084146insG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7144dupC	3.37:g.47084151_47084151dupG	ENSP00000386759:p.Ser2382fs		Somatic					p.S2382fs	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	17	7185_7186	-		Acute lymphoblastic leukemia(5;0.0169)	2382					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.7143_7144insC	CCDS2749.2																																																																																				0.426	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		10	421						10	421	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47161759	47161760	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47161759_47161760insCC	ENST00000409792.3	-	3	4408_4409	c.4366_4367insGG	c.(4366-4368)gacfs	p.D1456fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1456					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCGCTGTGGGTCCCTGAAGTCA	0.455			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4366-4368)cccfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161759_47161760insCC	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4365_4366dupGG	3.37:g.47161760_47161761dupCC	ENSP00000386759:p.Asp1456fs		Somatic					p.P1456fs	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4408_4409	-		Acute lymphoblastic leukemia(5;0.0169)	1456					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.4366_4367insGG	CCDS2749.2																																																																																				0.455	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		8	535						8	535	---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47957955	47957956	+	Frame_Shift_Ins	INS	-	-	G	rs144609522	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47957955_47957956insG	ENST00000360240.6	-	7	1879_1880	c.1361_1362insC	c.(1360-1362)ccgfs	p.P454fs	MAP4_ENST00000426837.2_Frame_Shift_Ins_p.P471fs|MAP4_ENST00000395734.3_Frame_Shift_Ins_p.P454fs|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	454	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CGTTGGTTTCCGGGGGCAGTGT	0.5																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1411-1413)cgafs		microtubule-associated protein 4																																				SO:0001589	frameshift_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47957955_47957956insG		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1362dupC	3.37:g.47957960_47957960dupG	ENSP00000353375:p.Pro454fs		Somatic				MAP4_ENST00000395734.3_Frame_Shift_Ins_p.R454fs|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Frame_Shift_Ins_p.R454fs	p.R471fs			WXS	Illumina GAIIx	Phase_I	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1499_1500	-			454			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Frame_Shift_Ins	INS	ENST00000360240.6	37	c.1412_1413insC	CCDS33750.1																																																																																				0.500	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		9	516						9	516	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48631051	48631052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:48631051_48631052insC	ENST00000328333.8	-	3	451_452	c.344_345insG	c.(343-345)ggcfs	p.G115fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.G115fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	115	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGAGTGTTGCCCCCCTTGTA	0.614																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CI023296	COL7A1	I		c.(343-345)gaafs		collagen, type VII, alpha 1																																				SO:0001589	frameshift_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48631051_48631052insC	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.345dupG	3.37:g.48631057_48631057dupC	ENSP00000332371:p.Gly115fs		Somatic				COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.E115fs	p.E115fs	NM_000094.3	NP_000085.1	WXS	Illumina GAIIx	Phase_I	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	3	451_452	-			115			Nonhelical region (NC1).|VWFA 1.		Q14054|Q16507	Frame_Shift_Ins	INS	ENST00000328333.8	37	c.344_345insG	CCDS2773.1																																																																																				0.614	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		8	709						8	709	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G	rs546326030	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000416649.2_Splice_Site|NCKIPSD_ENST00000341520.4_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGTGGTCTGGGGGGGACAA	0.569																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.e9-2		NCK interacting protein with SH3 domain																																				SO:0001630	splice_region_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716892_48716893insG	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1490-2->C	3.37:g.48716899_48716899dupG			Somatic				NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site		NM_016453.2	NP_057537.1	WXS	Illumina GAIIx	Phase_I	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	9	1609	-								B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Splice_Site	INS	ENST00000294129.2	37		CCDS2776.1																																																																																				0.569	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	Intron	19	543						19	543	---	---	---	---
IP6K2	51447	broad.mit.edu	37	3	48732640	48732641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:48732640_48732641insC	ENST00000328631.5	-	2	307_308	c.84_85insG	c.(82-87)gggcacfs	p.H29fs	IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.H87fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.H83fs|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000431721.2_Frame_Shift_Ins_p.H84fs|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.H88fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.H29fs	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	29					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGCATGAGTGCCCCCCGACCT	0.619																																						ENST00000431721.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(247-252)ggactcfs		inositol hexakisphosphate kinase 2																																				SO:0001589	frameshift_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732640_48732641insC	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.85dupG	3.37:g.48732646_48732646dupC	ENSP00000331103:p.His29fs		Somatic				IP6K2_ENST00000328631.5_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.L83fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.L88fs|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.L87fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.L29fs	p.L84fs	NM_001190316.1	NP_001177245.1	WXS	Illumina GAIIx	Phase_I	Q9UHH9	IP6K2_HUMAN			3	486_487	-			29					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Ins	INS	ENST00000328631.5	37	c.249_250insG	CCDS2777.1																																																																																				0.619	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		8	347						8	347	---	---	---	---
KLHDC8B	200942	broad.mit.edu	37	3	49210309	49210310	+	Frame_Shift_Ins	INS	-	-	G	rs559428069		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49210309_49210310insG	ENST00000332780.2	+	2	316_317	c.107_108insG	c.(106-111)ttggggfs	p.LG36fs	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	36						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTGGTGTTGGGGGGTTGTG	0.668																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(106-108)tggfs		kelch domain containing 8B																																				SO:0001589	frameshift_variant	200942					cytoplasm		g.chr3:49210309_49210310insG		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.113dupG	3.37:g.49210315_49210315dupG	ENSP00000327468:p.Leu36fs		Somatic				KLHDC8B_ENST00000476495.2_3'UTR	p.W36fs	NM_173546.2	NP_775817.1	WXS	Illumina GAIIx	Phase_I	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	316_317	+			36						Frame_Shift_Ins	INS	ENST00000332780.2	37	c.107_108insG	CCDS2791.1																																																																																				0.668	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		8	243						8	243	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49662667	49662668	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49662667_49662668insC	ENST00000296452.4	+	2	598_599	c.484_485insC	c.(484-486)gccfs	p.A162fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	162					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCTCAGATCGCCCCCCTTCCC	0.619																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(484-486)cccfs		bassoon presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49662667_49662668insC	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.490dupC	3.37:g.49662673_49662673dupC	ENSP00000296452:p.Ala162fs		Somatic					p.P162fs	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	2	598_599	+			162					O43161|Q7LGH3	Frame_Shift_Ins	INS	ENST00000296452.4	37	c.484_485insC	CCDS2800.1																																																																																				0.619	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		11	801						11	801	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49740082	49740083	+	Frame_Shift_Ins	INS	-	-	C	rs188127966		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49740082_49740083insC	ENST00000327697.6	+	20	1790_1791	c.1646_1647insC	c.(1645-1650)tgccccfs	p.CP549fs	RNF123_ENST00000432042.1_Frame_Shift_Ins_p.CP403fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	549					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCATGCTCTGCCCCCCTGAGT	0.55																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1645-1647)tccfs		ring finger protein 123																																				SO:0001589	frameshift_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49740082_49740083insC	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1652dupC	3.37:g.49740088_49740088dupC	ENSP00000328287:p.Cys549fs		Somatic				RNF123_ENST00000432042.1_Frame_Shift_Ins_p.S403fs	p.S549fs	NM_022064.3	NP_071347.2	WXS	Illumina GAIIx	Phase_I	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	20	1790_1791	+			549					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Ins	INS	ENST00000327697.6	37	c.1646_1647insC	CCDS33758.1																																																																																				0.550	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		9	933						9	933	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50311901	50311902	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50311901_50311902insG	ENST00000418948.1	+	0	1479_1480							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCCC	0.564											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B																																						7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311901_50311902insG	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311907_50311907dupG			Somatic	OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					WXS	Illumina GAIIx	Phase_I	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1479_1480	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	INS	ENST00000418948.1	37																																																																																						0.564	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		10	308						10	308	---	---	---	---
IFRD2	7866	broad.mit.edu	37	3	50325937	50325938	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50325937_50325938insG	ENST00000429673.2	-	11	1344		c.e11-2		IFRD2_ENST00000436390.1_Splice_Site|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000417626.2_Splice_Site			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2							nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATTGTTCTGGGGGGCAGAG	0.609																																						ENST00000436390.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.e14-2		interferon-related developmental regulator 2				0,4104		0,0,2052						5.9	1.0		dbSNP_130	61	1,8117		0,1,4058	no	splice-3	IFRD2	NM_006764.4		0,1,6110	A1A1,A1R,RR		0.0123,0.0,0.0082				1,12221				SO:0001630	splice_region_variant	7866						binding	g.chr3:50325937_50325938insG	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1345-2->C	3.37:g.50325943_50325943dupG			Somatic				IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000417626.2_Splice_Site|IFRD2_ENST00000429673.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	14	1650	-								Q9BVB4|Q9UJ88	Splice_Site	INS	ENST00000429673.2	37		CCDS46831.1																																																																																				0.609	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764	Intron	7	446						7	446	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)cagfs	p.Q488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1462-1464)gggfs		Vpr (HIV-1) binding protein																																				SO:0001589	frameshift_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457614_51457615insG	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1463dupC	3.37:g.51457621_51457621dupG	ENSP00000338857:p.Gln488fs		Somatic					p.G488fs			WXS	Illumina GAIIx	Phase_I	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1471_1472	-			937					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Frame_Shift_Ins	INS	ENST00000335891.5	37	c.1462_1463insC																																																																																					0.589	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		22	166						22	166	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52550782	52550782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:52550782delC	ENST00000321725.6	+	41	4437	c.4361delC	c.(4360-4362)tcafs	p.S1454fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1454	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATCTTCTGTTCAGGTCCAGCC	0.647																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4360-4362)tafs		stabilin 1							18.0	21.0	20.0					3																	52550782		2198	4295	6493	SO:0001589	frameshift_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52550782delC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4361delC	3.37:g.52550782delC	ENSP00000312946:p.Ser1454fs		Somatic					p.S1454fs	NM_015136.2	NP_055951.2	WXS	Illumina GAIIx	Phase_I	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	41	4437	+			1454			EGF-like 10.		A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	ENST00000321725.6	37	c.4361delC	CCDS33768.1																																																																																				0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	8						4	8	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(988-990)cccfs	p.P330fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	330					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(985-990)ctccccfs		interleukin 17 receptor B																																				SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898813_53898814insC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.993dupC	3.37:g.53898819_53898819dupC	ENSP00000288167:p.Pro330fs		Somatic					p.LP329fs	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	996_997	+			329					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Ins	INS	ENST00000288167.3	37	c.987_988insC	CCDS2874.1																																																																																				0.406	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		11	808						11	808	---	---	---	---
CCDC66	285331	broad.mit.edu	37	3	56598017	56598018	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:56598017_56598018insA	ENST00000394672.3	+	4	478_479	c.408_409insA	c.(409-411)aaafs	p.K137fs	CCDC66_ENST00000538560.1_Frame_Shift_Ins_p.K137fs|CCDC66_ENST00000326595.7_Frame_Shift_Ins_p.K103fs|CCDC66_ENST00000436465.2_Frame_Shift_Ins_p.K137fs|CCDC66_ENST00000442522.2_3'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	137					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAAGCCTCACAAAAAACACAT	0.386																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(406-411)caaaaafs		coiled-coil domain containing 66																																				SO:0001589	frameshift_variant	285331							g.chr3:56598017_56598018insA	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.414dupA	3.37:g.56598023_56598023dupA	ENSP00000378167:p.Lys137fs		Somatic				CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Frame_Shift_Ins_p.QK136fs|CCDC66_ENST00000538560.1_Frame_Shift_Ins_p.QK136fs|CCDC66_ENST00000326595.7_Frame_Shift_Ins_p.QK102fs	p.QK136fs	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	WXS	Illumina GAIIx	Phase_I	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	4	478_479	+			136					B3KWL8|Q4VC34|Q8N949	Frame_Shift_Ins	INS	ENST00000394672.3	37	c.408_409insA	CCDS46852.1																																																																																				0.386	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		8	184						8	184	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs		Somatic				KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	p.LG42fs	NM_153331.3	NP_699162.3	WXS	Illumina GAIIx	Phase_I	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		28	576						28	576	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:63981831_63981832insC	ENST00000295900.6	+	12	2883_2884	c.2333_2334insC	c.(2332-2337)ggccccfs	p.GP778fs	ATXN7_ENST00000398590.3_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.GP633fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.GP778fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2332-2334)gccfs		ataxin 7																																				SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981831_63981832insC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2340dupC	3.37:g.63981838_63981838dupC	ENSP00000295900:p.Gly778fs		Somatic				ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs	p.A778fs	NM_001177387.1	NP_001170858.1	WXS	Illumina GAIIx	Phase_I	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2886_2887	+		Prostate(884;0.0181)	778			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Ins	INS	ENST00000295900.6	37	c.2333_2334insC	CCDS43102.1																																																																																				0.545	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		9	196						9	196	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64132662	64132663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:64132662_64132663insG	ENST00000295902.6	-	7	2088_2089	c.1503_1504insC	c.(1501-1506)cccaaafs	p.K502fs	PRICKLE2_ENST00000564377.1_Frame_Shift_Ins_p.K558fs	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	502					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCCTCATATTTGGGGACTTGGA	0.54																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1501-1506)ccaatafs		prickle homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64132662_64132663insG	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1504dupC	3.37:g.64132666_64132666dupG	ENSP00000295902:p.Lys502fs		Somatic				PRICKLE2_ENST00000564377.1_Frame_Shift_Ins_p.I558fs	p.I502fs	NM_198859.3	NP_942559.1	WXS	Illumina GAIIx	Phase_I	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	2088_2089	-		Lung NSC(201;0.136)	502					Q0VF44	Frame_Shift_Ins	INS	ENST00000295902.6	37	c.1503_1504insC	CCDS2902.1																																																																																				0.540	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		8	821						8	821	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64532502	64532503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:64532502_64532503insG	ENST00000498707.1	-	32	5337_5338	c.4995_4996insC	c.(4993-4998)cccagtfs	p.S1666fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.S1638fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1666	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGCG	0.535																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4993-4998)ccgtgtfs		ADAM metallopeptidase with thrombospondin type 1 motif, 9																																				SO:0001589	frameshift_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64532502_64532503insG	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4996dupC	3.37:g.64532508_64532508dupG	ENSP00000418735:p.Ser1666fs		Somatic				ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.C1638fs	p.C1666fs	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	32	5337_5338	-		Lung NSC(201;0.00682)	1666			TSP type-1 14.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Frame_Shift_Ins	INS	ENST00000498707.1	37	c.4995_4996insC	CCDS2903.1																																																																																				0.535	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			7	619						7	619	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71027086	71027087	+	Frame_Shift_Ins	INS	-	-	G	rs534691598|rs79651000		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:71027086_71027087insG	ENST00000318789.4	-	15	1765_1766	c.1240_1241insC	c.(1240-1242)ctgfs	p.L414fs	FOXP1_ENST00000475937.1_Frame_Shift_Ins_p.L414fs|FOXP1_ENST00000491238.1_Frame_Shift_Ins_p.L416fs|FOXP1_ENST00000498215.1_Frame_Shift_Ins_p.L414fs|FOXP1_ENST00000484350.1_Frame_Shift_Ins_p.L338fs|FOXP1_ENST00000493089.1_Frame_Shift_Ins_p.L414fs|FOXP1_ENST00000468577.1_Frame_Shift_Ins_p.L414fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	414					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GACGGGAGTCAGGGGGGCGGTT	0.569			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1240-1242)gacfs		forkhead box P1																																				SO:0001589	frameshift_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71027086_71027087insG	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1241dupC	3.37:g.71027092_71027092dupG	ENSP00000318902:p.Leu414fs		Somatic				FOXP1_ENST00000475937.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000493089.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000498215.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000484350.1_Frame_Shift_Ins_p.D338fs|FOXP1_ENST00000468577.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000491238.1_Frame_Shift_Ins_p.D416fs	p.D414fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	WXS	Illumina GAIIx	Phase_I	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1765_1766	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	414					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Frame_Shift_Ins	INS	ENST00000318789.4	37	c.1240_1241insC	CCDS2914.1																																																																																				0.569	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		8	688						8	688	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggafs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(493-495)ggtfs		vestigial like 3 (Drosophila)																																				SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018182_87018183insC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.495dupG	3.37:g.87018188_87018188dupC	ENSP00000381436:p.Gly165fs		Somatic				VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	p.G165fs	NM_016206.2	NP_057290.2	WXS	Illumina GAIIx	Phase_I	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	857_858	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	165						Frame_Shift_Ins	INS	ENST00000398399.2	37	c.494_495insG	CCDS43110.1																																																																																				0.579	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		7	494						7	494	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101283790	101283791	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:101283790_101283791insC	ENST00000309922.6	+	2	319_320	c.165_166insC	c.(166-168)cccfs	p.P56fs		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	56			P -> R (in dbSNP:rs3762735). {ECO:0000269|PubMed:10508479}.		mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										ATGAGAGTACACCCCCTTCTGA	0.371																																						ENST00000309922.6																			0											c.(163-168)acccccfs		tRNA methyltransferase 10 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54931							g.chr3:101283790_101283791insC	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.170dupC	3.37:g.101283795_101283795dupC	ENSP00000312356:p.Pro56fs		Somatic					p.TP55fs	NM_017819.2	NP_060289.2	WXS	Illumina GAIIx	Phase_I					2	319_320	+								Q9NRG5|Q9NX54|Q9Y596	Frame_Shift_Ins	INS	ENST00000309922.6	37	c.165_166insC	CCDS43122.1																																																																																				0.371	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		7	620						7	620	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:118647520_118647521insG	ENST00000393775.2	-	3	564_565	c.259_260insC	c.(259-261)cggfs	p.R87fs	IGSF11_ENST00000354673.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.R87fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.R87fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.R86fs	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(256-258)gttfs		immunoglobulin superfamily, member 11																																				SO:0001589	frameshift_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118647520_118647521insG	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.260dupC	3.37:g.118647526_118647526dupG	ENSP00000377370:p.Arg87fs		Somatic				IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR	p.V86fs	NM_152538.2	NP_689751.2	WXS	Illumina GAIIx	Phase_I	Q5DX21	IGS11_HUMAN			5	636_637	-			87			Ig-like V-type.		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Frame_Shift_Ins	INS	ENST00000393775.2	37	c.256_257insC	CCDS46891.1																																																																																				0.465	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			12	699						12	699	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646676	124646677	+	Frame_Shift_Ins	INS	-	-	G	rs529131051		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:124646676_124646677insG	ENST00000311075.3	-	2	251_252	c.213_214insC	c.(211-216)cccatafs	p.I72fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	73	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.46																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(211-216)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646676_124646677insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.214dupC	3.37:g.124646682_124646682dupG	ENSP00000312235:p.Ile72fs		Somatic					p.N72fs	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			2	251_252	-			72			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.213_214insC																																																																																					0.460	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		10	1409						10	1409	---	---	---	---
PCCB	5096	broad.mit.edu	37	3	136046013	136046014	+	Frame_Shift_Ins	INS	-	-	G	rs191375566		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:136046013_136046014insG	ENST00000251654.4	+	12	1285_1286	c.1215_1216insG	c.(1216-1218)gggfs	p.G406fs	PCCB_ENST00000474833.1_Intron|PCCB_ENST00000466072.1_Frame_Shift_Ins_p.G426fs|PCCB_ENST00000483687.1_Frame_Shift_Ins_p.G387fs|PCCB_ENST00000482086.1_Frame_Shift_Ins_p.G290fs|PCCB_ENST00000462637.1_Frame_Shift_Ins_p.G383fs|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000471595.1_Frame_Shift_Ins_p.G406fs|PCCB_ENST00000490504.1_Frame_Shift_Ins_p.G349fs|PCCB_ENST00000469217.1_Frame_Shift_Ins_p.G426fs|PCCB_ENST00000468777.1_Frame_Shift_Ins_p.G437fs	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	406	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.G406R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CACAGGAATACGGGGGCATCAT	0.52																																						ENST00000471595.1																			1	Substitution - Missense(1)	p.G406R(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(1213-1218)taggggfs		propionyl CoA carboxylase, beta polypeptide	Biotin(DB00121)|L-Valine(DB00161)																																			SO:0001589	frameshift_variant	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136046013_136046014insG		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1220dupG	3.37:g.136046018_136046018dupG	ENSP00000251654:p.Gly406fs		Somatic				PCCB_ENST00000462637.1_Frame_Shift_Ins_p.*G382fs|PCCB_ENST00000466072.1_Frame_Shift_Ins_p.*G425fs|PCCB_ENST00000468777.1_Frame_Shift_Ins_p.*G436fs|PCCB_ENST00000483687.1_Frame_Shift_Ins_p.*G386fs|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000482086.1_Frame_Shift_Ins_p.*G289fs|PCCB_ENST00000490504.1_Frame_Shift_Ins_p.*G348fs|PCCB_ENST00000469217.1_Frame_Shift_Ins_p.*G425fs|PCCB_ENST00000251654.4_Frame_Shift_Ins_p.*G405fs|PCCB_ENST00000474833.1_Intron	p.*G405fs			WXS	Illumina GAIIx	Phase_I	P05166	PCCB_HUMAN			12	1233_1234	+			405			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Frame_Shift_Ins	INS	ENST00000251654.4	37	c.1215_1216insG	CCDS3089.1																																																																																				0.520	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			7	798						7	798	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G	rs199713806		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)cggfs	p.R604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.R50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.R604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAGGGCCTCCCGGGGGGGCAGT	0.465																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1810-1812)ggafs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta																																				SO:0001589	frameshift_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138413709_138413710insG		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1811dupC	3.37:g.138413716_138413716dupG	ENSP00000418143:p.Arg604fs		Somatic				PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs	p.G604fs			WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			13	1883_1884	-			604			PI3K helical.		D3DNF0|Q24JU2	Frame_Shift_Ins	INS	ENST00000477593.1	37	c.1810_1811insC	CCDS3104.1																																																																																				0.465	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			8	94						8	94	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs		Somatic					p.G493fs	NM_139209.2	NP_631948.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		28	861						28	861	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151095831	151095832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:151095831_151095832insC	ENST00000474524.1	+	29	4281_4282	c.4243_4244insC	c.(4243-4245)gccfs	p.A1415fs	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Frame_Shift_Ins_p.A1275fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1415						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)			ATGGTTGGTGGCCCCCCTCATC	0.52																																						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.(4243-4245)cccfs		mediator complex subunit 12-like																																				SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151095831_151095832insC	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.4249dupC	3.37:g.151095837_151095837dupC	ENSP00000417235:p.Ala1415fs		Somatic				P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Frame_Shift_Ins_p.P1275fs	p.P1415fs	NM_053002.4	NP_443728.3	WXS	Illumina GAIIx	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		29	4281_4282	+			1415					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Ins	INS	ENST00000474524.1	37	c.4243_4244insC	CCDS33876.1																																																																																				0.520	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		10	950						10	950	---	---	---	---
MME	4311	broad.mit.edu	37	3	154884713	154884714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:154884713_154884714insC	ENST00000460393.1	+	18	1803_1804	c.1683_1684insC	c.(1684-1686)cccfs	p.P562fs	MME_ENST00000360490.2_Frame_Shift_Ins_p.P562fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.P562fs|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Frame_Shift_Ins_p.P562fs|MME_ENST00000492661.1_Frame_Shift_Ins_p.P562fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	562					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCATTCTGCAGCCCCCCTTCTT	0.446																																						ENST00000460393.1																			1	Substitution - Missense(1)	p.Q561H(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1681-1686)caccccfs		membrane metallo-endopeptidase	Candoxatril(DB00616)																																			SO:0001589	frameshift_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884713_154884714insC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1689dupC	3.37:g.154884719_154884719dupC	ENSP00000418525:p.Pro562fs		Somatic				MME_ENST00000492661.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000360490.2_Frame_Shift_Ins_p.HP561fs|MME-AS1_ENST00000484721.1_RNA	p.HP561fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	WXS	Illumina GAIIx	Phase_I	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1803_1804	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	561					A8K6U6|D3DNJ9|Q3MIX4	Frame_Shift_Ins	INS	ENST00000460393.1	37	c.1683_1684insC	CCDS3172.1																																																																																				0.446	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		10	319						10	319	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs		Somatic				SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	WXS	Illumina GAIIx	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		9	741						9	741	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3162)gtccccfs	p.VP1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.VP1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.VP1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.47																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3157-3159)gccfs		fibronectin type III domain containing 3B																																				SO:0001589	frameshift_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096209_172096210insC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3165dupC	3.37:g.172096216_172096216dupC	ENSP00000338523:p.Val1053fs		Somatic				FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs	p.A1053fs	NM_001135095.1	NP_001128567.1	WXS	Illumina GAIIx	Phase_I	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3257_3258	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1053					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	ENST00000336824.4	37	c.3158_3159insC	CCDS3217.1																																																																																				0.470	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		20	346						20	346	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(757-759)catfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs		Somatic				ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	p.H253fs	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	997_998	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		8	513						8	513	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)accfs	p.T305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGCCAGTGGCACCCCCCTCATC	0.584																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic																																				SO:0001589	frameshift_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777416_183777417insC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.919dupC	3.37:g.183777422_183777422dupC	ENSP00000322617:p.Thr305fs		Somatic					p.P305fs	NM_130770.2	NP_570126.2	WXS	Illumina GAIIx	Phase_I	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	947_948	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		305					A2RRR5	Frame_Shift_Ins	INS	ENST00000318351.1	37	c.913_914insC	CCDS3250.1																																																																																				0.584	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		7	1072						7	1072	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)accfs	p.T305fs	HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.T290fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.T331fs|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.T305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.T320fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CACCAGTGGCACCCCCCTCATC	0.54																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic																																				SO:0001589	frameshift_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823745_183823746insC	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.919dupC	3.37:g.183823751_183823751dupC	ENSP00000401444:p.Thr305fs		Somatic				HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs	p.P305fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	WXS	Illumina GAIIx	Phase_I	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1379_1380	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		305					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Frame_Shift_Ins	INS	ENST00000415389.2	37	c.913_914insC	CCDS58868.1																																																																																				0.540	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		16	1822						16	1822	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184008355	184008356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:184008355_184008356insC	ENST00000402825.3	+	15	2020_2021	c.2020_2021insC	c.(2020-2022)accfs	p.T674fs	ECE2_ENST00000357474.5_Frame_Shift_Ins_p.T602fs|ECE2_ENST00000404464.3_Frame_Shift_Ins_p.T556fs|ECE2_ENST00000359140.4_Frame_Shift_Ins_p.T527fs|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	674	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGCATGACCCCCCAGACA	0.609																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(2020-2022)cccfs		endothelin converting enzyme 2																																				SO:0001589	frameshift_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008355_184008356insC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2026dupC	3.37:g.184008361_184008361dupC	ENSP00000384223:p.Thr674fs		Somatic				ECE2_ENST00000359140.4_Frame_Shift_Ins_p.P527fs|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Frame_Shift_Ins_p.P556fs|ECE2_ENST00000357474.5_Frame_Shift_Ins_p.P602fs	p.P674fs	NM_014693.3	NP_055508.3	WXS	Illumina GAIIx	Phase_I	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	2020_2021	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		674			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Frame_Shift_Ins	INS	ENST00000402825.3	37	c.2020_2021insC	CCDS3256.2																																																																																				0.609	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		8	680						8	680	---	---	---	---
AHSG	197	broad.mit.edu	37	3	186338423	186338424	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:186338423_186338424insC	ENST00000273784.5	+	7	887_888	c.811_812insC	c.(811-813)acafs	p.T271fs	AHSG_ENST00000411641.2_Frame_Shift_Ins_p.T270fs	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	270					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AGCAGTCCCCACACCCGTGGTG	0.599																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(808-810)accfs		alpha-2-HS-glycoprotein																																				SO:0001589	frameshift_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338423_186338424insC	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.812dupC	3.37:g.186338424_186338424dupC	ENSP00000273784:p.Thr271fs		Somatic				AHSG_ENST00000273784.5_Frame_Shift_Ins_p.T271fs	p.T270fs			WXS	Illumina GAIIx	Phase_I	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1027_1028	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		270					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Frame_Shift_Ins	INS	ENST00000273784.5	37	c.808_809insC																																																																																					0.599	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		8	1246						8	1246	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362543	186362544	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:186362543_186362544insA	ENST00000265029.3	+	4	529_530	c.428_429insA	c.(427-432)tcaaaafs	p.SK143fs	FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.SK78fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.SK143fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.SK106fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					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)			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)		TCAACAGTTTCAAAAAAAAAGA	0.421																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)taafs		fetuin B				0,4266		0,0,2133						3.5	0.8			88	1,8253		0,1,4126	no	frameshift	FETUB	NM_014375.2		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362543_186362544insA	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.437dupA	3.37:g.186362552_186362552dupA	ENSP00000265029:p.Ser143fs		Somatic				FETUB_ENST00000450521.1_Frame_Shift_Ins_p.*143fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.*78fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.*106fs|RP11-134F2.2_ENST00000428501.1_RNA	p.*143fs	NM_014375.2	NP_055190.2	WXS	Illumina GAIIx	Phase_I	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	529_530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Ins	INS	ENST00000265029.3	37	c.428_429insA	CCDS3279.1																																																																																				0.421	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		10	276						10	276	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187446269	187446270	+	Frame_Shift_Ins	INS	-	-	G	rs149258247		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:187446269_187446270insG	ENST00000406870.2	-	6	1784_1785	c.1418_1419insC	c.(1417-1419)ccgfs	p.P473fs	BCL6_ENST00000232014.4_Frame_Shift_Ins_p.P473fs|BCL6_ENST00000450123.2_Frame_Shift_Ins_p.P473fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	473					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P473L(1)|p.K474fs*26(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACGTGCACTTCGGGGGGTGCAT	0.629			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.P473L(1)|p.K474fs*26(1)	large_intestine(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1417-1419)caafs		B-cell CLL/lymphoma 6																																				SO:0001589	frameshift_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187446269_187446270insG		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1419dupC	3.37:g.187446275_187446275dupG	ENSP00000384371:p.Pro473fs		Somatic				BCL6_ENST00000450123.2_Frame_Shift_Ins_p.Q473fs|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Ins_p.Q473fs	p.Q473fs	NM_001706.4	NP_001697.2	WXS	Illumina GAIIx	Phase_I	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	6	1784_1785	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		473					A7E241|B8PSA7|D3DNV5	Frame_Shift_Ins	INS	ENST00000406870.2	37	c.1418_1419insC	CCDS3289.1																																																																																				0.629	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		11	203						11	203	---	---	---	---
ACAP2	23527	broad.mit.edu	37	3	195013093	195013094	+	Frame_Shift_Ins	INS	-	-	T	rs112375796	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:195013093_195013094insT	ENST00000326793.6	-	19	2083_2084	c.1853_1854insA	c.(1852-1854)aacfs	p.N618fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	618					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTTAGGAAGGTTTTTTTCATA	0.431																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1852-1854)actfs		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2																																				SO:0001589	frameshift_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195013093_195013094insT		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1854dupA	3.37:g.195013100_195013100dupT	ENSP00000324287:p.Asn618fs		Somatic					p.T618fs	NM_012287.5	NP_036419.3	WXS	Illumina GAIIx	Phase_I	Q15057	ACAP2_HUMAN			19	2083_2084	-			618					A8K2V4|Q8N5Z8|Q9UQR3	Frame_Shift_Ins	INS	ENST00000326793.6	37	c.1853_1854insA	CCDS33924.1																																																																																				0.431	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		15	680						15	680	---	---	---	---
PAK2	5062	broad.mit.edu	37	3	196541367	196541368	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:196541367_196541368insG	ENST00000327134.3	+	11	1303_1304	c.981_982insG	c.(982-984)gggfs	p.G328fs		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATACCTTGCTGGGGGGTCACT	0.411																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(979-984)gcggggfs		p21 protein (Cdc42/Rac)-activated kinase 2																																				SO:0001589	frameshift_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196541367_196541368insG	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.987dupG	3.37:g.196541373_196541373dupG	ENSP00000314067:p.Gly328fs		Somatic					p.AG327fs	NM_002577.4	NP_002568.2	WXS	Illumina GAIIx	Phase_I	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	11	1303_1304	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		327			Protein kinase.		Q13154|Q6ISC3	Frame_Shift_Ins	INS	ENST00000327134.3	37	c.981_982insG	CCDS3321.1																																																																																				0.411	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		7	508						7	508	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:197427914_197427915insG	ENST00000296343.5	-	7	829_830	c.830_831insC	c.(829-831)ccafs	p.P277fs	KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.P277fs|KIAA0226_ENST00000273582.5_Frame_Shift_Ins_p.P217fs|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.P277fs	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(649-651)cgtfs		KIAA0226																																				SO:0001589	frameshift_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427914_197427915insG	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.831dupC	3.37:g.197427921_197427921dupG	ENSP00000296343:p.Pro277fs		Somatic				KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs	p.R217fs	NM_001145642.2	NP_001139114.1	WXS	Illumina GAIIx	Phase_I	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1195_1196	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		277			Ser-rich.		Q96CK5	Frame_Shift_Ins	INS	ENST00000296343.5	37	c.650_651insC	CCDS43195.1																																																																																				0.554	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		8	250						8	250	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs		Somatic					p.R145fs	NM_012318.2	NP_036450.1	WXS	Illumina GAIIx	Phase_I	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			31	140						31	140	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1980558	1980559	+	Frame_Shift_Ins	INS	-	-	C	rs199956960		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:1980558_1980559insC	ENST00000382895.3	+	24	4451_4452	c.4020_4021insC	c.(4021-4023)cccfs	p.P1341fs	WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.P689fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.P1341fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1341					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACTGAGAAGCCCCCCCCAGA	0.678			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(4018-4023)aaccccfs		Wolf-Hirschhorn syndrome candidate 1			,,,	38,4226		0,38,2094					,,,	-5.1	0.6		dbSNP_126	23	49,8203		0,49,4077	no	frameshift,frameshift,frameshift,frameshift	WHSC1	NM_133335.3,NM_133331.2,NM_133330.2,NM_001042424.2	,,,	0,87,6171	A1A1,A1R,RR		0.5938,0.8912,0.6951	,,,	,,,		87,12429				SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1980558_1980559insC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.4028dupC	4.37:g.1980566_1980566dupC	ENSP00000372351:p.Pro1341fs		Somatic				WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000482415.2_3'UTR	p.NP1340fs	NM_133330.2	NP_579877.1	WXS	Illumina GAIIx	Phase_I	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	24	4451_4452	+		all_epithelial(65;1.34e-05)	1340					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	ENST00000382895.3	37	c.4020_4021insC	CCDS33940.1																																																																																				0.678	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		9	48						9	48	---	---	---	---
CRMP1	1400	broad.mit.edu	37	4	5827251	5827253	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:5827251_5827253delTTC	ENST00000397890.2	-	13	1809_1811	c.1595_1597delGAA	c.(1594-1599)agaaac>aac	p.R532del	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_In_Frame_Del_p.R530del|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000324989.7_In_Frame_Del_p.R646del	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	532					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGGTGGAGGTTTCTGATGGGTGG	0.542																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1936-1941)aac>a		collapsin response mediator protein 1																																				SO:0001651	inframe_deletion	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5827251_5827253delTTC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1595_1597delGAA	4.37:g.5827251_5827253delTTC	ENSP00000380987:p.Arg532del		Somatic				CRMP1_ENST00000512574.1_In_Frame_Del_p.RN530del|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000397890.2_In_Frame_Del_p.RN532del|CRMP1_ENST00000511535.1_5'UTR	p.RN646del	NM_001014809.1	NP_001014809.1	WXS	Illumina GAIIx	Phase_I	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	13	2025_2027	-			532					A0EJG6|Q13024|Q4W5F1|Q96TC8	In_Frame_Del	DEL	ENST00000397890.2	37	c.1937_1939delGAA	CCDS43207.1																																																																																				0.542	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		114	610						114	610	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22729241	22729242	+	RNA	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:22729241_22729242insA	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCAACAAGCAAAAAAGGAGT	0.421																																						ENST00000508166.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)																																						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729241_22729242insA	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729247_22729247dupA			Somatic				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA		NM_020973.4	NP_066024.1	WXS	Illumina GAIIx	Phase_I	Q9H227	GBA3_HUMAN			0	160	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	INS	ENST00000503442.1	37																																																																																						0.421	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			10	749						10	749	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)cccfs		Kruppel-like factor 3 (basic)																																				SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691475_38691476insC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.677dupC	4.37:g.38691482_38691482dupC	ENSP00000261438:p.Ser224fs		Somatic				KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	p.P224fs	NM_016531.5	NP_057615.3	WXS	Illumina GAIIx	Phase_I	P57682	KLF3_HUMAN			4	975_976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Ins	INS	ENST00000261438.5	37	c.670_671insC	CCDS3444.1																																																																																				0.426	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			23	718						23	718	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68919689	68919690	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:68919689_68919690insT	ENST00000356291.2	-	10	1313_1314	c.1254_1255insA	c.(1252-1257)aaacctfs	p.P419fs	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	419	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TAGACTCCAGGTTTTTTGGGAA	0.431																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(1252-1257)aactggfs		transmembrane protease, serine 11F																																				SO:0001589	frameshift_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68919689_68919690insT	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1255dupA	4.37:g.68919695_68919695dupT	ENSP00000348639:p.Pro419fs		Somatic				RP11-453E17.1_ENST00000500538.2_RNA	p.NW418fs	NM_207407.2	NP_997290.2	WXS	Illumina GAIIx	Phase_I	Q6ZWK6	TM11F_HUMAN			10	1313_1314	-			418			Peptidase S1.		A8MXX2	Frame_Shift_Ins	INS	ENST00000356291.2	37	c.1254_1255insA	CCDS3520.1																																																																																				0.431	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		7	354						7	354	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs		Somatic				FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			7	168						7	168	---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82363491	82363492	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:82363491_82363492insT	ENST00000264400.2	-	9	1118_1119	c.967_968insA	c.(967-969)actfs	p.T323fs	RASGEF1B_ENST00000509081.1_Frame_Shift_Ins_p.T322fs|RASGEF1B_ENST00000335927.7_Frame_Shift_Ins_p.T281fs	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	323	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTTGGCCCAAGTTTTTTTTAGT	0.381																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(964-966)ttgfs		RasGEF domain family, member 1B																																				SO:0001589	frameshift_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82363491_82363492insT	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.968dupA	4.37:g.82363499_82363499dupT	ENSP00000264400:p.Thr323fs		Somatic				RASGEF1B_ENST00000264400.2_Frame_Shift_Ins_p.L323fs|RASGEF1B_ENST00000335927.7_Frame_Shift_Ins_p.L281fs	p.L322fs			WXS	Illumina GAIIx	Phase_I	Q0VAM2	RGF1B_HUMAN			9	1185_1186	-			323			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Frame_Shift_Ins	INS	ENST00000264400.2	37	c.964_965insA	CCDS34022.1																																																																																				0.381	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		8	235						8	235	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85752731	85752731	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:85752731delA	ENST00000295888.4	-	8	1011	c.604delT	c.(604-606)tccfs	p.S202fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.S202fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	202					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCGCAGGGGAAACAAAACTG	0.388																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(604-606)ccfs		WD repeat and FYVE domain containing 3							68.0	71.0	70.0					4																	85752731		2203	4300	6503	SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85752731delA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.604delT	4.37:g.85752731delA	ENSP00000295888:p.Ser202fs		Somatic				WDFY3_ENST00000295888.4_Frame_Shift_Del_p.S202fs	p.S202fs			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	8	1011	-		Hepatocellular(203;0.114)	202					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.604delT	CCDS3609.1																																																																																				0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		7	136						7	136	---	---	---	---
SLC10A6	345274	broad.mit.edu	37	4	87769942	87769943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:87769942_87769943insC	ENST00000273905.6	-	1	473_474	c.326_327insG	c.(325-327)ggcfs	p.G109fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	109					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGCA	0.505																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(325-327)gacfs		solute carrier family 10 (sodium/bile acid cotransporter), member 6																																				SO:0001589	frameshift_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87769942_87769943insC	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.327dupG	4.37:g.87769948_87769948dupC	ENSP00000273905:p.Gly109fs		Somatic				SLC10A6_ENST00000505535.1_5'UTR	p.D109fs	NM_197965.2	NP_932069.1	WXS	Illumina GAIIx	Phase_I	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	473_474	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	109					Q70EX7	Frame_Shift_Ins	INS	ENST00000273905.6	37	c.326_327insG	CCDS3614.1																																																																																				0.505	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		8	300						8	300	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)cagfs	p.Q860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2578-2580)gacfs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091356_96091357insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2579dupC	4.37:g.96091362_96091362dupG	ENSP00000406022:p.Gln860fs		Somatic					p.D860fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2926_2927	-		Hepatocellular(203;0.114)	860			Death.		Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.2578_2579insC	CCDS3643.1																																																																																				0.599	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		10	490						10	490	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs		Somatic				UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		24	811						24	811	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.R3421fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3454					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455																																						ENST00000357077.4																			1	Insertion - Frameshift(1)	p.T3457fs*8(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10360-10362)gggfs		ankyrin 2, neuronal																																				SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280134_114280135insG	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10367dupG	4.37:g.114280141_114280141dupG	ENSP00000349588:p.Arg3454fs		Somatic				ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	p.G3454fs	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10413_10414	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3421					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	c.10360_10361insG	CCDS3702.1																																																																																				0.455	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	250						13	250	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)gggaaafs	p.K1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.K1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3811-3816)ggaatcfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125590618_125590619insC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3814dupG	4.37:g.125590624_125590624dupC	ENSP00000425658:p.Lys1272fs		Somatic				ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	p.I1272fs	NM_020337.2	NP_065070.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ7	ANR50_HUMAN			4	4850_4851	-			1272			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.3813_3814insG	CCDS34060.1																																																																																				0.391	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		8	397						8	397	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072550	134072551	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:134072550_134072551insC	ENST00000264360.5	+	1	2081_2082	c.1255_1256insC	c.(1255-1257)gccfs	p.A419fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGTTACCGAAGCCCCCCTGGAC	0.594																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1255-1257)cccfs		protocadherin 10																																				SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072550_134072551insC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1261dupC	4.37:g.134072556_134072556dupC	ENSP00000264360:p.Ala419fs		Somatic					p.P419fs	NM_032961.1	NP_116586.1	WXS	Illumina GAIIx	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2081_2082	+			419			Cadherin 4.		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	c.1255_1256insC	CCDS34063.1																																																																																				0.594	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	1536						10	1536	---	---	---	---
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	-	G	rs368140697		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:140432891_140432892insG	ENST00000274031.3	-	8	1662_1663	c.1026_1027insC	c.(1024-1029)cccgggfs	p.G343fs	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	343					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTGT	0.609																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(1024-1029)ccggaafs		SET domain containing (lysine methyltransferase) 7																																				SO:0001589	frameshift_variant	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140432891_140432892insG	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.1027dupC	4.37:g.140432898_140432898dupG	ENSP00000274031:p.Gly343fs		Somatic				SETD7_ENST00000506866.2_Intron	p.E343fs	NM_030648.2	NP_085151.1	WXS	Illumina GAIIx	Phase_I	Q8WTS6	SETD7_HUMAN			8	1662_1663	-	all_hematologic(180;0.156)		343					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Frame_Shift_Ins	INS	ENST00000274031.3	37	c.1026_1027insC	CCDS3748.1																																																																																				0.609	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		12	265						12	265	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:144381536_144381537insC	ENST00000262994.4	+	8	2001_2002	c.1699_1700insC	c.(1699-1701)tccfs	p.S567fs	GAB1_ENST00000262995.4_Frame_Shift_Ins_p.S597fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.S464fs	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1789-1791)cccfs		GRB2-associated binding protein 1																																				SO:0001589	frameshift_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381536_144381537insC	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1705dupC	4.37:g.144381542_144381542dupC	ENSP00000262994:p.Ser567fs		Somatic				GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	p.P597fs	NM_207123.2	NP_997006.1	WXS	Illumina GAIIx	Phase_I	Q13480	GAB1_HUMAN			9	2216_2217	+	all_hematologic(180;0.158)		567					A8K152|Q4W5G2|Q6P1W2	Frame_Shift_Ins	INS	ENST00000262994.4	37	c.1789_1790insC	CCDS3759.1																																																																																				0.406	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		11	444						11	444	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)ggcfs		fibrinogen gamma chain	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs		Somatic				FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	p.G430fs	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			9	1528_1529	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		11	560						11	560	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs		Somatic				TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		11	967						11	967	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190876218	190876219	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:190876218_190876219insAT	ENST00000226798.4	+	5	566_567	c.344_345insAT	c.(343-348)aaatatfs	p.KY115fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	115					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTATGGAAAATATCTTGGTA	0.361																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(343-345)atafs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876218_190876219insAT	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.347_348dupAT	4.37:g.190876221_190876222dupAT	ENSP00000226798:p.Lys115fs		Somatic				FRG1_ENST00000514482.1_3'UTR	p.I115fs	NM_004477.2	NP_004468.1	WXS	Illumina GAIIx	Phase_I	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	566_567	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	115					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.344_345insAT	CCDS34121.1																																																																																				0.361	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	131						8	131	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						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.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	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.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			21	486						21	486	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-36)atggggfs	p.MG11fs	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG11fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCCCAAGATGGGGGGCAGGA	0.455																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(31-33)aggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608557_36608558insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.38dupG	5.37:g.36608563_36608563dupG	ENSP00000265113:p.Met11fs		Somatic				SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs	p.R11fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	508_509	+	all_lung(31;0.000245)		11					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.32_33insG	CCDS3919.1																																																																																				0.455	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		11	464						11	464	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		27	975						27	975	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39203039	39203040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:39203039_39203040insC	ENST00000351578.6	-	2	213_214	c.23_24insG	c.(22-24)ggcfs	p.G8fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.G8fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.G18fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.G8fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.G8fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	8					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGTT	0.446																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(22-24)gaafs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39203039_39203040insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.24dupG	5.37:g.39203045_39203045dupC	ENSP00000316460:p.Gly8fs		Somatic				FYB_ENST00000540520.1_Frame_Shift_Ins_p.E18fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.E8fs	p.E8fs	NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	213_214	-	all_lung(31;0.000343)		8					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.23_24insG	CCDS47200.1																																																																																				0.446	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		8	402						8	402	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs		Somatic				MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs	p.*85fs			WXS	Illumina GAIIx	Phase_I	O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		19	331						19	331	---	---	---	---
OCLN	100506658	broad.mit.edu	37	5	68809915	68809916	+	Frame_Shift_Ins	INS	-	-	C	rs373344533		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:68809915_68809916insC	ENST00000355237.2	+	4	1306_1307	c.870_871insC	c.(871-873)cccfs	p.P291fs	OCLN_ENST00000538151.1_Frame_Shift_Ins_p.P40fs|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.P291fs|OCLN_ENST00000380766.2_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	291					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGATGAGCAGCCCCCCAATGT	0.347																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(868-873)caccccfs		occludin																																				SO:0001589	frameshift_variant	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68809915_68809916insC	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.876dupC	5.37:g.68809921_68809921dupC	ENSP00000347379:p.Pro291fs		Somatic				OCLN_ENST00000380766.2_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs|OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs	p.HP290fs	NM_002538.3	NP_002529.1	WXS	Illumina GAIIx	Phase_I	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1306_1307	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	290					B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Frame_Shift_Ins	INS	ENST00000355237.2	37	c.870_871insC	CCDS4006.1																																																																																				0.347	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		14	495						14	495	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71492990	71492991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:71492990_71492991insC	ENST00000296755.7	+	5	4106_4107	c.3808_3809insC	c.(3808-3810)accfs	p.T1270fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1270					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTAGAAAAGACCCCCCTGGGT	0.515																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3808-3810)cccfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492990_71492991insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3814dupC	5.37:g.71492996_71492996dupC	ENSP00000296755:p.Thr1270fs		Somatic					p.P1270fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4106_4107	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1270					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.3808_3809insC	CCDS4012.1																																																																																				0.515	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		10	992						10	992	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		19	363						19	363	---	---	---	---
ENC1	8507	broad.mit.edu	37	5	73931269	73931270	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:73931269_73931270insC	ENST00000302351.4	-	2	2171_2172	c.1041_1042insG	c.(1039-1044)gggcggfs	p.R348fs	ENC1_ENST00000510316.1_Frame_Shift_Ins_p.R275fs|ENC1_ENST00000537006.1_Frame_Shift_Ins_p.R348fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	348					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCAGACCCCCGCCCCCCAGTAA	0.53																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1039-1044)ggggggfs		ectodermal-neural cortex 1 (with BTB domain)																																				SO:0001589	frameshift_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931269_73931270insC	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1042dupG	5.37:g.73931275_73931275dupC	ENSP00000306356:p.Arg348fs		Somatic				ENC1_ENST00000537006.1_Frame_Shift_Ins_p.GG347fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.GG274fs	p.GG347fs	NM_003633.3	NP_003624.1	WXS	Illumina GAIIx	Phase_I	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2171_2172	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	347					B4DHJ1|E9PFU0|O75464|Q9UPG9	Frame_Shift_Ins	INS	ENST00000302351.4	37	c.1041_1042insG	CCDS4021.1																																																																																				0.530	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		14	743						14	743	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		15	139						15	139	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89943433	89943434	+	Frame_Shift_Del	DEL	AA	AA	-	rs950692	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:89943433_89943434delAA	ENST00000405460.2	+	17	3237_3238	c.3141_3142delAA	c.(3139-3144)gcaagafs	p.R1048fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1048	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGCTACTGCAAGAGAGAGAGA	0.416																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3139-3144)gcgafs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943433_89943434delAA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3141_3142delAA	5.37:g.89943433_89943434delAA	ENSP00000384582:p.Arg1048fs		Somatic					p.AR1047fs	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3237_3238	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1047					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	ENST00000405460.2	37	c.3141_3142delAA	CCDS47246.1																																																																																				0.416	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	441						7	441	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggcgtfs	p.R312fs	PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.R265fs|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCCCTGACGCCCCCCGTTTC	0.53																																						ENST00000311106.3																			1	Substitution - Missense(1)	p.R312C(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(931-936)gggtcafs		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746639_95746640insC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.934dupG	5.37:g.95746645_95746645dupC	ENSP00000308024:p.Arg312fs		Somatic				PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	p.S312fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1170_1171	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Frame_Shift_Ins	INS	ENST00000311106.3	37	c.933_934insG	CCDS4081.1																																																																																				0.530	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		9	573						9	573	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2635-2640)ccaagtfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs		Somatic				SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs	p.S880fs	NM_020796.3	NP_065847.1	WXS	Illumina GAIIx	Phase_I	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3424_3425	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	880					Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		9	417						9	417	---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118969956	118969957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:118969956_118969957insC	ENST00000515256.1	+	3	685_686	c.513_514insC	c.(514-516)cccfs	p.P172fs				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	172					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GGGTAGGTACTCCCCCCTCTGA	0.54																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(511-516)acccccfs		family with sequence similarity 170, member A																																				SO:0001589	frameshift_variant	340069					intracellular	zinc ion binding	g.chr5:118969956_118969957insC	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.519dupC	5.37:g.118969962_118969962dupC	ENSP00000422684:p.Pro172fs		Somatic					p.TP171fs			WXS	Illumina GAIIx	Phase_I	A1A519	F170A_HUMAN			3	685_686	+			171					Q66LM8|Q7Z4V2|Q8IW94	Frame_Shift_Ins	INS	ENST00000515256.1	37	c.513_514insC																																																																																					0.540	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		9	287						9	287	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	715						9	715	---	---	---	---
PDLIM4	8572	broad.mit.edu	37	5	131606778	131606779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:131606778_131606779insC	ENST00000253754.3	+	4	562_563	c.498_499insC	c.(499-501)cccfs	p.P167fs	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.P167fs|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	167							zinc ion binding (GO:0008270)	p.S169fs*50(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCCACCCCCCAGGTA	0.589																																						ENST00000253754.3																			1	Deletion - Frameshift(1)	p.S169fs*50(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10						c.(496-501)ccccccfs		PDZ and LIM domain 4																																				SO:0001589	frameshift_variant	8572						protein binding|zinc ion binding	g.chr5:131606778_131606779insC	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.504dupC	5.37:g.131606784_131606784dupC	ENSP00000253754:p.Pro167fs		Somatic				PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.PP166fs|P4HA2_ENST00000471826.1_Intron	p.PP166fs	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	WXS	Illumina GAIIx	Phase_I	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	562_563	+			166					B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Frame_Shift_Ins	INS	ENST00000253754.3	37	c.498_499insC	CCDS4152.1																																																																																				0.589	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		7	692						7	692	---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132052654	132052655	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:132052654_132052655insAG	ENST00000378746.4	-	6	856_857	c.638_639insCT	c.(637-639)atgfs	p.M213fs	KIF3A_ENST00000378735.1_Frame_Shift_Ins_p.M213fs|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Frame_Shift_Ins_p.M213fs	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGTTCGTTCATATTAGTTGC	0.356																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(637-639)aaafs		kinesin family member 3A																																				SO:0001589	frameshift_variant	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132052654_132052655insAG	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.638_639insCT	5.37:g.132052654_132052655insAG	ENSP00000368020:p.Met213fs		Somatic				AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Frame_Shift_Ins_p.K213fs|KIF3A_ENST00000378735.1_Frame_Shift_Ins_p.K213fs	p.K213fs	NM_007054.5	NP_008985.3	WXS	Illumina GAIIx	Phase_I	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	856_857	-		all_cancers(142;0.0751)|Breast(839;0.198)	213			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Frame_Shift_Ins	INS	ENST00000378746.4	37	c.638_639insCT	CCDS34235.1																																																																																				0.356	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		29	306						29	306	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)gggaccfs	p.T834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584																																						ENST00000265342.7																			1	Deletion - Frameshift(1)	p.T834fs*>9(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2497-2502)ggccacfs		follistatin-like 4																																				SO:0001589	frameshift_variant	23105					extracellular region	calcium ion binding	g.chr5:132534816_132534817insC	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2500dupG	5.37:g.132534823_132534823dupC	ENSP00000265342:p.Thr834fs		Somatic				CTB-49A3.2_ENST00000509051.1_RNA	p.H834fs	NM_015082.1	NP_055897.1	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2748_2749	-		all_cancers(142;0.244)	834					Q8TBU0|Q9UPU1	Frame_Shift_Ins	INS	ENST00000265342.7	37	c.2499_2500insG	CCDS34238.1																																																																																				0.584	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		7	248						7	248	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(454-459)caccccfs		transcription factor 7 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs		Somatic				TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs	p.HP152fs			WXS	Illumina GAIIx	Phase_I	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	651_652	+		Breast(839;0.058)	152					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		23	363						23	363	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2902-2904)cccfs	p.P968fs	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	968					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2899-2904)caccccfs		SEC24 family member A																																				SO:0001589	frameshift_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134053794_134053795insC	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2907dupC	5.37:g.134053800_134053800dupC	ENSP00000381823:p.Pro968fs		Somatic					p.HP967fs	NM_021982.2	NP_068817.1	WXS	Illumina GAIIx	Phase_I	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		20	3189_3190	+			967					A8MVW3|Q8WUV2|Q96GP7	Frame_Shift_Ins	INS	ENST00000398844.2	37	c.2901_2902insC	CCDS43363.1																																																																																				0.426	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			8	443						8	443	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G	rs570026912|rs371126144		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:135207263_135207264insG	ENST00000420621.1	+	5	707_708	c.535_536insG	c.(535-537)cggfs	p.R179fs	SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.R125fs|SLC25A48_ENST00000274513.5_Frame_Shift_Ins_p.R179fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(535-537)gggfs		solute carrier family 25, member 48																																				SO:0001589	frameshift_variant	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207263_135207264insG		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.541dupG	5.37:g.135207269_135207269dupG	ENSP00000407973:p.Arg179fs		Somatic				SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron	p.G179fs			WXS	Illumina GAIIx	Phase_I	Q6ZT89	S2548_HUMAN			5	707_708	+			179					Q8TAV9	Frame_Shift_Ins	INS	ENST00000420621.1	37	c.535_536insG																																																																																					0.604	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		8	370						8	370	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193054	139193055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:139193054_139193055insC	ENST00000274710.3	+	3	737_738	c.532_533insC	c.(532-534)gccfs	p.A178fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	178					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTTCGAGGCCCCCCTCACA	0.668																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(532-534)cccfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193054_139193055insC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.538dupC	5.37:g.139193060_139193060dupC	ENSP00000274710:p.Ala178fs		Somatic					p.P178fs	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	737_738	+			178					D3DQD3|Q8N3J8	Frame_Shift_Ins	INS	ENST00000274710.3	37	c.532_533insC	CCDS4216.1																																																																																				0.668	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		7	486						7	486	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(766-768)gggfs	p.G256fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(763-768)ccggggfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193287_139193288insG	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.772dupG	5.37:g.139193294_139193294dupG	ENSP00000274710:p.Gly256fs		Somatic					p.PG255fs	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	970_971	+			255					D3DQD3|Q8N3J8	Frame_Shift_Ins	INS	ENST00000274710.3	37	c.765_766insG	CCDS4216.1																																																																																				0.614	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		22	356						22	356	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)cggfs	p.R62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.51																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(184-186)gggfs						0,4264		0,0,2132						0.4	0.0			90	1,8253		0,1,4126	no	frameshift	PCDHB12	NM_018932.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588663_140588664insG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.190dupG	5.37:g.140588669_140588669dupG	ENSP00000239450:p.Arg62fs		Somatic				PCDHB12_ENST00000541609.1_Intron	p.G62fs	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	373_374	+			62			Cadherin 1.		B4DDU1	Frame_Shift_Ins	INS	ENST00000239450.2	37	c.184_185insG	CCDS4254.1																																																																																				0.510	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		16	974						16	974	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C	rs201111122		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)gccfs	p.A682fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2044-2046)cccfs																																						SO:0001589	frameshift_variant	5098							g.chr5:140857727_140857728insC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2050dupC	5.37:g.140857733_140857733dupC	ENSP00000312070:p.Ala682fs		Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	p.P682fs	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2148_2149	+								O60622|Q08192|Q9Y5C4	Frame_Shift_Ins	INS	ENST00000308177.3	37	c.2044_2045insC	CCDS4261.1																																																																																				0.515	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		10	279						10	279	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140870530	140870531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140870530_140870531insC	ENST00000252087.1	+	1	1723_1724	c.1723_1724insC	c.(1723-1725)gccfs	p.A575fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	575	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCGT	0.589																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1723-1725)cccfs																																						SO:0001589	frameshift_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870530_140870531insC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1729dupC	5.37:g.140870536_140870536dupC	ENSP00000252087:p.Ala575fs		Somatic				PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron	p.P575fs	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1723_1724	+			575			Cadherin 6.		Q9Y5C2	Frame_Shift_Ins	INS	ENST00000252087.1	37	c.1723_1724insC	CCDS4263.1																																																																																				0.589	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		7	400						7	400	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	p.P743fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	1009						8	1009	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141052414	141052415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141052414_141052415insG	ENST00000239440.4	-	8	1236_1237	c.1171_1172insC	c.(1171-1173)caafs	p.Q391fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.Q53fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.Q313fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	391					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCGGGGTGGTTGGGGGGGCCGG	0.658																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1171-1173)accfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052414_141052415insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1172dupC	5.37:g.141052421_141052421dupG	ENSP00000239440:p.Gln391fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.T313fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.T53fs	p.T391fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			8	1236_1237	-			391					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.1171_1172insC	CCDS4266.1																																																																																				0.658	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	72						7	72	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141244441	141244442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141244441_141244442insG	ENST00000394536.3	-	3	1593_1594	c.1454_1455insC	c.(1453-1455)ccafs	p.P485fs	PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.P463fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.P473fs|PCDH1_ENST00000287008.3_Frame_Shift_Ins_p.P485fs|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	485	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCTGGAGAGTGGGGGGTTGCC	0.53																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(1453-1455)cctfs		protocadherin 1																																				SO:0001589	frameshift_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244441_141244442insG	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1455dupC	5.37:g.141244447_141244447dupG	ENSP00000378043:p.Pro485fs		Somatic				PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.P463fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.P485fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.P473fs	p.P485fs	NM_032420.2	NP_115796.2	WXS	Illumina GAIIx	Phase_I	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1601_1602	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	485			Cadherin 4.		Q8IUP2	Frame_Shift_Ins	INS	ENST00000394536.3	37	c.1454_1455insC	CCDS43375.1																																																																																				0.530	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		12	1209						12	1209	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		31	692						31	692	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141694153_141694154insG	ENST00000434127.2	-	2	763_764	c.520_521insC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Frame_Shift_Ins_p.R197fs	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(589-591)gacfs		sprouty homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694153_141694154insG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.521dupC	5.37:g.141694159_141694159dupG	ENSP00000399468:p.Arg174fs		Somatic				SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	p.D197fs	NM_030964.3	NP_112226.2	WXS	Illumina GAIIx	Phase_I	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	775_776	-		all_hematologic(541;0.118)	174			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Ins	INS	ENST00000434127.2	37	c.589_590insC	CCDS47296.1																																																																																				0.609	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			13	749						13	749	---	---	---	---
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:142586762_142586763insC	ENST00000274498.4	+	21	2366_2367		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000378004.3_Splice_Site	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579																																						ENST00000378004.3																			1	Unknown(1)	p.?(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.e21-1		Rho GTPase activating protein 26																																				SO:0001630	splice_region_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142586762_142586763insC	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1989-1->C	5.37:g.142586768_142586768dupC			Somatic				ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron		NM_001135608.1	NP_001129080.1	WXS	Illumina GAIIx	Phase_I	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	2343_2344	+		all_hematologic(541;0.0416)						O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Splice_Site	INS	ENST00000274498.4	37		CCDS4277.1																																																																																				0.579	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Intron	10	565						10	565	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145393368	145393369	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:145393368_145393369insA	ENST00000511217.1	+	4	855_856	c.803_804insA	c.(802-807)acaaaafs	p.TK268fs	SH3RF2_ENST00000359120.4_Frame_Shift_Ins_p.TK268fs			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	268					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATCCCGCACAAAAAACCTGT	0.53																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(802-804)aaafs		SH3 domain containing ring finger 2																																				SO:0001589	frameshift_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393368_145393369insA	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.809dupA	5.37:g.145393374_145393374dupA	ENSP00000424497:p.Thr268fs		Somatic				SH3RF2_ENST00000359120.4_Frame_Shift_Ins_p.K268fs	p.K268fs			WXS	Illumina GAIIx	Phase_I	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	855_856	+			268					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Frame_Shift_Ins	INS	ENST00000511217.1	37	c.803_804insA	CCDS4280.1																																																																																				0.530	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		7	631						7	631	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs		Somatic				PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs	p.E397fs			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		14	908						14	908	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150885188	150885189	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150885188_150885189insG	ENST00000261800.5	-	23	12999_13000	c.12987_12988insC	c.(12985-12990)cccaacfs	p.N4330fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4330					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTCATAGTTGGGGGGCACCC	0.634																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12985-12990)ccactafs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885188_150885189insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12988dupC	5.37:g.150885194_150885194dupG	ENSP00000261800:p.Asn4330fs		Somatic					p.L4330fs	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12999_13000	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4330					O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.12987_12988insC	CCDS4317.1																																																																																				0.634	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	158						9	158	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G	rs371598238		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)cccaaafs	p.K2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6202-6207)ccaattfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924483_150924484insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6205dupC	5.37:g.150924489_150924489dupG	ENSP00000261800:p.Lys2069fs		Somatic					p.I2069fs	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6216_6217	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2069			Cadherin 17.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.6204_6205insC	CCDS4317.1																																																																																				0.505	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	711						7	711	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150946335	150946335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150946335delG	ENST00000261800.5	-	1	2170	c.2158delC	c.(2158-2160)caafs	p.Q720fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	720	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAATGGATTGGGGGAAGTGG	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(2158-2160)aafs		FAT atypical cadherin 2							103.0	109.0	107.0					5																	150946335		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946335delG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2158delC	5.37:g.150946335delG	ENSP00000261800:p.Gln720fs		Somatic					p.Q720fs	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2170	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	720			Cadherin 6.		O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.2158delC	CCDS4317.1																																																																																				0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	256						9	256	---	---	---	---
FAXDC2	10826	broad.mit.edu	37	5	154202045	154202045	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:154202045delG	ENST00000326080.5	-	7	1088	c.665delC	c.(664-666)cctfs	p.P222fs	FAXDC2_ENST00000517938.1_Frame_Shift_Del_p.P199fs|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	222					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										ATGCTCTATAGGGTGGGCATA	0.522																																						ENST00000326080.5																			0											c.(664-666)ctfs		fatty acid hydroxylase domain containing 2							249.0	233.0	238.0					5																	154202045		1946	4144	6090	SO:0001589	frameshift_variant	10826							g.chr5:154202045delG	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.665delC	5.37:g.154202045delG	ENSP00000320604:p.Pro222fs		Somatic				FAXDC2_ENST00000517938.1_Frame_Shift_Del_p.P199fs	p.P222fs	NM_032385.3	NP_115761.2	WXS	Illumina GAIIx	Phase_I					7	1088	-								B4DIE1|Q9BSX6|Q9H8C7	Frame_Shift_Del	DEL	ENST00000326080.5	37	c.665delC	CCDS43390.1																																																																																				0.522	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		7	1157						7	1157	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2524-2529)cccaccfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915296_156915297insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs		Somatic				ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs	p.T843fs	NM_033274.3	NP_150377.1	WXS	Illumina GAIIx	Phase_I	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2604_2605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	843					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.2526_2527insC																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		8	602						8	602	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:161116011_161116012insG	ENST00000274545.5	+	4	715_716	c.282_283insG	c.(283-285)gggfs	p.G95fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Frame_Shift_Ins_p.G85fs			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	95					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-255)ttggggfs		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116011_161116012insG		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.288dupG	5.37:g.161116017_161116017dupG	ENSP00000274545:p.Gly95fs	TCGA Ovarian(5;0.080)	Somatic				RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs	p.LG84fs	NM_000811.2	NP_000802.2	WXS	Illumina GAIIx	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	494_495	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	94					A8K096|Q4VAV2	Frame_Shift_Ins	INS	ENST00000274545.5	37	c.252_253insG	CCDS4356.1																																																																																				0.406	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			22	1293						22	1293	---	---	---	---
UBTD2	92181	broad.mit.edu	37	5	171638949	171638950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:171638949_171638950insA	ENST00000393792.2	-	3	994_995	c.589_590insT	c.(589-591)tctfs	p.S197fs		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	197	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTCTGCCAGAAAAAAACCAC	0.49																																						ENST00000393792.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10						c.(589-591)tggfs		ubiquitin domain containing 2																																				SO:0001589	frameshift_variant	92181					cytoplasm		g.chr5:171638949_171638950insA	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.590dupT	5.37:g.171638956_171638956dupA	ENSP00000377381:p.Ser197fs		Somatic					p.W197fs	NM_152277.2	NP_689490.2	WXS	Illumina GAIIx	Phase_I	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	994_995	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	197			Ubiquitin-like.		Q8TDQ3	Frame_Shift_Ins	INS	ENST00000393792.2	37	c.589_590insT	CCDS4379.2																																																																																				0.490	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		10	532						10	532	---	---	---	---
HRH2	3274	broad.mit.edu	37	5	175111290	175111291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:175111290_175111291insC	ENST00000231683.2	+	1	2827_2828	c.1054_1055insC	c.(1054-1056)gccfs	p.A352fs	HRH2_ENST00000377291.2_Frame_Shift_Ins_p.A352fs	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	352					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	AGAAGTCACGGCCCCCCAGGGA	0.589																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(1054-1056)cccfs		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)																																			SO:0001589	frameshift_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111290_175111291insC		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.1060dupC	5.37:g.175111296_175111296dupC	ENSP00000231683:p.Ala352fs		Somatic				HRH2_ENST00000377291.2_Frame_Shift_Ins_p.P352fs	p.P352fs	NM_022304.2	NP_071640.1	WXS	Illumina GAIIx	Phase_I	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2827_2828	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	352					B5BUP7|Q14464|Q7Z5R9	Frame_Shift_Ins	INS	ENST00000231683.2	37	c.1054_1055insC	CCDS4395.1																																																																																				0.589	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			7	834						7	834	---	---	---	---
DBN1	1627	broad.mit.edu	37	5	176885424	176885425	+	Frame_Shift_Ins	INS	-	-	G	rs374007032		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:176885424_176885425insG	ENST00000309007.5	-	12	1629_1630	c.1410_1411insC	c.(1408-1413)cccgccfs	p.A471fs	DBN1_ENST00000393563.4_Frame_Shift_Ins_p.A203fs|DBN1_ENST00000393565.1_Frame_Shift_Ins_p.A517fs|DBN1_ENST00000512501.1_Frame_Shift_Ins_p.A203fs|DBN1_ENST00000292385.5_Frame_Shift_Ins_p.A473fs	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	471					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTGGCGGCGGGGGGTACGT	0.639																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1414-1419)ccccgcfs		drebrin 1																																				SO:0001589	frameshift_variant	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176885424_176885425insG		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1411dupC	5.37:g.176885430_176885430dupG	ENSP00000308532:p.Ala471fs		Somatic				DBN1_ENST00000393563.4_Frame_Shift_Ins_p.R203fs|DBN1_ENST00000309007.5_Frame_Shift_Ins_p.R471fs|DBN1_ENST00000393565.1_Frame_Shift_Ins_p.R517fs|DBN1_ENST00000512501.1_Frame_Shift_Ins_p.R203fs	p.R473fs	NM_080881.2	NP_543157.1	WXS	Illumina GAIIx	Phase_I	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2025_2026	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	471					A8MV58|B2RBG0|Q9UFZ5	Frame_Shift_Ins	INS	ENST00000309007.5	37	c.1416_1417insC	CCDS4420.1																																																																																				0.639	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		8	284						8	284	---	---	---	---
OR2V1	26693	broad.mit.edu	37	5	180552127	180552128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:180552127_180552128insG	ENST00000329365.2	-	1	176_177	c.177_178insC	c.(175-180)cccatgfs	p.M60fs		NM_001258283.1	NP_001245212.1	Q8NHB1	OR2V1_HUMAN	olfactory receptor, family 2, subfamily V, member 1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(4)	4						AAGAAGTACATGGGGGTGTGAA	0.525																																						ENST00000329365.2																			0				lung(4)	4						c.(175-180)cctgtafs		olfactory receptor, family 2, subfamily V, member 1																																				SO:0001589	frameshift_variant	26693							g.chr5:180552127_180552128insG	AB065465	CCDS58992.1	5q35.3	2012-08-09		2004-03-10	ENSG00000185372	ENSG00000185372		"""GPCR / Class A : Olfactory receptors"""	8280	protein-coding gene	gene with protein product				OR2V1P			Standard	NM_001258283		Approved	OST265	uc031smg.1	Q8NHB1	OTTHUMG00000162118	ENST00000329365.2:c.178dupC	5.37:g.180552132_180552132dupG	ENSP00000404102:p.Met60fs		Somatic					p.V60fs	NM_001258283.1	NP_001245212.1	WXS	Illumina GAIIx	Phase_I					1	176_177	-									Frame_Shift_Ins	INS	ENST00000329365.2	37	c.177_178insC	CCDS58992.1																																																																																				0.525	OR2V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367367.1			8	1055						8	1055	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		23	426						23	426	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		33	400						33	400	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:17837307_17837308insC	ENST00000259711.6	-	11	1061_1062	c.956_957insG	c.(955-957)ggcfs	p.G319fs	KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378814.5_Frame_Shift_Ins_p.G319fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.45																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(955-957)gaafs		kinesin family member 13A																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837307_17837308insC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.957dupG	6.37:g.17837313_17837313dupC	ENSP00000259711:p.Gly319fs		Somatic				KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs	p.E319fs	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	955_956	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	319					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Ins	INS	ENST00000259711.6	37	c.956_957insG	CCDS47381.1																																																																																				0.450	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			22	632						22	632	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs		Somatic					p.VP86fs	NM_080723.4	NP_542454.3	WXS	Illumina GAIIx	Phase_I	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		11	305						11	305	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		28	1213						28	1213	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27419434	27419435	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:27419434_27419435insT	ENST00000211936.6	-	6	2187_2188	c.1903_1904insA	c.(1903-1905)actfs	p.T635fs	ZNF184_ENST00000377419.1_Frame_Shift_Ins_p.T635fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTGTGTGAGTTTTTTGATGT	0.421																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1903-1905)tcafs		zinc finger protein 184																																				SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419434_27419435insT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1904dupA	6.37:g.27419440_27419440dupT	ENSP00000211936:p.Thr635fs		Somatic				ZNF184_ENST00000377419.1_Frame_Shift_Ins_p.S635fs	p.S635fs	NM_007149.2	NP_009080.2	WXS	Illumina GAIIx	Phase_I	Q99676	ZN184_HUMAN			6	2187_2188	-			635					B2R715|O60792|Q8TBA9	Frame_Shift_Ins	INS	ENST00000211936.6	37	c.1903_1904insA	CCDS4624.1																																																																																				0.421	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	382						7	382	---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323424	29323425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:29323424_29323425insG	ENST00000377154.1	-	4	847_848	c.548_549insC	c.(547-549)cctfs	p.P183fs	OR5V1_ENST00000543825.1_Frame_Shift_Ins_p.P183fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183H(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATCAGCAAAGGGGGGATGTC	0.455																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			1	Substitution - Missense(1)	p.P183H(1)	urinary_tract(1)	breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(547-549)cttfs		olfactory receptor, family 5, subfamily V, member 1																																				SO:0001589	frameshift_variant	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323424_29323425insG		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.549dupC	6.37:g.29323430_29323430dupG	ENSP00000366359:p.Pro183fs		Somatic				OR5V1_ENST00000543825.1_Frame_Shift_Ins_p.L183fs	p.L183fs			WXS	Illumina GAIIx	Phase_I	Q9UGF6	OR5V1_HUMAN			4	847_848	-			183					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Frame_Shift_Ins	INS	ENST00000377154.1	37	c.548_549insC	CCDS4657.1																																																																																				0.455	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			7	921						7	921	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		24	1008						24	1008	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)ctgfs	p.L939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2815-2817)gccfs		protein phosphatase 1, regulatory subunit 10																																				SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569333_30569334insG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2816dupC	6.37:g.30569340_30569340dupG	ENSP00000365694:p.Leu939fs		Somatic					p.A939fs	NM_002714.3	NP_002705.2	WXS	Illumina GAIIx	Phase_I	Q96QC0	PP1RA_HUMAN			20	3367_3368	-			939					O00405	Frame_Shift_Ins	INS	ENST00000376511.2	37	c.2815_2816insC	CCDS4681.1																																																																																				0.569	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		11	249						11	249	---	---	---	---
TUBB	203068	broad.mit.edu	37	6	30691536	30691543	+	Frame_Shift_Del	DEL	ATGAGTGG	ATGAGTGG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30691536_30691543delATGAGTGG	ENST00000327892.8	+	4	1003_1010	c.697_704delATGAGTGG	c.(697-705)atgagtggtfs	p.MSG233fs	TUBB_ENST00000396384.1_Frame_Shift_Del_p.MSG161fs|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000330914.3_Frame_Shift_Del_p.MSG161fs|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396389.1_Frame_Shift_Del_p.MSG215fs	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	233					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CTCAGCCACCATGAGTGGTGTCACCACC	0.543																																						ENST00000396389.1																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(643-651)tfs		tubulin, beta class I	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)																																			SO:0001589	frameshift_variant	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30691536_30691543delATGAGTGG	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.697_704delATGAGTGG	6.37:g.30691536_30691543delATGAGTGG	ENSP00000339001:p.Met233fs		Somatic				XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Frame_Shift_Del_p.MSG161fs|TUBB_ENST00000327892.8_Frame_Shift_Del_p.MSG233fs|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Frame_Shift_Del_p.MSG161fs	p.MSG215fs			WXS	Illumina GAIIx	Phase_I	P07437	TBB5_HUMAN			4	1236_1243	+			233					P05218|Q8WUC1|Q9CY33	Frame_Shift_Del	DEL	ENST00000327892.8	37	c.643_650delATGAGTGG	CCDS4687.1																																																																																				0.543	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		91	553						91	553	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30859788	30859789	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30859788_30859789insG	ENST00000324771.8	+	9	1223_1224	c.675_676insG	c.(676-678)gggfs	p.G226fs	DDR1_ENST00000446312.1_Frame_Shift_Ins_p.MG192fs|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.G226fs|DDR1_ENST00000376569.3_Frame_Shift_Ins_p.G226fs|DDR1_ENST00000376567.2_Frame_Shift_Ins_p.G226fs|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.G226fs|DDR1_ENST00000454612.2_Frame_Shift_Ins_p.G226fs|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376570.4_Frame_Shift_Ins_p.G226fs|DDR1_ENST00000418800.2_Frame_Shift_Ins_p.G226fs|DDR1_ENST00000508312.1_Frame_Shift_Ins_p.G244fs|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376575.3_Frame_Shift_Ins_p.G226fs|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.G226fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	226	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GACTGCAGTATGGGGGTCTGGG	0.599																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(673-678)taggggfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001589	frameshift_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859788_30859789insG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.680dupG	6.37:g.30859793_30859793dupG	ENSP00000318217:p.Gly226fs		Somatic				DDR1_ENST00000376575.3_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000376570.4_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000446312.1_Frame_Shift_Ins_p.R192fs|DDR1_ENST00000376569.3_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000454612.2_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376567.2_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000418800.2_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000508312.1_Frame_Shift_Ins_p.*G243fs	p.*G225fs			WXS	Illumina GAIIx	Phase_I	Q08345	DDR1_HUMAN			9	1223_1224	+			225					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.675_676insG	CCDS34385.1																																																																																				0.599	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		7	780						7	780	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30864840	30864841	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30864840_30864841insC	ENST00000324771.8	+	16	2467_2468	c.1919_1920insC	c.(1918-1923)ttccccfs	p.FP640fs	DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.FP640fs|DDR1_ENST00000376569.3_Frame_Shift_Ins_p.FP603fs|DDR1_ENST00000376567.2_Frame_Shift_Ins_p.FP603fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.FP640fs|DDR1_ENST00000454612.2_Frame_Shift_Ins_p.FP603fs|DDR1_ENST00000376570.4_Frame_Shift_Ins_p.FP603fs|DDR1_ENST00000418800.2_Frame_Shift_Ins_p.FP603fs|DDR1_ENST00000508312.1_Frame_Shift_Ins_p.FP621fs|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.FP307fs|DDR1_ENST00000376575.3_Frame_Shift_Ins_p.FP640fs|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.FP640fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	640	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGTCTTGATTTCCCCCTTAATG	0.525																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1918-1920)tccfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001589	frameshift_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30864840_30864841insC	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1924dupC	6.37:g.30864845_30864845dupC	ENSP00000318217:p.Phe640fs		Somatic				DDR1_ENST00000376575.3_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000376570.4_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000454612.2_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.S307fs|DDR1_ENST00000376567.2_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000418800.2_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000508312.1_Frame_Shift_Ins_p.S621fs	p.S640fs			WXS	Illumina GAIIx	Phase_I	Q08345	DDR1_HUMAN			16	2467_2468	+			640			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1919_1920insC	CCDS34385.1																																																																																				0.525	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		8	742						8	742	---	---	---	---
MICB	4277	broad.mit.edu	37	6	31474800	31474801	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31474800_31474801insC	ENST00000252229.6	+	4	694_695	c.615_616insC	c.(616-618)ccc>Cccc	p.P206fs	MICB_ENST00000538442.1_Splice_Site_p.P174fs|MICB_ENST00000399150.3_Splice_Site_p.P163fs	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGTGCCCCCCATGGT	0.574																																						ENST00000252229.6																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.e4-1		MHC class I polypeptide-related sequence B																																				SO:0001630	splice_region_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474800_31474801insC		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.614-1->C	6.37:g.31474806_31474806dupC			Somatic				MICB_ENST00000399150.3_Splice_Site_p.VP162_splice|MICB_ENST00000538442.1_Splice_Site_p.VP173_splice	p.VP205_splice	NM_005931.3	NP_005922.2	WXS	Illumina GAIIx	Phase_I	Q29980	MICB_HUMAN			4	694_695	+			205						Splice_Site	INS	ENST00000252229.6	37	c.613_splice	CCDS43449.1																																																																																				0.574	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	Frame_Shift_Ins	12	554						12	554	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31500690	31500691	+	Splice_Site	INS	-	-	G	rs557956088	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31500690_31500691insG	ENST00000396172.1	-	7	1366		c.e7-2		DDX39B_ENST00000417556.2_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site|DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000376177.2_Splice_Site|DDX39B_ENST00000458640.1_Splice_Site	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTCCATTGGCTgggggggagga	0.579																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e8-2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B																																				SO:0001630	splice_region_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31500690_31500691insG	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.736-2->C	6.37:g.31500697_31500697dupG			Somatic				DDX39B_ENST00000458640.1_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site|DDX39B_ENST00000376177.2_Splice_Site|DDX39B_ENST00000396172.1_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q13838	DX39B_HUMAN			8	1411	-								B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Splice_Site	INS	ENST00000396172.1	37		CCDS4697.1																																																																																				0.579	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	Intron	19	299						19	299	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000375976.4_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000211379.5_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG			Somatic				BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice	p.A978_splice			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	34	760						34	760	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31608920_31608921insC	ENST00000375964.6	-	19	2970_2971	c.2657_2658insG	c.(2656-2658)ggafs	p.G886fs	BAG6_ENST00000375976.4_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.G754fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.G916fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.G880fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2746-2748)gcafs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608920_31608921insC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2658dupG	6.37:g.31608926_31608926dupC	ENSP00000365131:p.Gly886fs		Somatic				BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs	p.A916fs			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			20	3036_3037	-			886					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.2747_2748insG	CCDS47403.1																																																																																				0.515	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		21	1804						21	1804	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31617054_31617055insG	ENST00000375964.6	-	4	657_658	c.344_345insC	c.(343-345)cctfs	p.P115fs	BAG6_ENST00000375976.4_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.P115fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594																																						ENST00000404765.2																			1	Deletion - Frameshift(1)	p.P115fs*53(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(343-345)cggfs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31617054_31617055insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.345dupC	6.37:g.31617061_31617061dupG	ENSP00000365131:p.Pro115fs		Somatic				BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs	p.R115fs			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			4	633_634	-			115					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.344_345insC	CCDS47403.1																																																																																				0.594	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		13	500						13	500	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000480039.1_Intron|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			43	640						43	640	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)cccaatfs	p.N345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.N50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1030-1035)ccatgtfs		valyl-tRNA synthetase	L-Valine(DB00161)																																			SO:0001589	frameshift_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31759454_31759455insG	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1033dupC	6.37:g.31759460_31759460dupG	ENSP00000364815:p.Asn345fs		Somatic				VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	p.C345fs	NM_006295.2	NP_006286.1	WXS	Illumina GAIIx	Phase_I	P26640	SYVC_HUMAN			8	1472_1473	-			345					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Ins	INS	ENST00000375663.3	37	c.1032_1033insC	CCDS34412.1																																																																																				0.564	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		11	698						11	698	---	---	---	---
C2	717	broad.mit.edu	37	6	31911214	31911215	+	Frame_Shift_Ins	INS	-	-	G	rs544657195	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31911214_31911215insG	ENST00000299367.5	+	12	1753_1754	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs	CFB_ENST00000556679.1_Frame_Shift_Ins_p.R340fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.R264fs|C2_ENST00000452323.2_Frame_Shift_Ins_p.R279fs|C2_ENST00000469372.1_Frame_Shift_Ins_p.R247fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.R361fs|CFB_ENST00000425368.2_5'Flank|CFB_ENST00000456570.1_Frame_Shift_Ins_p.R340fs	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	493	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGAGACCTGCCGGGGGGCCCTC	0.589																																						ENST00000556679.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1018-1020)gggfs		complement factor B																																				SO:0001589	frameshift_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911214_31911215insG		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1483dupG	6.37:g.31911220_31911220dupG	ENSP00000299367:p.Arg493fs		Somatic				C2_ENST00000452323.2_Frame_Shift_Ins_p.G279fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.G264fs|C2_ENST00000469372.1_Frame_Shift_Ins_p.G247fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.G361fs|C2_ENST00000299367.5_Frame_Shift_Ins_p.G493fs|CFB_ENST00000456570.1_Frame_Shift_Ins_p.G340fs	p.G340fs			WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			9	1073_1074	+			512			VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Frame_Shift_Ins	INS	ENST00000299367.5	37	c.1018_1019insG	CCDS4728.1																																																																																				0.589	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			8	679						8	679	---	---	---	---
C2	717	broad.mit.edu	37	6	31912797	31912798	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31912797_31912798insT	ENST00000299367.5	+	17	2346_2347	c.2070_2071insT	c.(2071-2073)tttfs	p.F691fs	CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Frame_Shift_Ins_p.F477fs|C2_ENST00000469372.1_Frame_Shift_Ins_p.F445fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.F559fs|CFB_ENST00000425368.2_5'Flank|C2_ENST00000468407.1_3'UTR|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	691	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGAGATTCAGGTTTTTTCAGGT	0.545																																						ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(2068-2073)agttttfs		complement component 2																																				SO:0001589	frameshift_variant	717							g.chr6:31912797_31912798insT		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2076dupT	6.37:g.31912803_31912803dupT	ENSP00000299367:p.Phe691fs		Somatic				C2_ENST00000452323.2_Frame_Shift_Ins_p.SF476fs|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Frame_Shift_Ins_p.SF444fs|C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Frame_Shift_Ins_p.SF558fs|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron	p.SF690fs	NM_000063.4	NP_000054.2	WXS	Illumina GAIIx	Phase_I				LUAD - Lung adenocarcinoma(999;0.247)	17	2346_2347	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Frame_Shift_Ins	INS	ENST00000299367.5	37	c.2070_2071insT	CCDS4728.1																																																																																				0.545	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			8	285						8	285	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32049423	32049424	+	Frame_Shift_Ins	INS	-	-	G	rs376472382|rs12211410	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32049423_32049424insG	ENST00000375244.3	-	10	3964_3965	c.3763_3764insC	c.(3763-3765)cgcfs	p.R1255fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.R1255fs			P22105	TENX_HUMAN	tenascin XB	1342	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAACTCAGGGCGGGGGGGCTCC	0.639																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3763-3765)cccfs		tenascin XB																																				SO:0001589	frameshift_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32049423_32049424insG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3764dupC	6.37:g.32049430_32049430dupG	ENSP00000364393:p.Arg1255fs		Somatic				TNXB_ENST00000375247.2_Frame_Shift_Ins_p.P1255fs	p.P1255fs			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			10	3964_3965	-			1342			Fibronectin type-III 5.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Ins	INS	ENST00000375244.3	37	c.3763_3764insC																																																																																					0.639	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	126						9	126	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CTCTATGAGCTCCCCCCAAGTT	0.589																																						ENST00000375156.3																			0											c.(472-474)gctfs		FK506 binding protein like																																				SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097085_32097086insC	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.473dupG	6.37:g.32097091_32097091dupC	ENSP00000364298:p.Glu158fs		Somatic					p.A158fs	NM_022110.3	NP_071393.2	WXS	Illumina GAIIx	Phase_I	Q9UIM3	FKBPL_HUMAN			2	742_743	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Ins	INS	ENST00000375156.3	37	c.472_473insG	CCDS4738.1																																																																																				0.589	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			25	767						25	767	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32181928	32181929	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32181928_32181929insG	ENST00000375023.3	-	13	2263_2264	c.2125_2126insC	c.(2125-2127)cagfs	p.Q709fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	709	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCAGAGGGCTGGGGGTAGCAG	0.604																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2125-2127)gccfs		notch 4																																				SO:0001589	frameshift_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32181928_32181929insG		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2126dupC	6.37:g.32181933_32181933dupG	ENSP00000364163:p.Gln709fs		Somatic				NOTCH4_ENST00000465528.1_5'UTR	p.A709fs	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			13	2263_2264	-			709			EGF-like 18.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Ins	INS	ENST00000375023.3	37	c.2125_2126insC	CCDS34420.1																																																																																				0.604	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	1832						7	1832	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32181941	32181942	+	Frame_Shift_Ins	INS	-	-	C	rs143622513		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32181941_32181942insC	ENST00000375023.3	-	13	2250_2251	c.2112_2113insG	c.(2110-2115)gggaccfs	p.T705fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	705	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTAGCAGGTCCCCCCATGGG	0.604																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2110-2115)ggcctgfs		notch 4																																				SO:0001589	frameshift_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32181941_32181942insC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2113dupG	6.37:g.32181947_32181947dupC	ENSP00000364163:p.Thr705fs		Somatic				NOTCH4_ENST00000465528.1_5'UTR	p.L705fs	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			13	2250_2251	-			705			EGF-like 18.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Ins	INS	ENST00000375023.3	37	c.2112_2113insG	CCDS34420.1																																																																																				0.604	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			8	1653						8	1653	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32181972	32181973	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32181972_32181973insC	ENST00000375023.3	-	13	2219_2220	c.2081_2082insG	c.(2080-2082)ggcfs	p.G694fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	694	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGAGATGCAGCCCCCTAGCTC	0.589																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2080-2082)gtgfs		notch 4																																				SO:0001589	frameshift_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32181972_32181973insC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2082dupG	6.37:g.32181977_32181977dupC	ENSP00000364163:p.Gly694fs		Somatic				NOTCH4_ENST00000465528.1_5'UTR	p.V694fs	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			13	2219_2220	-			694			EGF-like 18.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Ins	INS	ENST00000375023.3	37	c.2081_2082insG	CCDS34420.1																																																																																				0.589	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			8	1603						8	1603	---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32798430	32798431	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32798430_32798431insA	ENST00000452392.2	-	8	1598_1599	c.1425_1426insT	c.(1423-1428)tttgcafs	p.A476fs	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Frame_Shift_Ins_p.A476fs|TAP2_ENST00000374897.2_Frame_Shift_Ins_p.A476fs			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	29						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	TTGGGATATGCAAAGGAGACGT	0.54																																						ENST00000374897.2																			0											c.(1423-1428)ttcatafs		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)																																				SO:0001589	frameshift_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32798430_32798431insA	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1426dupT	6.37:g.32798433_32798433dupA	ENSP00000391806:p.Ala476fs		Somatic				TAP2_ENST00000374899.4_Frame_Shift_Ins_p.I476fs|TAP2_ENST00000452392.2_Frame_Shift_Ins_p.I476fs	p.I476fs	NM_000544.3	NP_000535.3	WXS	Illumina GAIIx	Phase_I	Q03519	TAP2_HUMAN			8	1556_1557	-			476			ABC transporter.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Frame_Shift_Ins	INS	ENST00000452392.2	37	c.1425_1426insT																																																																																					0.540	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		10	536						10	536	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32948228_32948229insC	ENST00000374825.4	+	12	3957_3958	c.2256_2257insC	c.(2257-2259)cccfs	p.P753fs	BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P633fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P706fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P753fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	753					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2359-2364)aaccccfs		bromodomain containing 2																																				SO:0001589	frameshift_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32948228_32948229insC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2262dupC	6.37:g.32948234_32948234dupC	ENSP00000363958:p.Pro753fs		Somatic				BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs	p.NP787fs			WXS	Illumina GAIIx	Phase_I	P25440	BRD2_HUMAN			13	3962_3963	+			752			ET.|Poly-Ser.|Ser-rich.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	c.2361_2362insC	CCDS4762.1																																																																																				0.426	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			8	315						8	315	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G	rs572254268	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(511-513)gggfs	p.G171fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	171	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(508-513)agggggfs		ring finger protein 1																																				SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33178989_33178990insG		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.517dupG	6.37:g.33178996_33178996dupG	ENSP00000363787:p.Gly171fs		Somatic				RING1_ENST00000478431.1_3'UTR	p.RG170fs	NM_002931.3	NP_002922.2	WXS	Illumina GAIIx	Phase_I	Q06587	RING1_HUMAN			5	718_719	+			170			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Ins	INS	ENST00000374656.4	37	c.510_511insG	CCDS34424.1																																																																																				0.619	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			29	578						29	578	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33374111	33374112	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33374111_33374112insC	ENST00000428849.2	+	8	2125_2126	c.1675_1676insC	c.(1675-1677)gccfs	p.A559fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	559	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCAGTGTGGGGCCCCCCTCAGT	0.644																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1675-1677)cccfs		kinesin family member C1																																				SO:0001589	frameshift_variant	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374111_33374112insC	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1681dupC	6.37:g.33374117_33374117dupC	ENSP00000393963:p.Ala559fs		Somatic					p.P559fs	NM_002263.3	NP_002254.2	WXS	Illumina GAIIx	Phase_I	Q9BW19	KIFC1_HUMAN			8	2125_2126	+			559			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Frame_Shift_Ins	INS	ENST00000428849.2	37	c.1675_1676insC	CCDS34430.1																																																																																				0.644	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		7	525						7	525	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33399975	33399976	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33399975_33399976insG	ENST00000418600.2	+	4	434_435	c.333_334insG	c.(334-336)gggfs	p.G112fs	SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.G53fs|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.G112fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	112					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						AGAGTGTCCCAGGGGGGAAGCA	0.639																																						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.(331-336)ccggggfs		synaptic Ras GTPase activating protein 1																																				SO:0001589	frameshift_variant	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.chr6:33399975_33399976insG	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.339dupG	6.37:g.33399981_33399981dupG	ENSP00000403636:p.Gly112fs		Somatic				SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.PG52fs|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.PG111fs	p.PG111fs	NM_006772.2	NP_006763.2	WXS	Illumina GAIIx	Phase_I	Q96PV0	SYGP1_HUMAN			4	434_435	+			111					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Frame_Shift_Ins	INS	ENST00000418600.2	37	c.333_334insG	CCDS34434.2																																																																																				0.639	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	405						7	405	---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34498057	34498058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:34498057_34498058insG	ENST00000538621.1	+	7	1071_1072	c.826_827insG	c.(826-828)cggfs	p.R276fs	PACSIN1_ENST00000244458.2_Frame_Shift_Ins_p.R276fs|PACSIN1_ENST00000374043.2_Frame_Shift_Ins_p.R234fs	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	276	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCAGGCCATCCGGGGGGCTGAT	0.609																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(826-828)gggfs		protein kinase C and casein kinase substrate in neurons 1																																				SO:0001589	frameshift_variant	29993				endocytosis		protein kinase activity	g.chr6:34498057_34498058insG	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.832dupG	6.37:g.34498063_34498063dupG	ENSP00000439639:p.Arg276fs		Somatic				PACSIN1_ENST00000374043.2_Frame_Shift_Ins_p.G234fs|PACSIN1_ENST00000244458.2_Frame_Shift_Ins_p.G276fs	p.G276fs	NM_001199583.1	NP_001186512.1	WXS	Illumina GAIIx	Phase_I	Q9BY11	PACN1_HUMAN			7	1071_1072	+			276					Q9P2G8	Frame_Shift_Ins	INS	ENST00000538621.1	37	c.826_827insG	CCDS4793.1																																																																																				0.609	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			10	210						10	210	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35213107	35213108	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:35213107_35213108insC	ENST00000274938.7	+	19	2504_2505	c.2504_2505insC	c.(2503-2508)aaccccfs	p.NP835fs	SCUBE3_ENST00000394681.1_Frame_Shift_Ins_p.NP851fs	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGGAACATCAACCCCCCACCCA	0.559																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(2503-2505)accfs		signal peptide, CUB domain, EGF-like 3																																				SO:0001589	frameshift_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35213107_35213108insC	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2510dupC	6.37:g.35213113_35213113dupC	ENSP00000274938:p.Asn835fs		Somatic				SCUBE3_ENST00000394681.1_Frame_Shift_Ins_p.T851fs	p.T835fs	NM_152753.2	NP_689966.2	WXS	Illumina GAIIx	Phase_I	Q8IX30	SCUB3_HUMAN			19	2504_2505	+			835			CUB.			Frame_Shift_Ins	INS	ENST00000274938.7	37	c.2504_2505insC	CCDS4800.1																																																																																				0.559	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		9	394						9	394	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			19	366						19	366	---	---	---	---
PNPLA1	285848	broad.mit.edu	37	6	36262160	36262161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:36262160_36262161insC	ENST00000394571.2	+	4	698_699	c.698_699insC	c.(697-702)ttccccfs	p.FP233fs	PNPLA1_ENST00000312917.5_Frame_Shift_Ins_p.FP147fs|PNPLA1_ENST00000388715.3_Frame_Shift_Ins_p.FP138fs	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	233					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CACGCATTGTTCCCCCCGGACC	0.619																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(697-699)tccfs		patatin-like phospholipase domain containing 1																																				SO:0001589	frameshift_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36262160_36262161insC		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.704dupC	6.37:g.36262166_36262166dupC	ENSP00000378072:p.Phe233fs		Somatic				PNPLA1_ENST00000312917.5_Frame_Shift_Ins_p.S147fs|PNPLA1_ENST00000388715.3_Frame_Shift_Ins_p.S138fs	p.S233fs	NM_001145717.1	NP_001139189.2	WXS	Illumina GAIIx	Phase_I	Q8N8W4	PLPL1_HUMAN			4	698_699	+			233					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Frame_Shift_Ins	INS	ENST00000394571.2	37	c.698_699insC	CCDS54997.1																																																																																				0.619	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		7	290						7	290	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42231008	42231009	+	Intron	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:42231008_42231009insG	ENST00000372922.4	-	8	2447				TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000541110.1_Frame_Shift_Ins_p.R645fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAGGCGTGCGGGGGGCAGCC	0.644																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1933-1935)cacfs		transcriptional regulating factor 1																																				SO:0001627	intron_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231008_42231009insG	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1884+48->C	6.37:g.42231014_42231014dupG			Somatic				TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000372917.4_Intron	p.H645fs			WXS	Illumina GAIIx	Phase_I	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2501_2502	-	Colorectal(47;0.196)		628			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Ins	INS	ENST00000372922.4	37	c.1933_1934insC	CCDS4867.1																																																																																				0.644	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		9	173						9	173	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43111195	43111196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:43111195_43111196insC	ENST00000230419.4	+	14	2309_2310	c.2088_2089insC	c.(2089-2091)cccfs	p.P697fs	PTK7_ENST00000481273.1_Frame_Shift_Ins_p.P705fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.P657fs|PTK7_ENST00000349241.2_Frame_Shift_Ins_p.P567fs|PTK7_ENST00000352931.2_Frame_Shift_Ins_p.P641fs	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGCAGCCCTCCCCCCTACAA	0.604											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2086-2091)ccccccfs		protein tyrosine kinase 7																																				SO:0001589	frameshift_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111195_43111196insC	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2094dupC	6.37:g.43111201_43111201dupC	ENSP00000230419:p.Pro697fs		Somatic	OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000352931.2_Frame_Shift_Ins_p.PP640fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.PP656fs|PTK7_ENST00000481273.1_Frame_Shift_Ins_p.PP704fs|PTK7_ENST00000349241.2_Frame_Shift_Ins_p.PP566fs	p.PP696fs	NM_002821.4	NP_002812.2	WXS	Illumina GAIIx	Phase_I	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2309_2310	+			696					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Frame_Shift_Ins	INS	ENST00000230419.4	37	c.2088_2089insC	CCDS4884.1																																																																																				0.604	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			12	967						12	967	---	---	---	---
DLK2	65989	broad.mit.edu	37	6	43418590	43418591	+	Frame_Shift_Ins	INS	-	-	G	rs201087688	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:43418590_43418591insG	ENST00000357338.3	-	6	1538_1539	c.838_839insC	c.(838-840)cacfs	p.H280fs	DLK2_ENST00000372485.1_Frame_Shift_Ins_p.H274fs|DLK2_ENST00000414245.1_Frame_Shift_Ins_p.H274fs|DLK2_ENST00000372488.3_Frame_Shift_Ins_p.H280fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	280					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCTGCGCTGTGGGGGGCTGGC	0.644																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(838-840)cagfs		delta-like 2 homolog (Drosophila)																																				SO:0001589	frameshift_variant	65989					integral to membrane	calcium ion binding	g.chr6:43418590_43418591insG	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.839dupC	6.37:g.43418596_43418596dupG	ENSP00000349893:p.His280fs		Somatic				DLK2_ENST00000414245.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372485.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372488.3_Frame_Shift_Ins_p.Q280fs	p.Q280fs	NM_206539.1	NP_996262.1	WXS	Illumina GAIIx	Phase_I	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1538_1539	-	all_lung(25;0.00536)		280					B3KNZ7|Q5T3T8|Q9BQ54	Frame_Shift_Ins	INS	ENST00000357338.3	37	c.838_839insC	CCDS4897.1																																																																																				0.644	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		8	309						8	309	---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44102435	44102436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:44102435_44102436insG	ENST00000259746.9	+	2	297_298	c.114_115insG	c.(115-117)gggfs	p.G39fs	TMEM63B_ENST00000323267.6_Frame_Shift_Ins_p.G39fs			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	39					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCCTGCCCTTTGGGGGCGTCCC	0.624																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(112-117)ttggggfs		transmembrane protein 63B																																				SO:0001589	frameshift_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44102435_44102436insG	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.119dupG	6.37:g.44102440_44102440dupG	ENSP00000259746:p.Gly39fs		Somatic				TMEM63B_ENST00000323267.6_Frame_Shift_Ins_p.LG38fs	p.LG38fs			WXS	Illumina GAIIx	Phase_I	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		2	297_298	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		38					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Frame_Shift_Ins	INS	ENST00000259746.9	37	c.114_115insG	CCDS34461.1																																																																																				0.624	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		9	362						9	362	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)catfs	p.H147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(439-441)tacfs		tumor necrosis factor receptor superfamily, member 21																																				SO:0001589	frameshift_variant	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253988_47253989insG	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.440dupC	6.37:g.47253994_47253994dupG	ENSP00000296861:p.His147fs		Somatic					p.Y147fs	NM_014452.3	NP_055267.1	WXS	Illumina GAIIx	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		2	832_833	-			147					B2RDI9|Q0D2P5|Q96D86	Frame_Shift_Ins	INS	ENST00000296861.2	37	c.439_440insC	CCDS4921.1																																																																																				0.554	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		9	1370						9	1370	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs		Somatic					p.P9fs	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			12	222						12	222	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62604601	62604602	+	Frame_Shift_Ins	INS	-	-	C	rs150391619		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:62604601_62604602insC	ENST00000281156.4	-	6	1026_1027	c.748_749insG	c.(748-750)gcafs	p.A250fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	250	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CACTGTTGGTGCCCCCCGGGCT	0.54																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(748-750)accfs		KH domain containing, RNA binding, signal transduction associated 2																																				SO:0001589	frameshift_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604601_62604602insC	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.749dupG	6.37:g.62604607_62604607dupC	ENSP00000281156:p.Ala250fs		Somatic					p.T250fs	NM_152688.2	NP_689901.2	WXS	Illumina GAIIx	Phase_I	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	1026_1027	-			250			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Frame_Shift_Ins	INS	ENST00000281156.4	37	c.748_749insG	CCDS4963.1																																																																																				0.540	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		14	203						14	203	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73110317	73110318	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:73110317_73110318insG	ENST00000521978.1	+	34	4980_4981	c.4980_4981insG	c.(4981-4983)ccgfs	p.P1661fs	RIMS1_ENST00000518273.1_Frame_Shift_Ins_p.P1340fs|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.P981fs|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.P467fs|RIMS1_ENST00000264839.7_Frame_Shift_Ins_p.P1510fs|RIMS1_ENST00000517960.1_Frame_Shift_Ins_p.P1444fs|RIMS1_ENST00000523963.1_Frame_Shift_Ins_p.P786fs|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Frame_Shift_Ins_p.P795fs|RIMS1_ENST00000414192.2_Frame_Shift_Ins_p.P188fs|RIMS1_ENST00000522291.1_Frame_Shift_Ins_p.P1260fs|RIMS1_ENST00000520567.1_Frame_Shift_Ins_p.P1311fs|RIMS1_ENST00000348717.5_Frame_Shift_Ins_p.P1444fs|RIMS1_ENST00000425662.2_Frame_Shift_Ins_p.P729fs|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.P1450fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1661					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATTGTTCCCACCGTCCTCACT	0.53																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4525-4530)cccgtcfs		regulating synaptic membrane exocytosis 1																																				SO:0001589	frameshift_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73110317_73110318insG	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	Exception_encountered	6.37:g.73110317_73110318insG	ENSP00000428417:p.Pro1661fs		Somatic				RIMS1_ENST00000520567.1_Frame_Shift_Ins_p.V1311fs|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.V981fs|RIMS1_ENST00000518273.1_Frame_Shift_Ins_p.V1340fs|RIMS1_ENST00000517960.1_Frame_Shift_Ins_p.V1444fs|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.V467fs|RIMS1_ENST00000517827.1_Frame_Shift_Ins_p.V795fs|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.V1450fs|RIMS1_ENST00000348717.5_Frame_Shift_Ins_p.V1444fs|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000521978.1_Frame_Shift_Ins_p.V1661fs|RIMS1_ENST00000414192.2_Frame_Shift_Ins_p.V188fs|RIMS1_ENST00000523963.1_Frame_Shift_Ins_p.V786fs|RIMS1_ENST00000522291.1_Frame_Shift_Ins_p.V1260fs|RIMS1_ENST00000425662.2_Frame_Shift_Ins_p.V729fs	p.V1510fs			WXS	Illumina GAIIx	Phase_I	Q86UR5	RIMS1_HUMAN			30	4527_4528	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1661					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Ins	INS	ENST00000521978.1	37	c.4527_4528insG	CCDS47449.1																																																																																				0.530	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			16	348						16	348	---	---	---	---
TMEM30A	55754	broad.mit.edu	37	6	75994292	75994293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:75994292_75994293insC	ENST00000230461.6	-	1	391_392	c.62_63insG	c.(61-63)ggcfs	p.G21fs	TMEM30A_ENST00000475111.2_Frame_Shift_Ins_p.G21fs|RP1-234P15.4_ENST00000607221.1_lincRNA	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	21					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTTCGCGGTGCCCCCCGGAGC	0.624																																						ENST00000230461.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(61-63)gacfs		transmembrane protein 30A																																				SO:0001589	frameshift_variant	55754					integral to membrane		g.chr6:75994292_75994293insC	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.63dupG	6.37:g.75994298_75994298dupC	ENSP00000230461:p.Gly21fs		Somatic				TMEM30A_ENST00000475111.2_Frame_Shift_Ins_p.D21fs	p.D21fs	NM_018247.3	NP_060717.1	WXS	Illumina GAIIx	Phase_I	Q9NV96	CC50A_HUMAN			1	391_392	-			21					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Frame_Shift_Ins	INS	ENST00000230461.6	37	c.62_63insG	CCDS4983.1																																																																																				0.624	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		11	401						11	401	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs		Somatic				HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		18	464						18	464	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	90024941	90024942	+	5'UTR	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:90024941_90024942insC	ENST00000402938.3	-	0	76_77				GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Frame_Shift_Ins_p.I7fs	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCAGAGCAAATCCCCCCTGGCT	0.5																																						ENST00000602399.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(16-21)ggtttgfs		gamma-aminobutyric acid (GABA) A receptor, rho 2																																				SO:0001623	5_prime_UTR_variant	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:90024941_90024942insC		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.-58->G	6.37:g.90024947_90024947dupC			Somatic				GABRR2_ENST00000402938.3_5'UTR|GABRR2_ENST00000602808.1_5'UTR	p.L7fs	NM_002043.2	NP_002034.3	WXS	Illumina GAIIx	Phase_I	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	1	25_26	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	7					A2BDE4|Q9H153	Frame_Shift_Ins	INS	ENST00000402938.3	37	c.18_19insG	CCDS5020.3																																																																																				0.500	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			7	1769						7	1769	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587105	111587106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:111587105_111587106insG	ENST00000368847.4	+	4	693_694	c.340_341insG	c.(340-342)tggfs	p.W114fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	114					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTTGGCTATTTGGGGGGACAAA	0.416																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(340-342)gggfs		KIAA1919																																				SO:0001589	frameshift_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587105_111587106insG	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.346dupG	6.37:g.111587111_111587111dupG	ENSP00000357840:p.Trp114fs		Somatic					p.G114fs	NM_153369.2	NP_699200.2	WXS	Illumina GAIIx	Phase_I	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	693_694	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	114					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Frame_Shift_Ins	INS	ENST00000368847.4	37	c.340_341insG	CCDS5090.1																																																																																				0.416	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		16	525						16	525	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117714408	117714409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:117714408_117714409insT	ENST00000368508.3	-	11	1438_1439	c.1240_1241insA	c.(1240-1242)attfs	p.I414fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Ins_p.I423fs	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	414					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCAGCCACAATTTTTTGAGGT	0.347			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1240-1242)tgtfs		c-ros oncogene 1 , receptor tyrosine kinase																																				SO:0001589	frameshift_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117714408_117714409insT	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1241dupA	6.37:g.117714414_117714414dupT	ENSP00000357494:p.Ile414fs		Somatic				GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Ins_p.C423fs	p.C414fs	NM_002944.2	NP_002935.2	WXS	Illumina GAIIx	Phase_I	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	11	1438_1439	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	414					Q15368|Q5TDB5	Frame_Shift_Ins	INS	ENST00000368508.3	37	c.1240_1241insA	CCDS5116.1																																																																																				0.347	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			10	1339						10	1339	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		17	436						17	436	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127837037	127837038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:127837037_127837038insC	ENST00000525778.1	-	2	1467_1468	c.722_723insG	c.(721-723)ggcfs	p.G241fs	SOGA3_ENST00000556132.1_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000465909.2_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000368268.2_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000481848.2_Frame_Shift_Ins_p.G241fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	241	Gly-rich.				regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CACCGCTGCCGCCCCCCGCAAC	0.673																																						ENST00000556132.1																			0											c.(721-723)gggfs		SOGA family member 3																																				SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127837037_127837038insC	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.723dupG	6.37:g.127837043_127837043dupC	ENSP00000434570:p.Gly241fs		Somatic				SOGA3_ENST00000368268.2_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000465909.2_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000525778.1_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000481848.2_Frame_Shift_Ins_p.G241fs	p.G241fs	NM_001012279.2	NP_001012279.1	WXS	Illumina GAIIx	Phase_I	Q5TF21	CF174_HUMAN			2	1586_1587	-			241			Gly-rich.			Frame_Shift_Ins	INS	ENST00000525778.1	37	c.722_723insG	CCDS43505.1																																																																																				0.673	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		13	302						13	302	---	---	---	---
CTGF	1490	broad.mit.edu	37	6	132270567	132270568	+	Frame_Shift_Ins	INS	-	-	G	rs15960		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:132270567_132270568insG	ENST00000367976.3	-	5	1086_1087	c.886_887insC	c.(886-888)cacfs	p.H296fs	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GGTGGTTCTGTGGGGGGTGCAG	0.53																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(886-888)cagfs		connective tissue growth factor																																				SO:0001589	frameshift_variant	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270567_132270568insG	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.887dupC	6.37:g.132270573_132270573dupG	ENSP00000356954:p.His296fs		Somatic					p.Q296fs	NM_001901.2	NP_001892.1	WXS	Illumina GAIIx	Phase_I	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1086_1087	-	Breast(56;0.0602)		296			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Frame_Shift_Ins	INS	ENST00000367976.3	37	c.886_887insC	CCDS5151.1																																																																																				0.530	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		8	516						8	516	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086745	144086746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:144086745_144086746insC	ENST00000427704.2	+	6	1139_1140	c.1009_1010insC	c.(1009-1011)gccfs	p.A337fs	PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.A325fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.A257fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.A348fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.A268fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	337							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCTC	0.584																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1009-1011)cccfs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086745_144086746insC	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1016dupC	6.37:g.144086752_144086752dupC	ENSP00000391763:p.Ala337fs		Somatic				PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.P268fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.P325fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.P348fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.P257fs	p.P337fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	WXS	Illumina GAIIx	Phase_I	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1139_1140	+			337					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.1009_1010insC	CCDS47492.1																																																																																				0.584	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		11	253						11	253	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160963769	160963770	+	Frame_Shift_Ins	INS	-	-	C	rs201966517		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:160963769_160963770insC	ENST00000316300.5	-	34	5513_5514	c.5469_5470insG	c.(5467-5472)gggtgtfs	p.C1824fs	LPA_ENST00000447678.1_Frame_Shift_Ins_p.C1824fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4332	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.C1824G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGGCCACACACCCCCCTACAA	0.525																																						ENST00000447678.1																			1	Substitution - Missense(1)	p.C1824G(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5467-5472)gggtgtfs		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)																																			SO:0001589	frameshift_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160963769_160963770insC	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5470dupG	6.37:g.160963775_160963775dupC	ENSP00000321334:p.Cys1824fs		Somatic				LPA_ENST00000316300.5_Frame_Shift_Ins_p.C1824fs|LPA_ENST00000484276.1_5'UTR	p.C1824fs	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	35	5589_5590	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4332			Kringle 16.		Q5VTD7|Q9UD88	Frame_Shift_Ins	INS	ENST00000316300.5	37	c.5469_5470insG	CCDS43523.1																																																																																				0.525	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		7	530						7	530	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161455390	161455391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:161455390_161455391insC	ENST00000392142.4	+	2	400_401	c.252_253insC	c.(253-255)cccfs	p.P85fs	MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.P85fs|MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.P85fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.P85fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	85					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGGTACCTCTCCCCCCAGCAC	0.475																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(250-255)tcccccfs		mitogen-activated protein kinase kinase kinase 4																																				SO:0001589	frameshift_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161455390_161455391insC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.258dupC	6.37:g.161455396_161455396dupC	ENSP00000375986:p.Pro85fs		Somatic				MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.SP84fs	p.SP84fs	NM_005922.2	NP_005913.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	2	400_401	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	84					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Ins	INS	ENST00000392142.4	37	c.252_253insC	CCDS34565.1																																																																																				0.475	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			12	388						12	388	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161969904	161969905	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:161969904_161969905insC	ENST00000366898.1	-	9	1166_1167	c.1064_1065insG	c.(1063-1065)ggcfs	p.G355fs	PARK2_ENST00000366892.1_Frame_Shift_Ins_p.G355fs|PARK2_ENST00000366897.1_Frame_Shift_Ins_p.G327fs|PARK2_ENST00000366896.1_Frame_Shift_Ins_p.G206fs|PARK2_ENST00000338468.3_Frame_Shift_Ins_p.G164fs|PARK2_ENST00000366894.1_Frame_Shift_Ins_p.G164fs	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	355					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCAGGCCATTGCCCCCTTCGCA	0.599																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1063-1065)gaafs		parkin RBR E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969904_161969905insC		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1065dupG	6.37:g.161969909_161969909dupC	ENSP00000355865:p.Gly355fs		Somatic				PARK2_ENST00000366892.1_Frame_Shift_Ins_p.E355fs|PARK2_ENST00000338468.3_Frame_Shift_Ins_p.E164fs|PARK2_ENST00000366894.1_Frame_Shift_Ins_p.E164fs|PARK2_ENST00000366896.1_Frame_Shift_Ins_p.E206fs|PARK2_ENST00000366897.1_Frame_Shift_Ins_p.E327fs	p.E355fs	NM_004562.2	NP_004553.2	WXS	Illumina GAIIx	Phase_I	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1166_1167	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	355					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Frame_Shift_Ins	INS	ENST00000366898.1	37	c.1064_1065insG	CCDS5281.1																																																																																				0.599	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			8	465						8	465	---	---	---	---
BRAT1	221927	broad.mit.edu	37	7	2583460	2583461	+	Frame_Shift_Ins	INS	-	-	C	rs531827528		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:2583460_2583461insC	ENST00000340611.4	-	5	822_823	c.566_567insG	c.(565-567)ggtfs	p.G189fs	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	189					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CGGGCCAGTCACCCCCCGGCAG	0.658																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(565-567)ggafs		BRCA1-associated ATM activator 1																																				SO:0001589	frameshift_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583460_2583461insC	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.567dupG	7.37:g.2583466_2583466dupC	ENSP00000339637:p.Gly189fs		Somatic					p.G189fs	NM_152743.3	NP_689956.2	WXS	Illumina GAIIx	Phase_I	Q6PJG6	BRAT1_HUMAN			5	822_823	-			189					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Frame_Shift_Ins	INS	ENST00000340611.4	37	c.566_567insG	CCDS5334.1																																																																																				0.658	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		11	517						11	517	---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6474590	6474591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:6474590_6474591insC	ENST00000297056.6	-	4	649_650	c.480_481insG	c.(478-483)gggaaafs	p.K161fs	DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.K34fs|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.K120fs	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	161					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGAG	0.525																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(478-483)ggaaatfs		diacylglycerol lipase, beta																																				SO:0001589	frameshift_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474590_6474591insC	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.481dupG	7.37:g.6474596_6474596dupC	ENSP00000297056:p.Lys161fs		Somatic				DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs	p.N161fs	NM_139179.3	NP_631918.3	WXS	Illumina GAIIx	Phase_I	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	649_650	-		Ovarian(82;0.232)	161					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Frame_Shift_Ins	INS	ENST00000297056.6	37	c.480_481insG	CCDS5350.1																																																																																				0.525	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		7	302						7	302	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11022425	11022426	+	Frame_Shift_Ins	INS	-	-	A	rs562014939	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:11022425_11022426insA	ENST00000403050.3	+	3	991_992	c.539_540insA	c.(538-543)ccaaaafs	p.PK180fs	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	180					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K182fs*19(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCAGCGAGCCAAAAAAATGGA	0.49																																						ENST00000403050.3																			1	Deletion - Frameshift(1)	p.K182fs*19(1)	kidney(1)	NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(538-540)caafs		PHD finger protein 14																																				SO:0001589	frameshift_variant	9678						zinc ion binding	g.chr7:11022425_11022426insA	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.546dupA	7.37:g.11022432_11022432dupA	ENSP00000385795:p.Pro180fs		Somatic				PHF14_ENST00000445996.2_Intron	p.Q180fs	NM_014660.3	NP_055475.2	WXS	Illumina GAIIx	Phase_I	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	3	991_992	+			180					A7MCZ3|B4DI82	Frame_Shift_Ins	INS	ENST00000403050.3	37	c.539_540insA	CCDS47542.1																																																																																				0.490	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		7	197						7	197	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30671997	30671998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:30671997_30671998insC	ENST00000389266.3	+	16	2279_2280	c.2038_2039insC	c.(2038-2040)accfs	p.T680fs		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	680					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGTGAACAAGACCCCCCACACT	0.5																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(2038-2040)cccfs		glycyl-tRNA synthetase	Glycine(DB00145)																																			SO:0001589	frameshift_variant	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30671997_30671998insC	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.2044dupC	7.37:g.30672003_30672003dupC	ENSP00000373918:p.Thr680fs		Somatic					p.P680fs	NM_002047.2	NP_002038.2	WXS	Illumina GAIIx	Phase_I	P41250	SYG_HUMAN			16	2279_2280	+			680					B3KQA2|B4DIA0|Q969Y1	Frame_Shift_Ins	INS	ENST00000389266.3	37	c.2038_2039insC	CCDS43564.1																																																																																				0.500	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		8	695						8	695	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		13	277						13	277	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G	rs368613191		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:51287561_51287562insG	ENST00000265136.7	-	2	286_287	c.121_122insC	c.(121-123)cacfs	p.H41fs	COBL_ENST00000395540.2_Frame_Shift_Ins_p.H41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395542.2_Frame_Shift_Ins_p.H41fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(121-123)cgafs		cordon-bleu WH2 repeat protein																																				SO:0001589	frameshift_variant	23242							g.chr7:51287561_51287562insG	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.122dupC	7.37:g.51287568_51287568dupG	ENSP00000265136:p.His41fs		Somatic				COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs|COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs	p.R41fs			WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			2	305_306	-	Glioma(55;0.08)		41					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	ENST00000265136.7	37	c.121_122insC	CCDS34637.1																																																																																				0.604	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	151						8	151	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55221747	55221748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:55221747_55221748insC	ENST00000275493.2	+	7	968_969	c.791_792insC	c.(790-795)tgccccfs	p.CP264fs	EGFR_ENST00000342916.3_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.CP211fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.CP219fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000420316.2_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.CP264fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	264			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGGACACCTGCCCCCCACTCA	0.579		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(790-792)tccfs		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221747_55221748insC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.797dupC	7.37:g.55221753_55221753dupC	ENSP00000275493:p.Cys264fs	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	Somatic				EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs	p.S264fs	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	968_969	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		264					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Frame_Shift_Ins	INS	ENST00000275493.2	37	c.791_792insC	CCDS5514.1																																																																																				0.579	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		11	838						11	838	---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72744267	72744268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:72744267_72744268insC	ENST00000252037.4	+	4	449_450	c.380_381insC	c.(379-384)atccccfs	p.IP127fs	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000413573.2_Frame_Shift_Ins_p.IP97fs|FKBP6_ENST00000431982.2_Frame_Shift_Ins_p.IP122fs|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	127	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTCCCTTGATCCCCCCAAACA	0.55																																						ENST00000252037.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(379-381)accfs		FK506 binding protein 6, 36kDa																																				SO:0001589	frameshift_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744267_72744268insC	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.386dupC	7.37:g.72744273_72744273dupC	ENSP00000252037:p.Ile127fs		Somatic				FKBP6_ENST00000431982.2_Frame_Shift_Ins_p.T122fs|FKBP6_ENST00000413573.2_Frame_Shift_Ins_p.T97fs	p.T127fs	NM_003602.3	NP_003593.3	WXS	Illumina GAIIx	Phase_I	O75344	FKBP6_HUMAN			4	449_450	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	127			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Frame_Shift_Ins	INS	ENST00000252037.4	37	c.380_381insC	CCDS43595.1																																																																																				0.550	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		8	632						8	632	---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:73535322_73535323insC	ENST00000336180.2	+	15	1775_1776	c.1724_1725insC	c.(1723-1728)tgccccfs	p.CP575fs	LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.CP541fs|LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.CP605fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CCCCCAAACTGCCCCCCGAGCT	0.653																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(1813-1815)tccfs		LIM domain kinase 1																																				SO:0001589	frameshift_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73535322_73535323insC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1730dupC	7.37:g.73535328_73535328dupC	ENSP00000336740:p.Cys575fs		Somatic				LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.S541fs|LIMK1_ENST00000336180.2_Frame_Shift_Ins_p.S575fs	p.S605fs			WXS	Illumina GAIIx	Phase_I	P53667	LIMK1_HUMAN			15	1916_1917	+		Lung NSC(55;0.137)	575					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Ins	INS	ENST00000336180.2	37	c.1814_1815insC	CCDS5563.1																																																																																				0.653	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		8	230						8	230	---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76826169	76826170	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:76826169_76826170insC	ENST00000248598.5	-	2	778_779	c.746_747insG	c.(745-747)ggafs	p.G249fs	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	249	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTGTCCAGCCTCCCCCCATGGT	0.48																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(745-747)gggfs		fibrinogen-like 2																																				SO:0001589	frameshift_variant	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76826169_76826170insC	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.747dupG	7.37:g.76826175_76826175dupC	ENSP00000248598:p.Gly249fs		Somatic				CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	p.G249fs	NM_006682.2	NP_006673.1	WXS	Illumina GAIIx	Phase_I	Q14314	FGL2_HUMAN			2	778_779	-			249			Fibrinogen C-terminal.			Frame_Shift_Ins	INS	ENST00000248598.5	37	c.746_747insG	CCDS5591.1																																																																																				0.480	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		9	289						9	289	---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76828921	76828922	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:76828921_76828922insG	ENST00000248598.5	-	1	221_222	c.189_190insC	c.(187-192)cccttgfs	p.PL63fs	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	63						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGAATAGTCAAGGGGGGCAGGC	0.48																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(187-192)cctgacfs		fibrinogen-like 2																																				SO:0001589	frameshift_variant	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828921_76828922insG	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.190dupC	7.37:g.76828927_76828927dupG	ENSP00000248598:p.Pro63fs		Somatic				CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	p.D64fs	NM_006682.2	NP_006673.1	WXS	Illumina GAIIx	Phase_I	Q14314	FGL2_HUMAN			1	221_222	-			64						Frame_Shift_Ins	INS	ENST00000248598.5	37	c.189_190insC	CCDS5591.1																																																																																				0.480	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		7	439						7	439	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)tttgcafs	p.A204fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.A204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATGAATCCTGCAAAAAACGTGG	0.446																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(607-612)ttcaggfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87081037_87081038insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.610dupT	7.37:g.87081043_87081043dupA	ENSP00000265723:p.Ala204fs		Somatic				ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs	p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina GAIIx	Phase_I	P21439	MDR3_HUMAN			7	720_721	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		204			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.609_610insT	CCDS5606.1																																																																																				0.446	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		8	681						8	681	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs		Somatic				AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs	p.R3747fs			WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		51	730						51	730	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96639275	96639276	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:96639275_96639276insC	ENST00000518156.2	+	3	1228_1229	c.798_799insC	c.(799-801)cccfs	p.P267fs	DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Frame_Shift_Ins_p.P239fs|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_Frame_Shift_Ins_p.P139fs|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	149					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTGTCAGTATGCCCCCCAACAG	0.619																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(796-801)atccccfs		distal-less homeobox 6																																				SO:0001589	frameshift_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639275_96639276insC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.804dupC	7.37:g.96639281_96639281dupC	ENSP00000428480:p.Pro267fs		Somatic				DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Frame_Shift_Ins_p.IP138fs|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Frame_Shift_Ins_p.IP238fs	p.IP266fs			WXS	Illumina GAIIx	Phase_I	P56179	DLX6_HUMAN			3	1228_1229	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		148					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Frame_Shift_Ins	INS	ENST00000518156.2	37	c.798_799insC	CCDS47647.2																																																																																				0.619	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		13	351						13	351	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97800895	97800896	+	Frame_Shift_Ins	INS	-	-	G	rs142433566		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:97800895_97800896insG	ENST00000297293.5	+	7	993_994	c.700_701insG	c.(700-702)cggfs	p.R234fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.R234L(1)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGAGCACATGCGGGGGGACTCA	0.614																																						ENST00000297293.5																			1	Substitution - Missense(1)	p.R234L(1)	lung(1)	NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(700-702)gggfs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97800895_97800896insG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.706dupG	7.37:g.97800901_97800901dupG	ENSP00000297293:p.Arg234fs		Somatic					p.G234fs	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			7	993_994	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		234			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Ins	INS	ENST00000297293.5	37	c.700_701insG	CCDS5654.1																																																																																				0.614	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		27	2032						27	2032	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)accfs	p.T3364fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.T3353fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.T3335fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.54																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10090-10092)cccfs		transformation/transcription domain-associated protein																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592294_98592295insC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10096dupC	7.37:g.98592300_98592300dupC	ENSP00000352925:p.Thr3364fs		Somatic				TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs	p.P3364fs	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10299_10300	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3364					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.10090_10091insC	CCDS59066.1																																																																																				0.540	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		12	1064						12	1064	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98609744	98609745	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:98609744_98609745insA	ENST00000359863.4	+	72	11555_11556	c.11346_11347insA	c.(11347-11349)aaafs	p.K3783fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.K3772fs|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.K3754fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3783	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGCTTGGCACAAAAAAACACA	0.55																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11344-11349)caaaaafs		transformation/transcription domain-associated protein																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98609744_98609745insA	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11353dupA	7.37:g.98609751_98609751dupA	ENSP00000352925:p.Lys3783fs		Somatic				TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.QK3753fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.QK3771fs	p.QK3782fs	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		72	11555_11556	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3782			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.11346_11347insA	CCDS59066.1																																																																																				0.550	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		15	854						15	854	---	---	---	---
AZGP1	563	broad.mit.edu	37	7	99564707	99564708	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99564707_99564708insG	ENST00000292401.4	-	4	951_952	c.815_816insC	c.(814-816)ccgfs	p.P272fs	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	272	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTGTGTCCTGCGGGGGCACTGC	0.649																																						ENST00000292401.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(814-816)ccafs		alpha-2-glycoprotein 1, zinc-binding																																				SO:0001589	frameshift_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564707_99564708insG	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.816dupC	7.37:g.99564712_99564712dupG	ENSP00000292401:p.Pro272fs		Somatic				AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	p.P272fs	NM_001185.3	NP_001176.1	WXS	Illumina GAIIx	Phase_I	P25311	ZA2G_HUMAN			4	951_952	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		272			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Frame_Shift_Ins	INS	ENST00000292401.4	37	c.815_816insC	CCDS5680.1																																																																																				0.649	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		7	1076						7	1076	---	---	---	---
AP4M1	9179	broad.mit.edu	37	7	99701730	99701731	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99701730_99701731insT	ENST00000359593.4	+	7	717_718	c.559_560insT	c.(559-561)gttfs	p.V187fs	MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Frame_Shift_Ins_p.V194fs|AP4M1_ENST00000421755.1_Frame_Shift_Ins_p.V187fs|AP4M1_ENST00000422582.1_Frame_Shift_Ins_p.V59fs|MCM7_ENST00000303887.5_5'Flank	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	187	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAGAATGAAGTTTTTTTGGAT	0.436																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(580-582)tttfs		adaptor-related protein complex 4, mu 1 subunit																																				SO:0001589	frameshift_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99701730_99701731insT	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.566dupT	7.37:g.99701737_99701737dupT	ENSP00000352603:p.Val187fs		Somatic				AP4M1_ENST00000422582.1_Frame_Shift_Ins_p.F59fs|AP4M1_ENST00000421755.1_Frame_Shift_Ins_p.F187fs|AP4M1_ENST00000359593.4_Frame_Shift_Ins_p.F187fs	p.F194fs			WXS	Illumina GAIIx	Phase_I	O00189	AP4M1_HUMAN			7	738_739	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		187			MHD.		D6W5U1|Q8WV65|Q9UHK9	Frame_Shift_Ins	INS	ENST00000359593.4	37	c.580_581insT	CCDS5685.1																																																																																				0.436	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		9	502						9	502	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs		Somatic				SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	WXS	Illumina GAIIx	Phase_I	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		53	1588						53	1588	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100002679	100002680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100002679_100002680insC	ENST00000398027.2	-	13	1454_1455	c.1207_1208insG	c.(1207-1209)gtgfs	p.V403fs	ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.V404fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.V283fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.V283fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	403							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCAGGGCCACCCCCAGTTTC	0.47																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1207-1209)ggcfs		zinc finger, CW type with PWWP domain 1																																				SO:0001589	frameshift_variant	55063						zinc ion binding	g.chr7:100002679_100002680insC	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1208dupG	7.37:g.100002684_100002684dupC	ENSP00000381109:p.Val403fs		Somatic				ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.G283fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.G283fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.G404fs	p.G403fs	NM_017984.4	NP_060454.3	WXS	Illumina GAIIx	Phase_I	Q9H0M4	ZCPW1_HUMAN			13	1454_1455	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		403					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Frame_Shift_Ins	INS	ENST00000398027.2	37	c.1207_1208insG	CCDS43623.1																																																																																				0.470	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		11	2006						11	2006	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100029247	100029248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100029247_100029248insC	ENST00000310512.2	+	1	1994_1995	c.1606_1607insC	c.(1606-1608)gccfs	p.A536fs	ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_Frame_Shift_Ins_p.A67fs|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	536	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCATCGCTGCCCCCCAAGTG	0.629																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1606-1608)cccfs		methylphosphate capping enzyme																																				SO:0001589	frameshift_variant	56257						methyltransferase activity	g.chr7:100029247_100029248insC	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1612dupC	7.37:g.100029253_100029253dupC	ENSP00000308546:p.Ala536fs		Somatic				MEPCE_ENST00000414441.1_Frame_Shift_Ins_p.P67fs	p.P536fs	NM_019606.5	NP_062552.2	WXS	Illumina GAIIx	Phase_I	Q7L2J0	MEPCE_HUMAN			1	1994_1995	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		536			Bin3-type SAM.		B3KP86|D6W5V7|Q9NPD4	Frame_Shift_Ins	INS	ENST00000310512.2	37	c.1606_1607insC	CCDS5693.1																																																																																				0.629	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			9	218						9	218	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100146456	100146457	+	Frame_Shift_Ins	INS	-	-	C	rs530378081		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100146456_100146457insC	ENST00000300176.4	+	2	355_356	c.233_234insC	c.(232-237)aaccccfs	p.NP78fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.NP78fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	78	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAGGGCTGAACCCCCCTCATC	0.51																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(232-234)accfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100146456_100146457insC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.239dupC	7.37:g.100146462_100146462dupC	ENSP00000300176:p.Asn78fs		Somatic				AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.T78fs	p.T78fs	NM_006076.4	NP_006067.3	WXS	Illumina GAIIx	Phase_I	O95081	AGFG2_HUMAN			2	355_356	+			78			Arf-GAP.		O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.233_234insC	CCDS5697.1																																																																																				0.510	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		12	1434						12	1434	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100150975	100150976	+	Frame_Shift_Ins	INS	-	-	C	rs200613398		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100150975_100150976insC	ENST00000300176.4	+	4	559_560	c.437_438insC	c.(436-441)gtccccfs	p.VP146fs	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	146	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAAGGTATGTCCCCCCAGACC	0.515																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(436-438)gccfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100150975_100150976insC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.443dupC	7.37:g.100150981_100150981dupC	ENSP00000300176:p.Val146fs		Somatic				AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	p.A146fs	NM_006076.4	NP_006067.3	WXS	Illumina GAIIx	Phase_I	O95081	AGFG2_HUMAN			4	559_560	+			146			Arf-GAP.		O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.437_438insC	CCDS5697.1																																																																																				0.515	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		17	1176						17	1176	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-129)ttccccfs	p.FP42fs	FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.FP42fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.FP30fs|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.FP80fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.FP42fs|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000498195.1_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(124-126)tccfs		F-box protein 24																																				SO:0001589	frameshift_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187685_100187686insC	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.131dupC	7.37:g.100187691_100187691dupC	ENSP00000241071:p.Phe42fs		Somatic				FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs	p.S42fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			2	447_448	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		42			F-box.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.125_126insC	CCDS5698.1																																																																																				0.569	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			26	1400						26	1400	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100192728	100192729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100192728_100192729insG	ENST00000241071.6	+	7	1278_1279	c.956_957insG	c.(955-960)caggggfs	p.QG319fs	FBXO24_ENST00000360609.2_Intron|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.QG307fs|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.QG357fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Intron|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	319					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCCAGACCAGGGGGGAGTGT	0.579																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(955-957)cggfs		F-box protein 24																																				SO:0001589	frameshift_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100192728_100192729insG	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.962dupG	7.37:g.100192734_100192734dupG	ENSP00000241071:p.Gln319fs		Somatic				PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.R357fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Intron|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.R307fs|FBXO24_ENST00000360609.2_Intron	p.R319fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			7	1278_1279	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		319					A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.956_957insG	CCDS5698.1																																																																																				0.579	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			9	772						9	772	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100198315	100198316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100198315_100198316insG	ENST00000241071.6	+	10	1858_1859	c.1536_1537insG	c.(1537-1539)gggfs	p.G513fs	FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.G501fs|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.G551fs|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	513					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAGGACCCCGGGGGGATGGC	0.658																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1534-1539)ccggggfs		F-box protein 24																																				SO:0001589	frameshift_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198315_100198316insG	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1542dupG	7.37:g.100198321_100198321dupG	ENSP00000241071:p.Gly513fs		Somatic				PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.PG550fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.PG500fs|FBXO24_ENST00000360609.2_3'UTR	p.PG512fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			10	1858_1859	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		512					A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.1536_1537insG	CCDS5698.1																																																																																				0.658	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			11	635						11	635	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100245130	100245131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100245130_100245131insG	ENST00000160382.5	-	8	801_802	c.695_696insC	c.(694-696)ccafs	p.P232fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	232					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCAGTTTGGGGGGGCACC	0.609																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(694-696)caafs		actin-like 6B																																				SO:0001589	frameshift_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100245130_100245131insG	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.696dupC	7.37:g.100245137_100245137dupG	ENSP00000160382:p.Pro232fs		Somatic					p.Q232fs	NM_016188.4	NP_057272.1	WXS	Illumina GAIIx	Phase_I	O94805	ACL6B_HUMAN			8	801_802	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		232					A4D2D0|O75421	Frame_Shift_Ins	INS	ENST00000160382.5	37	c.695_696insC	CCDS5702.1																																																																																				0.609	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		11	268						11	268	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100361617	100361617	+	RNA	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100361617delC	ENST00000348028.3	+	0	4262				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCCTTCCACTGCATTCCCC	0.597																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							60.0	61.0	61.0					7																	100361617		2127	4234	6361			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100361617delC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361617delC			Somatic				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4245	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.597	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		73	467						73	467	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459489	100459490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100459489_100459490insG	ENST00000354161.3	+	12	1792_1793	c.1667_1668insG	c.(1666-1671)aaggggfs	p.KG556fs	SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.KG556fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.KG556fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.KG467fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.KG467fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	556					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTTAAGAAGGGGGGGCTGT	0.644																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1666-1668)aggfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459489_100459490insG	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1674dupG	7.37:g.100459496_100459496dupG	ENSP00000275730:p.Lys556fs		Somatic				SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.R467fs	p.R556fs	NM_020246.3	NP_064631.2	WXS	Illumina GAIIx	Phase_I	Q9BXP2	S12A9_HUMAN			12	1792_1793	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		556					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.1667_1668insG	CCDS5707.1																																																																																				0.644	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		20	364						20	364	---	---	---	---
TRIP6	7205	broad.mit.edu	37	7	100465745	100465746	+	Frame_Shift_Ins	INS	-	-	G	rs201628297	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100465745_100465746insG	ENST00000200457.4	+	3	613_614	c.253_254insG	c.(253-255)aggfs	p.R85fs		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	85					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)					CCCTGCAGACAGGGGGGGCCTT	0.639																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(253-255)gggfs		thyroid hormone receptor interactor 6																																				SO:0001589	frameshift_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.chr7:100465745_100465746insG	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.260dupG	7.37:g.100465752_100465752dupG	ENSP00000200457:p.Arg85fs		Somatic					p.G85fs	NM_003302.2	NP_003293.2	WXS	Illumina GAIIx	Phase_I	Q15654	TRIP6_HUMAN			3	613_614	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		85					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Frame_Shift_Ins	INS	ENST00000200457.4	37	c.253_254insG	CCDS5708.1																																																																																				0.639	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		19	398						19	398	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100479331_100479332insG	ENST00000347433.4	+	4	461_462	c.303_304insG	c.(304-306)gggfs	p.G102fs	SRRT_ENST00000388793.4_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.G102fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	102					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609																																						ENST00000388793.4																			1	Deletion - Frameshift(1)	p.G104fs*45(1)	ovary(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(301-306)gcggggfs		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479331_100479332insG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.311dupG	7.37:g.100479339_100479339dupG	ENSP00000314491:p.Gly102fs		Somatic				SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs	p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	WXS	Illumina GAIIx	Phase_I	Q9BXP5	SRRT_HUMAN			4	523_524	+			101					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	ENST00000347433.4	37	c.303_304insG	CCDS34709.1																																																																																				0.609	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		60	716						60	716	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100549660	100549661	+	Frame_Shift_Ins	INS	-	-	C	rs71226713		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100549660_100549661insC	ENST00000379458.4	+	2	241_242	c.241_242insC	c.(241-243)tccfs	p.S81fs	MUC3A_ENST00000483366.1_3'UTR|MUC3A_ENST00000319509.7_5'Flank			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	81	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTCACTACCTCCCCCCATGAC	0.559																																						ENST00000379458.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(241-243)cccfs		mucin 3A, cell surface associated																																				SO:0001589	frameshift_variant	4584							g.chr7:100549660_100549661insC	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000379458.4:c.247dupC	7.37:g.100549666_100549666dupC	ENSP00000368771:p.Ser81fs		Somatic				MUC3A_ENST00000483366.1_3'UTR	p.P81fs			WXS	Illumina GAIIx	Phase_I					2	241_242	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Frame_Shift_Ins	INS	ENST00000379458.4	37	c.241_242insC																																																																																					0.559	MUC3A-201	NOVEL	basic|appris_principal	protein_coding	protein_coding		XM_001725354		10	873						10	873	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100607796	100607797	+	Frame_Shift_Ins	INS	-	-	C	rs199794409	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100607796_100607797insC	ENST00000319509.7	+	5	1943_1944	c.1943_1944insC	c.(1942-1947)agccccfs	p.SP648fs	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2313	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ATGCCCTTCAGCCCCCAGCTGG	0.614																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1942-1944)accfs		mucin 3A, cell surface associated																																				SO:0001589	frameshift_variant	4584							g.chr7:100607796_100607797insC	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1948dupC	7.37:g.100607801_100607801dupC	ENSP00000324834:p.Ser648fs		Somatic				RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA	p.T648fs			WXS	Illumina GAIIx	Phase_I					5	1943_1944	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Frame_Shift_Ins	INS	ENST00000319509.7	37	c.1943_1944insC																																																																																					0.614	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		11	2215						11	2215	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679534	100679535	+	In_Frame_Ins	INS	-	-	CTC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100679534_100679535insCTC	ENST00000306151.4	+	3	4901_4902	c.4837_4838insCTC	c.(4837-4839)tct>tCTCct	p.1613_1614insP		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1613	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCAGTTCATCTACAACCGCT	0.5																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4837-4839)tac>CTCtac		mucin 17, cell surface associated																																				SO:0001652	inframe_insertion	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679534_100679535insCTC	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	Exception_encountered	7.37:g.100679534_100679535insCTC	ENSP00000302716:p.Ser1613_Thr1614insPro		Somatic					p.1612_1613insL	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	4901_4902	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1612			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	In_Frame_Ins	INS	ENST00000306151.4	37	c.4837_4838insCTC	CCDS34711.1																																																																																				0.500	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		18	735						18	735	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682859	100682863	+	Frame_Shift_Del	DEL	CACCT	CACCT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100682859_100682863delCACCT	ENST00000306151.4	+	3	8226_8230	c.8162_8166delCACCT	c.(8161-8166)acacctfs	p.TP2721fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2721	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACACCAGCACACCTGTCACCACTT	0.468																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8161-8166)afs		mucin 17, cell surface associated																																				SO:0001589	frameshift_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682859_100682863delCACCT	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.8162_8166delCACCT	7.37:g.100682859_100682863delCACCT	ENSP00000302716:p.Thr2721fs		Somatic					p.TP2721fs	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8226_8230	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2721			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL	ENST00000306151.4	37	c.8162_8166delCACCT	CCDS34711.1																																																																																				0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1195						9	1195	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100696347	100696348	+	Frame_Shift_Ins	INS	-	-	G	rs200413820		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100696347_100696348insG	ENST00000306151.4	+	10	13248_13249	c.13184_13185insG	c.(13183-13188)gtggggfs	p.VG4395fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4395					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACGGCCTCGTGGGGGCAGGGG	0.599																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13183-13185)gggfs		mucin 17, cell surface associated																																				SO:0001589	frameshift_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696347_100696348insG	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.13189dupG	7.37:g.100696352_100696352dupG	ENSP00000302716:p.Val4395fs		Somatic					p.G4395fs	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			10	13248_13249	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4395					O14761|Q685J2|Q8TDH7	Frame_Shift_Ins	INS	ENST00000306151.4	37	c.13184_13185insG	CCDS34711.1																																																																																				0.599	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	1373						7	1373	---	---	---	---
TRIM56	81844	broad.mit.edu	37	7	100732112	100732113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100732112_100732113insC	ENST00000306085.6	+	3	1816_1817	c.1519_1520insC	c.(1519-1521)tccfs	p.S507fs		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	507					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACAAGCGGTCCCCCCGGATC	0.658																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1519-1521)cccfs		tripartite motif containing 56																																				SO:0001589	frameshift_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732112_100732113insC	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1525dupC	7.37:g.100732118_100732118dupC	ENSP00000305161:p.Ser507fs		Somatic					p.P507fs	NM_030961.1	NP_112223.1	WXS	Illumina GAIIx	Phase_I	Q9BRZ2	TRI56_HUMAN			3	1816_1817	+	Lung NSC(181;0.136)|all_lung(186;0.182)		507					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Frame_Shift_Ins	INS	ENST00000306085.6	37	c.1519_1520insC	CCDS43625.1																																																																																				0.658	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		13	481						13	481	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100816611	100816612	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100816611_100816612insG	ENST00000300303.2	-	3	740_741	c.502_503insC	c.(502-504)cggfs	p.R168fs	NAT16_ENST00000455377.1_Frame_Shift_Ins_p.R168fs	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	168	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CTTCAGCTCCCGGGGGCCCAGC	0.663																																						ENST00000300303.2																			0											c.(502-504)ggafs		N-acetyltransferase 16 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	375607						N-acetyltransferase activity	g.chr7:100816611_100816612insG	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.503dupC	7.37:g.100816616_100816616dupG	ENSP00000300303:p.Arg168fs		Somatic				NAT16_ENST00000455377.1_Frame_Shift_Ins_p.G168fs	p.G168fs	NM_198571.2	NP_940973.2	WXS	Illumina GAIIx	Phase_I	Q8N8M0	CG052_HUMAN			3	740_741	-			168			N-acetyltransferase.		B3KRS2|Q8NDR1	Frame_Shift_Ins	INS	ENST00000300303.2	37	c.502_503insC	CCDS5713.1																																																																																				0.663	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		8	1818						8	1818	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100817873	100817874	+	Frame_Shift_Ins	INS	-	-	C	rs554248246|rs201666132	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100817873_100817874insC	ENST00000300303.2	-	2	453_454	c.215_216insG	c.(214-216)ggcfs	p.G72fs	NAT16_ENST00000443096.1_Frame_Shift_Ins_p.G72fs|NAT16_ENST00000455377.1_Frame_Shift_Ins_p.G72fs	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	72	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CGCCGTAGATGCCCCCCGAGAT	0.678																																						ENST00000300303.2																			0											c.(214-216)gatfs		N-acetyltransferase 16 (GCN5-related, putative)				0,4264		0,0,2132						3.7	0.0			54	1,8253		0,1,4126	no	frameshift	C7orf52	NM_198571.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	375607						N-acetyltransferase activity	g.chr7:100817873_100817874insC	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.216dupG	7.37:g.100817879_100817879dupC	ENSP00000300303:p.Gly72fs		Somatic				NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs	p.D72fs	NM_198571.2	NP_940973.2	WXS	Illumina GAIIx	Phase_I	Q8N8M0	CG052_HUMAN			2	453_454	-			72			N-acetyltransferase.		B3KRS2|Q8NDR1	Frame_Shift_Ins	INS	ENST00000300303.2	37	c.215_216insG	CCDS5713.1																																																																																				0.678	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		15	782						15	782	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100849705	100849708	+	Frame_Shift_Del	DEL	GGCA	GGCA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100849705_100849708delGGCA	ENST00000223127.3	-	19	2469_2472	c.2071_2074delTGCC	c.(2071-2076)tgccgcfs	p.CR691fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	691	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CGCAGGAAGCGGCAGCCACCTCCC	0.672																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	GRCh37	CD085830	PLOD3	D		c.(2071-2076)gcfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100849705_100849708delGGCA	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.2071_2074delTGCC	7.37:g.100849705_100849708delGGCA	ENSP00000223127:p.Cys691fs		Somatic					p.CR691fs	NM_001084.4	NP_001075.1	WXS	Illumina GAIIx	Phase_I	O60568	PLOD3_HUMAN			19	2469_2472	-	Lung NSC(181;0.168)|all_lung(186;0.215)		691			Fe2OG dioxygenase.		B2R6W6|Q540C3	Frame_Shift_Del	DEL	ENST00000223127.3	37	c.2071_2074delTGCC	CCDS5715.1																																																																																				0.672	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			8	156						8	156	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100855840	100855841	+	Frame_Shift_Ins	INS	-	-	G	rs369736445|rs141101386	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100855840_100855841insG	ENST00000223127.3	-	9	1373_1374	c.975_976insC	c.(973-978)cccgacfs	p.D326fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	326					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTGACCCTGTCGGGGGGATAGT	0.619																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(973-978)ccacagfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100855840_100855841insG	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.976dupC	7.37:g.100855846_100855846dupG	ENSP00000223127:p.Asp326fs		Somatic					p.Q326fs	NM_001084.4	NP_001075.1	WXS	Illumina GAIIx	Phase_I	O60568	PLOD3_HUMAN			9	1373_1374	-	Lung NSC(181;0.168)|all_lung(186;0.215)		326					B2R6W6|Q540C3	Frame_Shift_Ins	INS	ENST00000223127.3	37	c.975_976insC	CCDS5715.1																																																																																				0.619	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			13	1053						13	1053	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)gggcagfs	p.Q293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(874-879)ggagccfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)			29,4225		1,27,2099						4.0	1.0			29	20,8212		0,20,4096	no	frameshift	PLOD3	NM_001084.4		1,47,6195	A1A1,A1R,RR		0.243,0.6817,0.3924				49,12437				SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100856125_100856126insC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.877dupG	7.37:g.100856132_100856132dupC	ENSP00000223127:p.Gln293fs		Somatic					p.A293fs	NM_001084.4	NP_001075.1	WXS	Illumina GAIIx	Phase_I	O60568	PLOD3_HUMAN			8	1274_1275	-	Lung NSC(181;0.168)|all_lung(186;0.215)		293					B2R6W6|Q540C3	Frame_Shift_Ins	INS	ENST00000223127.3	37	c.876_877insG	CCDS5715.1																																																																																				0.673	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			62	661						62	661	---	---	---	---
COL26A1	136227	broad.mit.edu	37	7	101183335	101183336	+	RNA	DEL	GT	GT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:101183335_101183336delGT	ENST00000397927.3	+	0	817				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											CAGCCGGTGAGTGAGGGCTGCA	0.649																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1																																						136227							g.chr7:101183335_101183336delGT	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101183335_101183336delGT			Somatic				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA		NM_133457.2	NP_597714.2	WXS	Illumina GAIIx	Phase_I					0	796	+								Q32M90	RNA	DEL	ENST00000397927.3	37																																																																																						0.649	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		71	382						71	382	---	---	---	---
MYL10	93408	broad.mit.edu	37	7	101256824	101256825	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:101256824_101256825insG	ENST00000223167.4	-	8	788_789	c.611_612insC	c.(610-612)ccafs	p.P204fs		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	204	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CGCACACATCTGGGGGAAATGC	0.569																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(610-612)cgafs		myosin, light chain 10, regulatory																																				SO:0001589	frameshift_variant	93408					mitochondrion	calcium ion binding	g.chr7:101256824_101256825insG	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.612dupC	7.37:g.101256829_101256829dupG	ENSP00000223167:p.Pro204fs		Somatic					p.R204fs	NM_138403.4	NP_612412.2	WXS	Illumina GAIIx	Phase_I	Q9BUA6	MYL10_HUMAN			8	788_789	-			204			EF-hand 3.			Frame_Shift_Ins	INS	ENST00000223167.4	37	c.611_612insC	CCDS34713.1																																																																																				0.569	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		8	1224						8	1224	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101845357	101845358	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:101845357_101845358insC	ENST00000292535.7	+	18	2818_2819	c.2780_2781insC	c.(2779-2784)gtccccfs	p.VP927fs	CUX1_ENST00000556210.1_Frame_Shift_Ins_p.VP769fs|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Frame_Shift_Ins_p.VP938fs|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.VP905fs|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.VP871fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.VP825fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	927					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGCCCTCGGTCCCCCCGCTGA	0.644																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2812-2814)gccfs		cut-like homeobox 1																																				SO:0001589	frameshift_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845357_101845358insC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2786dupC	7.37:g.101845363_101845363dupC	ENSP00000292535:p.Val927fs		Somatic				CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.A871fs|CUX1_ENST00000556210.1_Frame_Shift_Ins_p.A769fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.A905fs|CUX1_ENST00000292535.7_Frame_Shift_Ins_p.A927fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.A825fs|CUX1_ENST00000437600.4_Intron	p.A938fs	NM_001202543.1	NP_001189472.1	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			18	2833_2834	+			927					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Ins	INS	ENST00000292535.7	37	c.2813_2814insC	CCDS5721.1																																																																																				0.644	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		11	798						11	798	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107594140	107594141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:107594140_107594141insC	ENST00000222399.6	-	22	3143_3144	c.2913_2914insG	c.(2911-2916)gggtcgfs	p.S972fs	LAMB1_ENST00000393561.1_Frame_Shift_Ins_p.S996fs	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	972	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGCTGACACGACCCCCCAACTT	0.505																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2983-2988)ggcgtgfs		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107594140_107594141insC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2914dupG	7.37:g.107594146_107594146dupC	ENSP00000222399:p.Ser972fs		Somatic				LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.V972fs	p.V996fs			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			20	3169_3170	-			972			Laminin EGF-like 10.		Q14D91	Frame_Shift_Ins	INS	ENST00000222399.6	37	c.2985_2986insG	CCDS5750.1																																																																																				0.505	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	809						11	809	---	---	---	---
ST7	7982	broad.mit.edu	37	7	116869834	116869835	+	Frame_Shift_Ins	INS	-	-	C	rs150676488		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:116869834_116869835insC	ENST00000393446.2	+	14	1798_1799	c.1495_1496insC	c.(1495-1497)gccfs	p.A499fs	ST7_ENST00000393443.1_Frame_Shift_Ins_p.A475fs|ST7_ENST00000393451.3_Frame_Shift_Ins_p.A530fs|ST7_ENST00000432298.1_Frame_Shift_Ins_p.A507fs|ST7_ENST00000393447.4_Frame_Shift_Ins_p.A510fs|ST7_ENST00000323984.3_Frame_Shift_Ins_p.A553fs|ST7_ENST00000393449.1_Frame_Shift_Ins_p.A548fs|ST7_ENST00000422922.1_Frame_Shift_Ins_p.A484fs|ST7_ENST00000393444.3_Frame_Shift_Ins_p.A487fs			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTTTGTTTGCCCCCTTAAAC	0.495																																						ENST00000393443.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21						c.(1423-1425)cccfs		suppression of tumorigenicity 7																																				SO:0001589	frameshift_variant	7982					integral to membrane	binding	g.chr7:116869834_116869835insC	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1500dupC	7.37:g.116869839_116869839dupC	ENSP00000377092:p.Ala499fs		Somatic				ST7_ENST00000393444.3_Frame_Shift_Ins_p.P487fs|ST7_ENST00000432298.1_Frame_Shift_Ins_p.P507fs|ST7_ENST00000393447.4_Frame_Shift_Ins_p.P510fs|ST7_ENST00000393446.2_Frame_Shift_Ins_p.P499fs|ST7_ENST00000422922.1_Frame_Shift_Ins_p.P484fs|ST7_ENST00000393449.1_Frame_Shift_Ins_p.P548fs|ST7_ENST00000323984.3_Frame_Shift_Ins_p.P553fs|ST7_ENST00000393451.3_Frame_Shift_Ins_p.P530fs	p.P475fs			WXS	Illumina GAIIx	Phase_I	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	16	2037_2038	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		0					A8K137|B4DRQ2	Frame_Shift_Ins	INS	ENST00000393446.2	37	c.1423_1424insC																																																																																					0.495	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		8	3474						8	3474	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)cacfs	p.H720fs	GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	720					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AATGATGATGTGGGGGGGATCC	0.505										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2158-2160)catfs		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173277_126173278insG		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2159dupC	7.37:g.126173284_126173284dupG	ENSP00000344173:p.His720fs	HNSCC(24;0.065)	Somatic				GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000480995.1_5'UTR	p.H720fs			WXS	Illumina GAIIx	Phase_I	O00222	GRM8_HUMAN			9	2966_2967	-		Prostate(267;0.186)	720					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Frame_Shift_Ins	INS	ENST00000339582.2	37	c.2158_2159insC	CCDS5794.1																																																																																				0.505	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			11	161						11	161	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127240251	127240252	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:127240251_127240252insG	ENST00000265825.5	+	6	1514_1515	c.1295_1296insG	c.(1294-1299)caggggfs	p.QG432fs	FSCN3_ENST00000420086.2_Splice_Site	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	432						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCCAGCACAGGGGGGATCCT	0.574																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1294-1296)cggfs		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)																																				SO:0001589	frameshift_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127240251_127240252insG		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1301dupG	7.37:g.127240257_127240257dupG	ENSP00000265825:p.Gln432fs		Somatic				FSCN3_ENST00000420086.2_Splice_Site	p.R432fs	NM_020369.2	NP_065102.1	WXS	Illumina GAIIx	Phase_I	Q9NQT6	FSCN3_HUMAN			6	1514_1515	+			432					A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Ins	INS	ENST00000265825.5	37	c.1295_1296insG	CCDS34746.1																																																																																				0.574	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		7	719						7	719	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128486940	128486941	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:128486940_128486941insG	ENST00000325888.8	+	24	4530_4531	c.4269_4270insG	c.(4270-4272)gggfs	p.G1424fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.G1424fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1424					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACATCACCTTCGGGGGGCGGCC	0.599																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4267-4272)ttggggfs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486940_128486941insG	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4275dupG	7.37:g.128486946_128486946dupG	ENSP00000327145:p.Gly1424fs		Somatic				FLNC_ENST00000346177.6_Frame_Shift_Ins_p.LG1423fs	p.LG1423fs	NM_001458.4	NP_001449.3	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			24	4530_4531	+			1423					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Ins	INS	ENST00000325888.8	37	c.4269_4270insG	CCDS43644.1																																																																																				0.599	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			12	676						12	676	---	---	---	---
TMEM209	84928	broad.mit.edu	37	7	129813545	129813546	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:129813545_129813546insA	ENST00000397622.2	-	13	1605_1606	c.1483_1484insT	c.(1483-1485)tgcfs	p.C495fs	TMEM209_ENST00000336804.8_Frame_Shift_Ins_p.C452fs|TMEM209_ENST00000473456.1_Frame_Shift_Ins_p.C453fs|TMEM209_ENST00000462753.1_Frame_Shift_Ins_p.C494fs|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	495						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CTGATAAATGCAAAAAACATTC	0.371																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(1483-1485)catfs		transmembrane protein 209																																				SO:0001589	frameshift_variant	84928					integral to membrane		g.chr7:129813545_129813546insA		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1484dupT	7.37:g.129813551_129813551dupA	ENSP00000380747:p.Cys495fs		Somatic				TMEM209_ENST00000336804.8_Frame_Shift_Ins_p.H452fs|TMEM209_ENST00000462753.1_Frame_Shift_Ins_p.H494fs|TMEM209_ENST00000473456.1_Frame_Shift_Ins_p.H453fs	p.H495fs	NM_032842.3	NP_116231.2	WXS	Illumina GAIIx	Phase_I	Q96SK2	TM209_HUMAN			13	1605_1606	-	Melanoma(18;0.0435)		495					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Frame_Shift_Ins	INS	ENST00000397622.2	37	c.1483_1484insT	CCDS47712.1																																																																																				0.371	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		9	409						9	409	---	---	---	---
TSGA13	114960	broad.mit.edu	37	7	130357652	130357652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:130357652delT	ENST00000456951.1	-	7	1303	c.452delA	c.(451-453)aagfs	p.K151fs	TSGA13_ENST00000356588.3_Frame_Shift_Del_p.K151fs			Q96PP4	TSG13_HUMAN	testis specific, 13	151										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGATCTTAACTTTTTTTTCTG	0.453																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(451-453)agfs		testis specific, 13							173.0	164.0	167.0					7																	130357652		2203	4300	6503	SO:0001589	frameshift_variant	114960							g.chr7:130357652delT	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.452delA	7.37:g.130357652delT	ENSP00000406047:p.Lys151fs		Somatic				TSGA13_ENST00000356588.3_Frame_Shift_Del_p.K151fs	p.K151fs			WXS	Illumina GAIIx	Phase_I	Q96PP4	TSG13_HUMAN			7	1303	-	Melanoma(18;0.0435)		151					B3KSC9	Frame_Shift_Del	DEL	ENST00000456951.1	37	c.452delA	CCDS5824.1																																																																																				0.453	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		8	442						8	442	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131195812	131195813	+	Frame_Shift_Ins	INS	-	-	C	rs560608639	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:131195812_131195813insC	ENST00000378555.3	-	2	727_728	c.480_481insG	c.(478-483)gggaaafs	p.K161fs	PODXL_ENST00000537928.1_Frame_Shift_Ins_p.K161fs|PODXL_ENST00000541194.1_Frame_Shift_Ins_p.K163fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.K161fs|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	161	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGGCTGCTTTTCCCCCCAGAGT	0.525																																						ENST00000541194.1																			1	Substitution - Missense(1)	p.K161E(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(484-489)ggaaagfs		podocalyxin-like																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195812_131195813insC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.481dupG	7.37:g.131195818_131195818dupC	ENSP00000367817:p.Lys161fs		Somatic				PODXL_ENST00000378555.3_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.GK160fs	p.GK162fs	NM_001018111.2	NP_001018121.1	WXS	Illumina GAIIx	Phase_I	O00592	PODXL_HUMAN			2	743_744	-	Melanoma(18;0.162)		160			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Ins	INS	ENST00000378555.3	37	c.486_487insG	CCDS34755.1																																																																																				0.525	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		10	905						10	905	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700149	136700150	+	Frame_Shift_Ins	INS	-	-	T	rs150934226		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:136700149_136700150insT	ENST00000445907.2	+	3	1065_1066	c.537_538insT	c.(538-540)tttfs	p.F180fs	hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Frame_Shift_Ins_p.F180fs|CHRM2_ENST00000453373.1_Frame_Shift_Ins_p.F180fs|CHRM2_ENST00000401861.1_Frame_Shift_Ins_p.F180fs|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Frame_Shift_Ins_p.F180fs|CHRM2_ENST00000397608.3_Frame_Shift_Ins_p.F180fs	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	180					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCTACATTCAGTTTTTTTCCAA	0.5																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(535-540)cattttfs		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)																																			SO:0001589	frameshift_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700149_136700150insT		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.544dupT	7.37:g.136700156_136700156dupT	ENSP00000399745:p.Phe180fs		Somatic				AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Ins_p.HF179fs|CHRM2_ENST00000320658.5_Frame_Shift_Ins_p.HF179fs|CHRM2_ENST00000402486.3_Frame_Shift_Ins_p.HF179fs|CHRM2_ENST00000397608.3_Frame_Shift_Ins_p.HF179fs|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Ins_p.HF179fs|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000439694.1_RNA	p.HF179fs	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	WXS	Illumina GAIIx	Phase_I	P08172	ACM2_HUMAN			3	1065_1066	+			179					Q4VBK6|Q9P1X9	Frame_Shift_Ins	INS	ENST00000445907.2	37	c.537_538insT	CCDS5843.1																																																																																				0.500	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			7	995						7	995	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139719862	139719863	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139719862_139719863insA	ENST00000336425.5	+	17	1954_1955	c.1565_1566insA	c.(1564-1569)ccaaaafs	p.PK522fs	TBXAS1_ENST00000448866.1_Frame_Shift_Ins_p.PK522fs|TBXAS1_ENST00000263552.6_Frame_Shift_Ins_p.PK523fs|TBXAS1_ENST00000416849.2_Frame_Shift_Ins_p.PK569fs|TBXAS1_ENST00000414508.2_3'UTR|TBXAS1_ENST00000411653.1_3'UTR|TBXAS1_ENST00000436047.2_Frame_Shift_Ins_p.PK523fs|TBXAS1_ENST00000425687.1_Frame_Shift_Ins_p.PK455fs|TBXAS1_ENST00000458722.1_Frame_Shift_Ins_p.PK568fs			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	522					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GCCCTAGGTCCAAAAAATGGTG	0.441																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1567-1569)caafs		thromboxane A synthase 1 (platelet)																																				SO:0001589	frameshift_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139719862_139719863insA	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1571dupA	7.37:g.139719868_139719868dupA	ENSP00000338087:p.Pro522fs		Somatic				TBXAS1_ENST00000448866.1_Frame_Shift_Ins_p.Q522fs|TBXAS1_ENST00000411653.1_3'UTR|TBXAS1_ENST00000414508.2_3'UTR|TBXAS1_ENST00000336425.5_Frame_Shift_Ins_p.Q522fs|TBXAS1_ENST00000416849.2_Frame_Shift_Ins_p.Q569fs|TBXAS1_ENST00000458722.1_Frame_Shift_Ins_p.Q568fs|TBXAS1_ENST00000425687.1_Frame_Shift_Ins_p.Q455fs|TBXAS1_ENST00000436047.2_Frame_Shift_Ins_p.Q523fs	p.Q523fs	NM_001130966.2	NP_001124438.1	WXS	Illumina GAIIx	Phase_I	P24557	THAS_HUMAN			17	2106_2107	+	Melanoma(164;0.0142)		522					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Frame_Shift_Ins	INS	ENST00000336425.5	37	c.1568_1569insA																																																																																					0.441	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			8	423						8	423	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139790971	139790972	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139790971_139790972insT	ENST00000397560.2	-	20	2845_2846	c.2748_2749insA	c.(2746-2751)aaaggafs	p.G917fs		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		917					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTGCCATTCCTTTTTTTGGAC	0.431																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2746-2751)aagaatfs																																						SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139790971_139790972insT																												ENST00000397560.2:c.2749dupA	7.37:g.139790978_139790978dupT	ENSP00000380692:p.Gly917fs		Somatic					p.N917fs	NM_030647.1	NP_085150.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT4	KDM7_HUMAN			20	2845_2846	-	Melanoma(164;0.0142)		917					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Ins	INS	ENST00000397560.2	37	c.2748_2749insA	CCDS43658.1																																																																																				0.431	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			10	1188						10	1188	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)gggaacfs	p.N368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.N368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		368	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1099-1104)ggacttfs																																						SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139820279_139820280insC																												ENST00000397560.2:c.1102dupG	7.37:g.139820285_139820285dupC	ENSP00000380692:p.Asn368fs		Somatic				JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	p.L368fs	NM_030647.1	NP_085150.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT4	KDM7_HUMAN			8	1198_1199	-	Melanoma(164;0.0142)		368			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Ins	INS	ENST00000397560.2	37	c.1101_1102insG	CCDS43658.1																																																																																				0.356	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			8	629						8	629	---	---	---	---
RAB19	401409	broad.mit.edu	37	7	140110837	140110838	+	Intron	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140110837_140110838insC	ENST00000356407.3	+	2	269				RAB19_ENST00000275874.5_Frame_Shift_Ins_p.SP89fs|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CAAAAGATGAGCCCCCAAATCT	0.495																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(265-267)accfs		RAB19, member RAS oncogene family																																				SO:0001627	intron_variant	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140110837_140110838insC		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.202-836->C	7.37:g.140110842_140110842dupC			Somatic				RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron	p.T89fs			WXS	Illumina GAIIx	Phase_I	A4D1S5	RAB19_HUMAN			3	464_465	+	Melanoma(164;0.0142)		67					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Frame_Shift_Ins	INS	ENST00000356407.3	37	c.266_267insC	CCDS34762.2																																																																																				0.495	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			7	1203						7	1203	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140394593	140394594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140394593_140394594insC	ENST00000072869.4	+	8	2049_2050	c.1871_1872insC	c.(1870-1875)tgccccfs	p.CP624fs	NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000204307.5_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000476279.1_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000465506.1_5'Flank|ADCK2_ENST00000476491.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	624						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCCCAGTGTGCCCCCCGTGAT	0.619																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1870-1872)tccfs		aarF domain containing kinase 2																																				SO:0001589	frameshift_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394593_140394594insC	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1877dupC	7.37:g.140394599_140394599dupC	ENSP00000072869:p.Cys624fs		Somatic				NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	p.S624fs	NM_052853.3	NP_443085.2	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			8	2049_2050	+	Melanoma(164;0.00956)		624					Q96CN6|Q9Y6T5	Frame_Shift_Ins	INS	ENST00000072869.4	37	c.1871_1872insC	CCDS5861.1																																																																																				0.619	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		18	1439						18	1439	---	---	---	---
NDUFB2	4708	broad.mit.edu	37	7	140402707	140402708	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140402707_140402708insC	ENST00000476279.1	+	2	214_215	c.140_141insC	c.(139-144)ttccccfs	p.FP47fs	NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000204307.5_Frame_Shift_Ins_p.FP37fs|NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000247866.4_Frame_Shift_Ins_p.FP47fs|NDUFB2_ENST00000475276.1_Frame_Shift_Ins_p.FP20fs|NDUFB2_ENST00000471136.1_Frame_Shift_Ins_p.FP35fs|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000465506.1_Frame_Shift_Ins_p.FP47fs			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	47					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					TATAGACAGTTCCCCCAGCTGA	0.535																																						ENST00000476279.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10						c.(139-141)tccfs		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4708				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:140402707_140402708insC	AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.145dupC	7.37:g.140402712_140402712dupC	ENSP00000419087:p.Phe47fs		Somatic				NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000247866.4_Frame_Shift_Ins_p.S47fs|NDUFB2_ENST00000475276.1_Frame_Shift_Ins_p.S20fs|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000471136.1_Frame_Shift_Ins_p.S35fs|NDUFB2_ENST00000204307.5_Frame_Shift_Ins_p.S37fs|NDUFB2_ENST00000465506.1_Frame_Shift_Ins_p.S47fs	p.S47fs			WXS	Illumina GAIIx	Phase_I	O95178	NDUB2_HUMAN			2	214_215	+	Melanoma(164;0.00956)		47					Q6FGI6	Frame_Shift_Ins	INS	ENST00000476279.1	37	c.140_141insC	CCDS5862.1																																																																																				0.535	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348784.1	NM_004546		9	2420						9	2420	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140482926	140482927	+	Frame_Shift_Ins	INS	-	-	G	rs397516887		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140482926_140482927insG	ENST00000288602.6	-	10	1268_1269	c.1208_1209insC	c.(1207-1209)cctfs	p.P403fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	403					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAATGAGGCAGGGGGGGTAGC	0.431		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1207-1209)cgcfs		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001589	frameshift_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140482926_140482927insG	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1209dupC	7.37:g.140482933_140482933dupG	ENSP00000288602:p.Pro403fs		Somatic					p.R403fs	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			10	1268_1269	-	Melanoma(164;0.00956)		403					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Frame_Shift_Ins	INS	ENST00000288602.6	37	c.1208_1209insC	CCDS5863.1																																																																																				0.431	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	418						15	418	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140534611	140534612	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140534611_140534612insG	ENST00000288602.6	-	3	361_362	c.301_302insC	c.(301-303)gaafs	p.E101fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	101					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CCCCAGAGATTCCAATAACTGT	0.401		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(301-303)atcfs		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001589	frameshift_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140534611_140534612insG	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.301_302insC	7.37:g.140534611_140534612insG	ENSP00000288602:p.Glu101fs		Somatic					p.I101fs	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			3	361_362	-	Melanoma(164;0.00956)		101					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Frame_Shift_Ins	INS	ENST00000288602.6	37	c.301_302insC	CCDS5863.1																																																																																				0.401	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	881						38	881	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141726958	141726959	+	Frame_Shift_Ins	INS	-	-	G	rs112166629		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:141726958_141726959insG	ENST00000549489.2	+	9	1121_1122	c.1026_1027insG	c.(1027-1029)gggfs	p.G343fs	MGAM_ENST00000475668.2_Frame_Shift_Ins_p.G343fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	343	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACCGCACCATTGGGGGCATTCT	0.401																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1024-1029)atggggfs		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)																																			SO:0001589	frameshift_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141726958_141726959insG	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1031dupG	7.37:g.141726963_141726963dupG	ENSP00000447378:p.Gly343fs		Somatic				MGAM_ENST00000549489.2_Frame_Shift_Ins_p.MG342fs	p.MG342fs			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			9	1080_1081	+	Melanoma(164;0.0272)		342			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Ins	INS	ENST00000549489.2	37	c.1026_1027insG	CCDS47727.1																																																																																				0.401	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	1257						8	1257	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		19	946						19	946	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142627244	142627245	+	Frame_Shift_Ins	INS	-	-	AACA			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142627244_142627245insAACA	ENST00000265310.1	-	3	605_606	c.257_258insTGTT	c.(256-258)gcafs	p.-86fs	TRPV5_ENST00000442623.1_Frame_Shift_Ins_p.-86fs	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATAGAGGGCTGCTATGTGCAG	0.574																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(256-258)ggcfs		transient receptor potential cation channel, subfamily V, member 5																																				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142627244_142627245insAACA	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.257_258insTGTT	7.37:g.142627244_142627245insAACA	ENSP00000265310:p.Ala86fs		Somatic				TRPV5_ENST00000442623.1_Frame_Shift_Ins_p.G86fs	p.G86fs	NM_019841.4	NP_062815.2	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			3	605_606	-	Melanoma(164;0.059)		86					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.257_258insTGTT	CCDS5875.1																																																																																				0.574	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		11	1171						11	1171	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)gggctafs	p.L642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.5																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1921-1926)ggtagcfs		Kell blood group, metallo-endopeptidase																																				SO:0001589	frameshift_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639979_142639980insC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1924dupG	7.37:g.142639985_142639985dupC	ENSP00000347409:p.Leu642fs		Somatic					p.S642fs	NM_000420.2	NP_000411.1	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			17	2397_2398	-	Melanoma(164;0.059)		642					B2RBV4|Q96RS8|Q99885	Frame_Shift_Ins	INS	ENST00000355265.2	37	c.1923_1924insG	CCDS34766.1																																																																																				0.500	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		43	2736						43	2736	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771314	143771315	+	Start_Codon_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:143771314_143771315insG	ENST00000408898.2	+	0	40_41					NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TACAGGGAAATGGGGGGAAATC	0.441																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24								olfactory receptor, family 2, subfamily A, member 25																																				SO:0001582	initiator_codon_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771314_143771315insG		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.8dupG	7.37:g.143771320_143771320dupG			Somatic						NM_001004488.1	NP_001004488.1	WXS	Illumina GAIIx	Phase_I	A4D2G3	O2A25_HUMAN			0	40_41	+	Melanoma(164;0.0783)							B2RNC9	Translation_Start_Site	INS	ENST00000408898.2	37		CCDS43669.1																																																																																				0.441	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			9	648						9	648	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143826300	143826300	+	Frame_Shift_Del	DEL	C	C	-	rs183164379		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:143826300delC	ENST00000408899.2	+	1	150	c.95delC	c.(94-96)gccfs	p.A32fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTTTTCTCTGCCTTCTATACA	0.507																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(94-96)gcfs		olfactory receptor, family 2, subfamily A, member 14							147.0	144.0	145.0					7																	143826300		2020	4204	6224	SO:0001589	frameshift_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826300delC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.95delC	7.37:g.143826300delC	ENSP00000386137:p.Ala32fs		Somatic					p.A32fs	NM_001001659.1	NP_001001659.1	WXS	Illumina GAIIx	Phase_I	Q96R47	O2A14_HUMAN			1	150	+	Melanoma(164;0.0783)		32					Q6IF41|Q8NGT8	Frame_Shift_Del	DEL	ENST00000408899.2	37	c.95delC	CCDS43672.1																																																																																				0.507	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			51	787						51	787	---	---	---	---
NOBOX	135935	broad.mit.edu	37	7	144096189	144096190	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:144096189_144096190insG	ENST00000467773.1	-	8	1321_1322	c.1322_1323insC	c.(1321-1323)ccafs	p.P441fs	NOBOX_ENST00000223140.5_Frame_Shift_Ins_p.P324fs|NOBOX_ENST00000483238.1_Frame_Shift_Ins_p.P409fs	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	441	Pro-rich.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P409fs*25(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCTGAAGAGTGGGGGGGTCAC	0.619																																						ENST00000467773.1																			1	Deletion - Frameshift(1)	p.P409fs*25(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(1321-1323)cctfs		NOBOX oogenesis homeobox				5,3203		0,5,1599						-3.8	0.9			12	14,7026		0,14,3506	no	frameshift	NOBOX	NM_001080413.3		0,19,5105	A1A1,A1R,RR		0.1989,0.1559,0.1854				19,10229				SO:0001589	frameshift_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096189_144096190insG			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1323dupC	7.37:g.144096196_144096196dupG	ENSP00000419457:p.Pro441fs		Somatic				NOBOX_ENST00000223140.5_Frame_Shift_Ins_p.P324fs|NOBOX_ENST00000483238.1_Frame_Shift_Ins_p.P409fs	p.P441fs	NM_001080413.3	NP_001073882.3	WXS	Illumina GAIIx	Phase_I	O60393	NOBOX_HUMAN			8	1321_1322	-	Melanoma(164;0.14)		441			Pro-rich.		A6NCD3|A8MZN5	Frame_Shift_Ins	INS	ENST00000467773.1	37	c.1322_1323insC																																																																																					0.619	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		10	178						10	178	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148525897	148525898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:148525897_148525898insC	ENST00000460911.1	-	6	647_648	c.559_560insG	c.(559-561)gatfs	p.D187fs	EZH2_ENST00000320356.2_Frame_Shift_Ins_p.D187fs|EZH2_ENST00000476773.1_Frame_Shift_Ins_p.D178fs|EZH2_ENST00000478654.1_Frame_Shift_Ins_p.D178fs|EZH2_ENST00000541220.1_Frame_Shift_Ins_p.D178fs|EZH2_ENST00000350995.2_Frame_Shift_Ins_p.D148fs|EZH2_ENST00000536783.1_Frame_Shift_Ins_p.D78fs|EZH2_ENST00000483967.1_Frame_Shift_Ins_p.D178fs			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	187	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCcatcatcatcatcgtcatca	0.386			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(559-561)tgafs		enhancer of zeste homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148525897_148525898insC		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.560dupG	7.37:g.148525898_148525898dupC	ENSP00000419711:p.Asp187fs		Somatic				EZH2_ENST00000478654.1_Frame_Shift_Ins_p.*178fs|EZH2_ENST00000460911.1_Frame_Shift_Ins_p.*187fs|EZH2_ENST00000350995.2_Frame_Shift_Ins_p.*148fs|EZH2_ENST00000483967.1_Frame_Shift_Ins_p.*178fs|EZH2_ENST00000536783.1_Frame_Shift_Ins_p.*78fs|EZH2_ENST00000541220.1_Frame_Shift_Ins_p.*178fs|EZH2_ENST00000476773.1_Frame_Shift_Ins_p.*178fs	p.*187fs	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	WXS	Illumina GAIIx	Phase_I	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		6	680_681	-	Melanoma(164;0.15)		187			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Frame_Shift_Ins	INS	ENST00000460911.1	37	c.559_560insG	CCDS56516.1																																																																																				0.386	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		7	805						7	805	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149152291	149152292	+	Frame_Shift_Ins	INS	-	-	G	rs373890587		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149152291_149152292insG	ENST00000247930.4	-	2	1145_1146	c.822_823insC	c.(820-825)cccggcfs	p.G275fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCATTGCTGCCGGGGGGCAGCC	0.53																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(820-825)ccgcagfs		zinc finger protein 777																																				SO:0001589	frameshift_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152291_149152292insG	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.823dupC	7.37:g.149152297_149152297dupG	ENSP00000247930:p.Gly275fs		Somatic					p.Q275fs	NM_015694.2	NP_056509.2	WXS	Illumina GAIIx	Phase_I	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	1145_1146	-	Melanoma(164;0.165)		275					Q8N2R2|Q8N659	Frame_Shift_Ins	INS	ENST00000247930.4	37	c.822_823insC	CCDS43675.1																																																																																				0.530	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		16	986						16	986	---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149467612	149467613	+	Frame_Shift_Ins	INS	-	-	G	rs371781113		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149467612_149467613insG	ENST00000302017.3	-	3	480_481	c.67_68insC	c.(67-69)caafs	p.Q23fs	ZNF467_ENST00000484747.1_Frame_Shift_Ins_p.Q23fs	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTCACTTTGGGGGGCCATC	0.554																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(67-69)aagfs		zinc finger protein 467																																				SO:0001589	frameshift_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149467612_149467613insG	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.68dupC	7.37:g.149467618_149467618dupG	ENSP00000304769:p.Gln23fs		Somatic				ZNF467_ENST00000484747.1_Frame_Shift_Ins_p.K23fs	p.K23fs	NM_207336.1	NP_997219.1	WXS	Illumina GAIIx	Phase_I	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		3	480_481	-	Melanoma(164;0.165)|Ovarian(565;0.177)		23						Frame_Shift_Ins	INS	ENST00000302017.3	37	c.67_68insC	CCDS5899.1																																																																																				0.554	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		7	185						7	185	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149474082	149474083	+	RNA	INS	-	-	G	rs529229055		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149474082_149474083insG	ENST00000378016.2	+	0	292_293							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)			TTGCCCAGGCTGGGGGGGCGCC	0.624																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474082_149474083insG	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.149474089_149474089dupG			Somatic								WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	292_293	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	INS	ENST00000378016.2	37																																																																																						0.624	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	135						7	135	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150647510	150647511	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150647510_150647511insG	ENST00000262186.5	-	9	2547		c.e9-2		KCNH2_ENST00000330883.4_Splice_Site|KCNH2_ENST00000430723.3_Splice_Site|KCNH2_ENST00000392968.2_Splice_Site	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTTCAGCACCTGGGGGCAGGGT	0.629																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	GRCh37	CD056155	KCNH2	D		c.e7-2		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)																																			SO:0001630	splice_region_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150647510_150647511insG	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2146-2->C	7.37:g.150647515_150647515dupG			Somatic				KCNH2_ENST00000430723.3_Splice_Site|KCNH2_ENST00000330883.4_Splice_Site|KCNH2_ENST00000262186.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	2978	-	all_neural(206;0.219)							A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Splice_Site	INS	ENST00000262186.5	37		CCDS5910.1																																																																																				0.629	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	Intron	8	778						8	778	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150656678	150656679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150656678_150656679insG	ENST00000262186.5	-	3	854_855	c.453_454insC	c.(451-456)cccaccfs	p.T152fs	KCNH2_ENST00000430723.3_Frame_Shift_Ins_p.T152fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.T56fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	152					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGCCAGCTGGTGGGGGGGCCCC	0.589																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			1	Insertion - Frameshift(1)	p.T152fs*180(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	GRCh37	CD001499|CI002553|CI056214	KCNH2	D|I		c.(163-168)ccccagfs		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656678_150656679insG	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.454dupC	7.37:g.150656685_150656685dupG	ENSP00000262186:p.Thr152fs		Somatic				KCNH2_ENST00000430723.3_Frame_Shift_Ins_p.Q152fs|KCNH2_ENST00000262186.5_Frame_Shift_Ins_p.Q152fs	p.Q56fs			WXS	Illumina GAIIx	Phase_I	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1285_1286	-	all_neural(206;0.219)		152		R -> Q (in LQT2).	PAS.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000262186.5	37	c.165_166insC	CCDS5910.1																																																																																				0.589	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		33	702						33	702	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150698397	150698398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150698397_150698398insG	ENST00000484524.1	+	10	1312_1313	c.1312_1313insG	c.(1312-1314)aggfs	p.R438fs	NOS3_ENST00000461406.1_Frame_Shift_Ins_p.R232fs|NOS3_ENST00000467517.1_Frame_Shift_Ins_p.R438fs|NOS3_ENST00000297494.3_Frame_Shift_Ins_p.R438fs	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGAAGGCCAGGGGGGGCTGC	0.614																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1312-1314)gggfs		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)																																			SO:0001589	frameshift_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698397_150698398insG		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1319dupG	7.37:g.150698404_150698404dupG	ENSP00000420215:p.Arg438fs		Somatic				NOS3_ENST00000467517.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000484524.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000461406.1_Frame_Shift_Ins_p.G232fs	p.G438fs	NM_000603.4	NP_000594.2	WXS	Illumina GAIIx	Phase_I	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1669_1670	+	all_neural(206;0.219)		438			Interaction with NOSIP.		Q495E5	Frame_Shift_Ins	INS	ENST00000484524.1	37	c.1312_1313insG	CCDS55182.1																																																																																				0.614	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		15	363						15	363	---	---	---	---
ABCB8	11194	broad.mit.edu	37	7	150730885	150730887	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150730885_150730887delGAG	ENST00000297504.6	+	3	406_408	c.340_342delGAG	c.(340-342)gagdel	p.E114del	ABCB8_ENST00000358849.4_In_Frame_Del_p.E97del|ABCB8_ENST00000477719.1_In_Frame_Del_p.E97del|ABCB8_ENST00000477092.1_In_Frame_Del_p.E97del|ABCB8_ENST00000356058.4_In_Frame_Del_p.E134del|ABCB8_ENST00000498578.1_In_Frame_Del_p.E97del|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000493338.1_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	114					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GGCCCTGTGTGAGGCAGAAGAGG	0.631																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(289-291)del		ATP-binding cassette, sub-family B (MDR/TAP), member 8																																				SO:0001651	inframe_deletion	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150730885_150730887delGAG	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.340_342delGAG	7.37:g.150730885_150730887delGAG	ENSP00000297504:p.Glu114del		Somatic				ABCB8_ENST00000498578.1_In_Frame_Del_p.E97del|ABCB8_ENST00000297504.6_In_Frame_Del_p.E114del|ABCB8_ENST00000477719.1_In_Frame_Del_p.E97del|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000477092.1_In_Frame_Del_p.E97del|ABCB8_ENST00000356058.4_In_Frame_Del_p.E134del|ABCB8_ENST00000493338.1_3'UTR	p.E97del	NM_007188.3	NP_009119.2	WXS	Illumina GAIIx	Phase_I	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	382_384	+			114					A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	In_Frame_Del	DEL	ENST00000297504.6	37	c.289_291delGAG																																																																																					0.631	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		10	448						10	448	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150814456_150814457insG	ENST00000463381.1	+	4	290		c.e4-1		AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000397238.2_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.e4-1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3																																				SO:0001630	splice_region_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814456_150814457insG	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.-206-1->G	7.37:g.150814462_150814462dupG			Somatic				AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site		NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	Q96P47	AGAP3_HUMAN			4	478	+								B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Splice_Site	INS	ENST00000463381.1	37																																																																																						0.579	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	Intron	23	2257						23	2257	---	---	---	---
ASB10	136371	broad.mit.edu	37	7	150878414	150878415	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150878414_150878415insC	ENST00000420175.2	-	3	739_740	c.715_716insG	c.(715-717)gcafs	p.A239fs	ASB10_ENST00000422024.1_Frame_Shift_Ins_p.A284fs|ASB10_ENST00000275838.1_Frame_Shift_Ins_p.A239fs|ASB10_ENST00000434669.1_Frame_Shift_Ins_p.A284fs|ASB10_ENST00000377867.3_Frame_Shift_Ins_p.A224fs			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	239					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCAGGACATGCCCCCCGTCTT	0.653																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(850-852)atgfs		ankyrin repeat and SOCS box containing 10			,,	6,4258		0,6,2126					,,	5.2	0.9			34	8,8242		1,6,4118	no	frameshift,frameshift,frameshift	ASB10	NM_080871.3,NM_001142460.1,NM_001142459.1	,,	1,12,6244	A1A1,A1R,RR		0.097,0.1407,0.1119	,,	,,		14,12500				SO:0001589	frameshift_variant	136371				intracellular signal transduction			g.chr7:150878414_150878415insC	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.716dupG	7.37:g.150878420_150878420dupC	ENSP00000391137:p.Ala239fs		Somatic				ASB10_ENST00000377867.3_Frame_Shift_Ins_p.M224fs|ASB10_ENST00000275838.1_Frame_Shift_Ins_p.M239fs|ASB10_ENST00000434669.1_Frame_Shift_Ins_p.M284fs|ASB10_ENST00000420175.2_Frame_Shift_Ins_p.M239fs	p.M284fs	NM_001142459.1	NP_001135931.2	WXS	Illumina GAIIx	Phase_I	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	975_976	-			239					A0AVH0|Q6ZUL6	Frame_Shift_Ins	INS	ENST00000420175.2	37	c.850_851insG	CCDS47750.2																																																																																				0.653	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		15	622						15	622	---	---	---	---
CHPF2	54480	broad.mit.edu	37	7	150932282	150932283	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150932282_150932283insG	ENST00000035307.2	+	2	1925_1926	c.412_413insG	c.(412-414)cggfs	p.R138fs	CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.R130fs	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	138					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CACTGGGCAGCGGGGGGCCCGG	0.634																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(412-414)gggfs		chondroitin polymerizing factor 2																																				SO:0001589	frameshift_variant	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150932282_150932283insG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.418dupG	7.37:g.150932288_150932288dupG	ENSP00000035307:p.Arg138fs		Somatic				CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.G130fs	p.G138fs	NM_019015.1	NP_061888.1	WXS	Illumina GAIIx	Phase_I	Q9P2E5	CHPF2_HUMAN			2	1925_1926	+			138					B2DBD8|Q6P2I4|Q6UXD2	Frame_Shift_Ins	INS	ENST00000035307.2	37	c.412_413insG	CCDS34779.1																																																																																				0.634	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		9	657						9	657	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs		Somatic				MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	p.MG1279fs	NM_003970.2	NP_003961.2	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		12	886						12	886	---	---	---	---
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:10755815_10755816insG	ENST00000416569.2	-	3	1598_1599	c.1572_1573insC	c.(1570-1575)cccgatfs	p.D525fs	XKR6_ENST00000304437.2_Frame_Shift_Ins_p.D246fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	525						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCTCAACATCGGGGGGCAAAG	0.609																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1570-1575)ccatgtfs		XK, Kell blood group complex subunit-related family, member 6																																				SO:0001589	frameshift_variant	286046					integral to membrane		g.chr8:10755815_10755816insG	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1573dupC	8.37:g.10755821_10755821dupG	ENSP00000416707:p.Asp525fs		Somatic				XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs	p.C525fs	NM_173683.3	NP_775954.2	WXS	Illumina GAIIx	Phase_I	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1598_1599	-			525					Q8TBA0	Frame_Shift_Ins	INS	ENST00000416569.2	37	c.1572_1573insC	CCDS5978.2																																																																																				0.609	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		8	264						8	264	---	---	---	---
NEIL2	252969	broad.mit.edu	37	8	11637431	11637432	+	Frame_Shift_Ins	INS	-	-	G	rs563813073		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:11637431_11637432insG	ENST00000284503.6	+	3	1062_1063	c.463_464insG	c.(463-465)aggfs	p.R155fs	NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Frame_Shift_Ins_p.R94fs|NEIL2_ENST00000455213.2_Frame_Shift_Ins_p.R155fs|NEIL2_ENST00000436750.3_Frame_Shift_Ins_p.R155fs	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	155					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGCCAACAAGAGGGGGGACTGG	0.574								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(463-465)gggfs	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)																																				SO:0001589	frameshift_variant	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637431_11637432insG	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.469dupG	8.37:g.11637437_11637437dupG	ENSP00000284503:p.Arg155fs		Somatic				NEIL2_ENST00000455213.2_Frame_Shift_Ins_p.G155fs|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Frame_Shift_Ins_p.G94fs|NEIL2_ENST00000436750.3_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_145043.2	NP_659480.1	WXS	Illumina GAIIx	Phase_I	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	1062_1063	+	all_epithelial(15;0.103)		155					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Frame_Shift_Ins	INS	ENST00000284503.6	37	c.463_464insG	CCDS5984.1																																																																																				0.574	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		11	652						11	652	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs		Somatic				PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs	p.Q957fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		11	728						11	728	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18725321	18725322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:18725321_18725322insC	ENST00000327040.8	-	4	1598_1599	c.1496_1497insG	c.(1495-1497)ggafs	p.G499fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.G499fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	499					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGATGTCCTCCCCCTGATGT	0.495																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1495-1497)gggfs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725321_18725322insC	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1497dupG	8.37:g.18725326_18725326dupC	ENSP00000324127:p.Gly499fs		Somatic				PSD3_ENST00000327040.8_Frame_Shift_Ins_p.G499fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs	p.G499fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1598_1599	-			499					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.1496_1497insG	CCDS43720.1																																																																																				0.495	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		7	1477						7	1477	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22054259	22054260	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:22054259_22054260insC	ENST00000306385.5	+	14	2502_2503	c.1832_1833insC	c.(1831-1836)taccccfs	p.YP611fs	BMP1_ENST00000397816.3_Frame_Shift_Ins_p.YP611fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Frame_Shift_Ins_p.YP611fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	611	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCAAGGAGTACCCCCCCAACA	0.604																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1831-1833)tccfs		bone morphogenetic protein 1																																				SO:0001589	frameshift_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054259_22054260insC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1839dupC	8.37:g.22054266_22054266dupC	ENSP00000305714:p.Tyr611fs		Somatic				BMP1_ENST00000306349.8_Frame_Shift_Ins_p.S611fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Ins_p.S611fs	p.S611fs	NM_006129.4	NP_006120.1	WXS	Illumina GAIIx	Phase_I	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	14	2502_2503	+			611			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Ins	INS	ENST00000306385.5	37	c.1832_1833insC	CCDS6026.1																																																																																				0.604	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		14	79						14	79	---	---	---	---
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1681-1683)cccfs	p.P561fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.P525fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.P525fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	561					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(1678-1683)gcccccfs		dihydropyrimidinase-like 2																																				SO:0001589	frameshift_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26513183_26513184insC	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686dupC	8.37:g.26513189_26513189dupC	ENSP00000309539:p.Pro561fs		Somatic	OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	787	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	p.AP560fs	NM_001386.5	NP_001377.1	WXS	Illumina GAIIx	Phase_I	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	14	2092_2093	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	560					A8K5H2|B4DR31|D3DSS7|O00424	Frame_Shift_Ins	INS	ENST00000311151.5	37	c.1680_1681insC	CCDS6051.1																																																																																				0.644	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		15	350						15	350	---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28633353	28633354	+	Frame_Shift_Ins	INS	-	-	G	rs148560235		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:28633353_28633354insG	ENST00000521022.1	-	14	1566_1567	c.1485_1486insC	c.(1483-1488)cccgccfs	p.A496fs	INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000416984.2_Frame_Shift_Ins_p.A475fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.A472fs|INTS9_ENST00000397363.4_Frame_Shift_Ins_p.A390fs	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	496					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TAGGACATGGCGGGGGGCTGGC	0.619																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1420-1425)ccccatfs		integrator complex subunit 9																																				SO:0001589	frameshift_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28633353_28633354insG	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1486dupC	8.37:g.28633359_28633359dupG	ENSP00000429065:p.Ala496fs		Somatic				INTS9_ENST00000521022.1_Frame_Shift_Ins_p.H496fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.H472fs|INTS9_ENST00000397363.4_Frame_Shift_Ins_p.H390fs	p.H475fs	NM_001145159.2	NP_001138631.1	WXS	Illumina GAIIx	Phase_I	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	13	1781_1782	-		Ovarian(32;0.0439)	496					B7Z560|B7Z6M5|O00224|Q8TB16	Frame_Shift_Ins	INS	ENST00000521022.1	37	c.1422_1423insC	CCDS34873.1																																																																																				0.619	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		7	721						7	721	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)cccaacfs	p.N291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.N32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(868-873)ccacacfs		glutamic-oxaloacetic transaminase 1-like 1																																				SO:0001589	frameshift_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793280_37793281insG	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.871dupC	8.37:g.37793287_37793287dupG	ENSP00000303077:p.Asn291fs		Somatic				GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	p.H291fs	NM_152413.2	NP_689626.2	WXS	Illumina GAIIx	Phase_I	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	969_970	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	291					A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	c.870_871insC	CCDS47839.1																																																																																				0.609	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		14	274						14	274	---	---	---	---
IKBKB	3551	broad.mit.edu	37	8	42178341	42178342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:42178341_42178342insG	ENST00000520810.1	+	16	1853_1854	c.1667_1668insG	c.(1666-1671)caggggfs	p.QG556fs	IKBKB_ENST00000416505.2_Frame_Shift_Ins_p.QG497fs|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Frame_Shift_Ins_p.QG554fs|IKBKB_ENST00000379708.3_Frame_Shift_Ins_p.QG333fs	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	556					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|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)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GGCCGGAAGCAGGGGGGAACGC	0.594																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1666-1668)cggfs		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)																																			SO:0001589	frameshift_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42178341_42178342insG	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1673dupG	8.37:g.42178347_42178347dupG	ENSP00000430684:p.Gln556fs		Somatic				IKBKB_ENST00000416505.2_Frame_Shift_Ins_p.R497fs|IKBKB_ENST00000379708.3_Frame_Shift_Ins_p.R333fs|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Frame_Shift_Ins_p.R554fs	p.R556fs	NM_001556.2	NP_001547.1	WXS	Illumina GAIIx	Phase_I	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		16	1853_1854	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	556					B4DZ30|B4E0U4|O75327	Frame_Shift_Ins	INS	ENST00000520810.1	37	c.1667_1668insG	CCDS6128.1																																																																																				0.594	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			10	294						10	294	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs		Somatic				ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	p.P1552fs	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		7	161						7	161	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G	rs190037930		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-126)gtggggfs	p.VG41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAGATCAATGTGGGGGGCCTCA	0.564																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(121-123)gggfs		potassium voltage-gated channel, Shab-related subfamily, member 2																																				SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480091_73480092insG	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.128dupG	8.37:g.73480097_73480097dupG	ENSP00000430846:p.Val41fs		Somatic					p.G41fs	NM_004770.2	NP_004761.2	WXS	Illumina GAIIx	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	710_711	+	Breast(64;0.137)		41					Q7Z7D0|Q9BXD3	Frame_Shift_Ins	INS	ENST00000523207.1	37	c.122_123insG	CCDS6209.1																																																																																				0.564	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	699						7	699	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118832019	118832020	+	Frame_Shift_Ins	INS	-	-	G	rs17439693	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:118832019_118832020insG	ENST00000378204.2	-	6	2237_2238	c.1431_1432insC	c.(1429-1434)ccctccfs	p.S478fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	478					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGAATTTGGAGGGGGGCTTTA	0.52			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	GRCh37	CI983089	EXT1	I		c.(1429-1434)ccccaafs		exostosin glycosyltransferase 1																																				SO:0001589	frameshift_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118832019_118832020insG	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1432dupC	8.37:g.118832025_118832025dupG	ENSP00000367446:p.Ser478fs		Somatic					p.Q478fs	NM_000127.2	NP_000118.2	WXS	Illumina GAIIx	Phase_I	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		6	2237_2238	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		478					B2R7V2|Q9BVI9	Frame_Shift_Ins	INS	ENST00000378204.2	37	c.1431_1432insC	CCDS6324.1																																																																																				0.520	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		13	428						13	428	---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121457738	121457739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:121457738_121457739insG	ENST00000305949.1	+	1	73_74	c.28_29insG	c.(28-30)tggfs	p.W10fs	MRPL13_ENST00000306185.3_5'Flank	NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	10					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGGTGATCTGGGGGGAAGGA	0.589																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(28-30)gggfs		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa																																				SO:0001589	frameshift_variant	27085				cell cycle arrest			g.chr8:121457738_121457739insG		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.34dupG	8.37:g.121457744_121457744dupG	ENSP00000303398:p.Trp10fs		Somatic					p.G10fs	NM_022045.3	NP_071328.2	WXS	Illumina GAIIx	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	73_74	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		10					B4DUR5|Q9HA89	Frame_Shift_Ins	INS	ENST00000305949.1	37	c.28_29insG	CCDS6333.1																																																																																				0.589	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		7	233						7	233	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C	rs201958346		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)ggcfs	p.G339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1015-1017)gatfs		kelch-like family member 38																																				SO:0001589	frameshift_variant	340359							g.chr8:124664150_124664151insC		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1017dupG	8.37:g.124664156_124664156dupC	ENSP00000321475:p.Gly339fs		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.D339fs	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ6	KLH38_HUMAN			1	1039_1040	-			339					A0PK12	Frame_Shift_Ins	INS	ENST00000325995.7	37	c.1016_1017insG	CCDS43766.1																																																																																				0.589	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			17	817						17	817	---	---	---	---
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1				microRNA 1208																		ACCACTGTGGTGGGGGGGAGTG	0.564																																						ENST00000408334.1																			0																																																			100302281							g.chr8:129162432_129162433insG			8q24.21	2011-09-12		2008-12-18	ENSG00000221261	ENSG00000221261		"""ncRNAs / Micro RNAs"""	35274	non-coding RNA	RNA, micro				MIRN1208			Standard	NR_031613		Approved	hsa-mir-1208	uc022bbk.1				8.37:g.129162439_129162439dupG			Somatic						NR_031613.1		WXS	Illumina GAIIx	Phase_I					0	71_72	+									RNA	INS	ENST00000408334.1	37																																																																																						0.564	MIR1208-201	KNOWN	basic	miRNA	miRNA		NR_031613		16	224						16	224	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131073043	131073044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:131073043_131073044insG	ENST00000518721.1	-	28	3200_3201	c.2973_2974insC	c.(2971-2976)cccaaafs	p.K992fs	ASAP1_ENST00000357668.1_Frame_Shift_Ins_p.K992fs	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	992	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCTGTGGTTTGGGGGGCAGGT	0.574																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2971-2976)ccaaccfs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1																																				SO:0001589	frameshift_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073043_131073044insG	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2974dupC	8.37:g.131073049_131073049dupG	ENSP00000429900:p.Lys992fs		Somatic				ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T992fs	p.T992fs			WXS	Illumina GAIIx	Phase_I	Q9ULH1	ASAP1_HUMAN			27	3000_3001	-			992			Pro-rich.		B2RNV3	Frame_Shift_Ins	INS	ENST00000518721.1	37	c.2973_2974insC	CCDS6362.1																																																																																				0.574	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		11	440						11	440	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131073124	131073125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:131073124_131073125insG	ENST00000518721.1	-	28	3119_3120	c.2892_2893insC	c.(2890-2895)cccaaafs	p.K965fs	ASAP1_ENST00000357668.1_Frame_Shift_Ins_p.K965fs	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	965	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCTGTGGTTTGGGGGGCAGTT	0.599																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2890-2895)ccaaccfs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1																																				SO:0001589	frameshift_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073124_131073125insG	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2893dupC	8.37:g.131073130_131073130dupG	ENSP00000429900:p.Lys965fs		Somatic				ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T965fs	p.T965fs			WXS	Illumina GAIIx	Phase_I	Q9ULH1	ASAP1_HUMAN			27	2919_2920	-			965			Pro-rich.		B2RNV3	Frame_Shift_Ins	INS	ENST00000518721.1	37	c.2892_2893insC	CCDS6362.1																																																																																				0.599	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		8	430						8	430	---	---	---	---
SLA	6503	broad.mit.edu	37	8	134063099	134063100	+	Frame_Shift_Ins	INS	-	-	G	rs143198289	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:134063099_134063100insG	ENST00000338087.5	-	4	941_942	c.122_123insC	c.(121-123)ccgfs	p.P41fs	SLA_ENST00000524345.1_5'UTR|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Frame_Shift_Ins_p.P58fs|SLA_ENST00000395352.3_Frame_Shift_Ins_p.P58fs|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000427060.2_Frame_Shift_Ins_p.P81fs|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	41	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCGGAATATCGGGGGGCTGAT	0.525																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(121-123)catfs		Src-like-adaptor																																				SO:0001589	frameshift_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134063099_134063100insG		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.123dupC	8.37:g.134063105_134063105dupG	ENSP00000337548:p.Pro41fs		Somatic				TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Ins_p.H58fs|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000427060.2_Frame_Shift_Ins_p.H81fs|SLA_ENST00000395352.3_Frame_Shift_Ins_p.H58fs	p.H41fs	NM_001045556.2	NP_001039021.1	WXS	Illumina GAIIx	Phase_I	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		4	941_942	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	41			SH3.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Frame_Shift_Ins	INS	ENST00000338087.5	37	c.122_123insC	CCDS6370.1																																																																																				0.525	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			8	443						8	443	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs		Somatic				FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs	p.A738fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		23	1809						23	1809	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842653	14842654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14842653_14842654insC	ENST00000380880.3	-	9	2181_2182	c.1398_1399insG	c.(1396-1401)gggaaafs	p.K467fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.K468fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.K467fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	467					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAAACCCTTTCCCCCCTGAGG	0.525																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1399-1404)ggaaggfs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842653_14842654insC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1399dupG	9.37:g.14842659_14842659dupC	ENSP00000370262:p.Lys467fs		Somatic				FREM1_ENST00000380880.3_Frame_Shift_Ins_p.R467fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.R467fs	p.R468fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2216_2217	-			467					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.1401_1402insG	CCDS47952.1																																																																																				0.525	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		7	175						7	175	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14848680_14848681insG	ENST00000380880.3	-	7	2026_2027	c.1243_1244insC	c.(1243-1245)cgtfs	p.R415fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.R416fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.R415fs|RNU6-1260P_ENST00000362944.1_RNA			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1246-1248)tgtfs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848680_14848681insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1244dupC	9.37:g.14848686_14848686dupG	ENSP00000370262:p.Arg415fs		Somatic				FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs	p.C416fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	8	2061_2062	-			415					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.1246_1247insC	CCDS47952.1																																																																																				0.426	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		11	225						11	225	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18753472	18753473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:18753472_18753473insC	ENST00000380548.4	+	16	2522_2523	c.2183_2184insC	c.(2182-2187)tgccccfs	p.CP728fs		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	728	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTTTAATTGCCCCCCAGCCT	0.515																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2182-2184)tccfs		ADAMTS-like 1																																				SO:0001589	frameshift_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18753472_18753473insC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2189dupC	9.37:g.18753478_18753478dupC	ENSP00000369921:p.Cys728fs		Somatic					p.S728fs	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	16	2522_2523	+			728			TSP type-1 6.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	ENST00000380548.4	37	c.2183_2184insC	CCDS47954.1																																																																																				0.515	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	372						11	372	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2227-2229)gggfs	p.G743fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.G596fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.G700fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CGGACCTCGGAGGGGGGAAGAT	0.51																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2224-2229)ggggggfs		TEK tyrosine kinase, endothelial																																				SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204925_27204926insG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2232dupG	9.37:g.27204931_27204931dupG	ENSP00000369375:p.Gly743fs		Somatic				TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	p.GG742fs	NM_000459.3	NP_000450.2	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2668_2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	742					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.2226_2227insG	CCDS6519.1																																																																																				0.510	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			13	691						13	691	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043649	35043650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35043649_35043650insC	ENST00000312292.5	+	2	1070_1071	c.1023_1024insC	c.(1024-1026)cccfs	p.P342fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P294fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P269fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	342										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCCA	0.53																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1021-1026)ccccccfs		chromosome 9 open reading frame 131			,,,	3,4257		0,3,2127					,,,	0.8	0.0			197	0,8242		0,0,4121	no	frameshift,frameshift,frameshift,frameshift	C9orf131	NM_203299.2,NM_001040412.1,NM_001040411.1,NM_001040410.1	,,,	0,3,6248	A1A1,A1R,RR		0.0,0.0704,0.024	,,,	,,,		3,12499				SO:0001589	frameshift_variant	138724							g.chr9:35043649_35043650insC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1029dupC	9.37:g.35043655_35043655dupC	ENSP00000308279:p.Pro342fs		Somatic				C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.PP268fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.PP293fs	p.PP341fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina GAIIx	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1070_1071	+	all_epithelial(49;0.22)		341					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	ENST00000312292.5	37	c.1023_1024insC	CCDS6572.2																																																																																				0.530	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		8	1527						8	1527	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs		Somatic				PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	p.F788fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		15	278						15	278	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35092522	35092523	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35092522_35092523insC	ENST00000378617.3	-	7	1755_1756	c.1361_1362insG	c.(1360-1362)ggtfs	p.G454fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.G454fs|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	454					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCAT	0.594																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1360-1362)gacfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092522_35092523insC	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1362dupG	9.37:g.35092528_35092528dupC	ENSP00000367880:p.Gly454fs		Somatic				PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.D454fs	p.D454fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1755_1756	-			454					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.1361_1362insG	CCDS6575.1																																																																																				0.594	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		14	762						14	762	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36112460	36112461	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:36112460_36112461insA	ENST00000377966.3	+	16	2613_2614	c.2047_2048insA	c.(2047-2049)caafs	p.Q683fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	683					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2047-2049)aaafs		reversion-inducing-cysteine-rich protein with kazal motifs																																				SO:0001589	frameshift_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36112460_36112461insA	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2054dupA	9.37:g.36112467_36112467dupA	ENSP00000367202:p.Gln683fs		Somatic					p.K683fs	NM_021111.2	NP_066934.1	WXS	Illumina GAIIx	Phase_I	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		16	2613_2614	+			683					B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Ins	INS	ENST00000377966.3	37	c.2047_2048insA	CCDS6597.1																																																																																				0.416	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			13	714						13	714	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37305598	37305599	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37305598_37305599insC	ENST00000336755.5	+	5	944_945	c.838_839insC	c.(838-840)gccfs	p.A280fs	ZCCHC7_ENST00000534928.1_5'UTR|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	280						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTCCTGTCCAGCCCCCCTTTGC	0.47																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(838-840)cccfs		zinc finger, CCHC domain containing 7																																				SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37305598_37305599insC	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.844dupC	9.37:g.37305604_37305604dupC	ENSP00000337839:p.Ala280fs		Somatic				ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	p.P280fs	NM_032226.2	NP_115602.2	WXS	Illumina GAIIx	Phase_I	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	5	944_945	+			280					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS	ENST00000336755.5	37	c.838_839insC	CCDS6608.2																																																																																				0.470	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		8	486						8	486	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37746119	37746120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37746119_37746120insC	ENST00000539465.1	+	16	4683_4684	c.4090_4091insC	c.(4090-4092)gccfs	p.A1364fs	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Frame_Shift_Ins_p.A1364fs			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1364						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACACCCCATGGCCCCCCTCACC	0.649																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4090-4092)cccfs		FERM and PDZ domain containing 1																																				SO:0001589	frameshift_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746119_37746120insC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4096dupC	9.37:g.37746125_37746125dupC	ENSP00000444411:p.Ala1364fs		Somatic				FRMPD1_ENST00000377765.3_Frame_Shift_Ins_p.P1364fs|RP11-613M10.9_ENST00000540557.1_Intron	p.P1364fs			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4683_4684	+			1364					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Frame_Shift_Ins	INS	ENST00000539465.1	37	c.4090_4091insC	CCDS6612.1																																																																																				0.649	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		10	657						10	657	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75263573	75263574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:75263573_75263574insA	ENST00000297784.5	+	5	549_550	c.9_10insA	c.(10-12)aaafs	p.K4fs	TMC1_ENST00000340019.3_Frame_Shift_Ins_p.K4fs|TMC1_ENST00000396237.3_Frame_Shift_Ins_p.K4fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	4	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GGATGTCACCCAAAAAAGGTAT	0.401																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(7-12)ccaaaafs		transmembrane channel-like 1																																				SO:0001589	frameshift_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75263573_75263574insA	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.15dupA	9.37:g.75263579_75263579dupA	ENSP00000297784:p.Lys4fs		Somatic				TMC1_ENST00000396237.3_Frame_Shift_Ins_p.PK3fs|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.PK3fs	p.PK3fs	NM_138691.2	NP_619636.2	WXS	Illumina GAIIx	Phase_I	Q8TDI8	TMC1_HUMAN			5	549_550	+			3					A8MVZ2|B1AM91	Frame_Shift_Ins	INS	ENST00000297784.5	37	c.9_10insA	CCDS6643.1																																																																																				0.401	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			12	1751						12	1751	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78686773	78686774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:78686773_78686774insC	ENST00000545128.1	+	7	1391_1392	c.853_854insC	c.(853-855)gccfs	p.A285fs	PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.A285fs|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.A285fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	285	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACGGACCAGCCCCCCTCACC	0.515																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(853-855)cccfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001589	frameshift_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686773_78686774insC		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.859dupC	9.37:g.78686779_78686779dupC	ENSP00000446280:p.Ala285fs		Somatic				PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.P285fs|PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.P285fs	p.P285fs	NM_001190482.1	NP_001177411.1	WXS	Illumina GAIIx	Phase_I	Q92824	PCSK5_HUMAN			7	1391_1392	+			285			Catalytic.		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.853_854insC	CCDS55320.1																																																																																				0.515	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	1807						24	1807	---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91956314	91956315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:91956314_91956315insG	ENST00000375807.3	+	10	1426_1427	c.1355_1356insG	c.(1354-1359)ttggggfs	p.LG452fs	SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.LG379fs|SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.LG384fs	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	452					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CAGTTGGACTTGGGGGGCATGC	0.421																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1354-1356)tggfs		SECIS binding protein 2																																				SO:0001589	frameshift_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91956314_91956315insG	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1361dupG	9.37:g.91956320_91956320dupG	ENSP00000364965:p.Leu452fs		Somatic				SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.W384fs|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.W379fs	p.W452fs	NM_024077.3	NP_076982.3	WXS	Illumina GAIIx	Phase_I	Q96T21	SEBP2_HUMAN			10	1426_1427	+			452					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Frame_Shift_Ins	INS	ENST00000375807.3	37	c.1355_1356insG	CCDS6683.1																																																																																				0.421	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		7	161						7	161	---	---	---	---
C9orf129	445577	broad.mit.edu	37	9	96080811	96080812	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:96080811_96080812insC	ENST00000375419.1	-	5	822_823	c.459_460insG	c.(457-462)gggcatfs	p.H154fs	WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395475.2_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	154										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						GAGCAGACATGCCCCCCATGCC	0.599																																						ENST00000375419.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						c.(457-462)ggatgtfs		chromosome 9 open reading frame 129																																				SO:0001589	frameshift_variant	445577							g.chr9:96080811_96080812insC		CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.460dupG	9.37:g.96080817_96080817dupC	ENSP00000364568:p.His154fs		Somatic				WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395477.2_Intron	p.C154fs	NM_001098808.1	NP_001092278.1	WXS	Illumina GAIIx	Phase_I	Q5T035	CI129_HUMAN			5	822_823	-			154						Frame_Shift_Ins	INS	ENST00000375419.1	37	c.459_460insG	CCDS43850.1																																																																																				0.599	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053147.1	NM_001098808		17	1622						17	1622	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs		Somatic				MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	WXS	Illumina GAIIx	Phase_I	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		11	266						11	266	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs		Somatic					p.V592fs	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		31	436						31	436	---	---	---	---
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G	rs554733063		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)cagfs	p.Q132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(394-396)ggafs		chromosome 9 open reading frame 152																																				SO:0001589	frameshift_variant	401546							g.chr9:112963553_112963554insG	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.395dupC	9.37:g.112963559_112963559dupG	ENSP00000383456:p.Gln132fs		Somatic				C9orf152_ENST00000473442.1_Intron	p.G132fs	NM_001012993.2	NP_001013011.2	WXS	Illumina GAIIx	Phase_I	Q5JTZ5	CI152_HUMAN			2	1003_1004	-			132					A8MWT6	Frame_Shift_Ins	INS	ENST00000400613.4	37	c.394_395insC	CCDS35102.2																																																																																				0.564	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		17	1132						17	1132	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117121990	117121991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:117121990_117121991insC	ENST00000307564.4	-	11	2536_2537	c.2375_2376insG	c.(2374-2376)ggafs	p.G792fs	AKNA_ENST00000312033.3_Frame_Shift_Ins_p.G792fs|AKNA_ENST00000374088.3_Frame_Shift_Ins_p.G792fs|AKNA_ENST00000374075.5_Frame_Shift_Ins_p.G711fs|AKNA_ENST00000223791.3_Frame_Shift_Ins_p.G252fs	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	792	PEST.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGAGTCACCTCccccctcttc	0.584																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(2374-2376)gggfs		AT-hook transcription factor																																				SO:0001589	frameshift_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117121990_117121991insC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2376dupG	9.37:g.117121996_117121996dupC	ENSP00000303769:p.Gly792fs		Somatic				AKNA_ENST00000374088.3_Frame_Shift_Ins_p.G792fs|AKNA_ENST00000312033.3_Frame_Shift_Ins_p.G792fs|AKNA_ENST00000223791.3_Frame_Shift_Ins_p.G252fs|AKNA_ENST00000374075.5_Frame_Shift_Ins_p.G711fs	p.G792fs	NM_030767.4	NP_110394.3	WXS	Illumina GAIIx	Phase_I	Q7Z591	AKNA_HUMAN			11	2536_2537	-			792			PEST.		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Frame_Shift_Ins	INS	ENST00000307564.4	37	c.2375_2376insG	CCDS6805.1																																																																																				0.584	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		9	324						9	324	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs		Somatic				PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		22	770						22	770	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123912689	123912690	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123912689_123912690insC	ENST00000373855.1	+	25	4151_4152	c.3891_3892insC	c.(3892-3894)cccfs	p.P1298fs	CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.P1298fs|CNTRL_ENST00000373847.1_Frame_Shift_Ins_p.P746fs|CNTRL_ENST00000373850.1_Frame_Shift_Ins_p.P746fs			Q7Z7A1	CNTRL_HUMAN	centriolin	1298	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGGGCCTCCACCCCCCAACTT	0.55																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(3889-3894)ccccccfs		centriolin																																				SO:0001589	frameshift_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123912689_123912690insC	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3897dupC	9.37:g.123912695_123912695dupC	ENSP00000362962:p.Pro1298fs		Somatic				CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.PP1297fs|CNTRL_ENST00000373847.1_Frame_Shift_Ins_p.PP745fs|CNTRL_ENST00000373850.1_Frame_Shift_Ins_p.PP745fs	p.PP1297fs			WXS	Illumina GAIIx	Phase_I	Q7Z7A1	CNTRL_HUMAN			25	4151_4152	+			1297			Pro-rich.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Frame_Shift_Ins	INS	ENST00000373855.1	37	c.3891_3892insC	CCDS35118.1																																																																																				0.550	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	181						8	181	---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127982851	127982852	+	Frame_Shift_Ins	INS	-	-	C	rs546948946	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:127982851_127982852insC	ENST00000373538.3	+	5	708_709	c.398_399insC	c.(397-402)agccccfs	p.SP133fs	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Frame_Shift_Ins_p.SP82fs|RABEPK_ENST00000394125.4_Frame_Shift_Ins_p.SP133fs|RABEPK_ENST00000373544.1_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	133					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GAAGTGACCAGCCCCCCACCAT	0.574																																						ENST00000373538.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(397-399)accfs		Rab9 effector protein with kelch motifs																																				SO:0001589	frameshift_variant	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127982851_127982852insC	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.404dupC	9.37:g.127982857_127982857dupC	ENSP00000362639:p.Ser133fs		Somatic				RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000373544.1_3'UTR|RABEPK_ENST00000394125.4_Frame_Shift_Ins_p.T133fs|RABEPK_ENST00000259460.8_Frame_Shift_Ins_p.T82fs	p.T133fs	NM_005833.3	NP_005824.2	WXS	Illumina GAIIx	Phase_I	Q7Z6M1	RABEK_HUMAN			5	708_709	+			133					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Frame_Shift_Ins	INS	ENST00000373538.3	37	c.398_399insC	CCDS6862.1																																																																																				0.574	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		8	734						8	734	---	---	---	---
ST6GALNAC6	30815	broad.mit.edu	37	9	130649773	130649774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:130649773_130649774insG	ENST00000373146.1	-	6	980_981	c.801_802insC	c.(799-804)cccaacfs	p.N268fs	RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000542456.1_Frame_Shift_Ins_p.N68fs|ST6GALNAC6_ENST00000373142.1_Frame_Shift_Ins_p.N268fs|ST6GALNAC6_ENST00000373144.3_Frame_Shift_Ins_p.N234fs|ST6GALNAC6_ENST00000291839.5_Frame_Shift_Ins_p.N268fs|ST6GALNAC6_ENST00000373141.1_Frame_Shift_Ins_p.N234fs|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	268					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGTAGTTGGGGGGGACCA	0.604																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(799-804)ccactafs		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6																																				SO:0001589	frameshift_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130649773_130649774insG	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.802dupC	9.37:g.130649780_130649780dupG	ENSP00000362239:p.Asn268fs		Somatic				ST6GALNAC6_ENST00000373141.1_Frame_Shift_Ins_p.L234fs|ST6GALNAC6_ENST00000542456.1_Frame_Shift_Ins_p.L68fs|ST6GALNAC6_ENST00000373144.3_Frame_Shift_Ins_p.L234fs|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Frame_Shift_Ins_p.L268fs|ST6GALNAC6_ENST00000291839.5_Frame_Shift_Ins_p.L268fs	p.L268fs			WXS	Illumina GAIIx	Phase_I	Q969X2	SIA7F_HUMAN			6	980_981	-			268					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Frame_Shift_Ins	INS	ENST00000373146.1	37	c.801_802insC	CCDS6882.1																																																																																				0.604	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		13	146						13	146	---	---	---	---
CERCAM	51148	broad.mit.edu	37	9	131186543	131186544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131186543_131186544insC	ENST00000372838.4	+	4	951_952	c.553_554insC	c.(553-555)accfs	p.T185fs	CERCAM_ENST00000372842.1_Frame_Shift_Ins_p.T107fs	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	185					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GTGTGGGATCACCCCCCAGGTG	0.634																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(319-321)cccfs		cerebral endothelial cell adhesion molecule																																				SO:0001589	frameshift_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131186543_131186544insC	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.559dupC	9.37:g.131186549_131186549dupC	ENSP00000361929:p.Thr185fs		Somatic				CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.P185fs	p.P107fs			WXS	Illumina GAIIx	Phase_I	Q5T4B2	GT253_HUMAN			5	3463_3464	+			185					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Frame_Shift_Ins	INS	ENST00000372838.4	37	c.319_320insC	CCDS6901.2																																																																																				0.634	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		10	550						10	550	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131750356	131750357	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131750356_131750357delGC	ENST00000372577.2	+	24	2445_2446	c.2424_2425delGC	c.(2422-2427)cagctgfs	p.QL808fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	808					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGCAGGGCCAGCTGCTGATCAA	0.505																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2422-2427)catgfs		nucleoporin 188kDa																																				SO:0001589	frameshift_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131750356_131750357delGC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2424_2425delGC	9.37:g.131750356_131750357delGC	ENSP00000361658:p.Gln808fs		Somatic					p.QL808fs	NM_015354.1	NP_056169.1	WXS	Illumina GAIIx	Phase_I	Q5SRE5	NU188_HUMAN			24	2445_2446	+			808					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Frame_Shift_Del	DEL	ENST00000372577.2	37	c.2424_2425delGC	CCDS35156.1																																																																																				0.505	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			33	846						33	846	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)gggaagfs	p.K166fs	RP11-247A12.1_ENST00000434250.1_RNA|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(493-498)ggagccfs		carnitine O-acetyltransferase	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864813_131864814insC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.496dupG	9.37:g.131864820_131864820dupC	ENSP00000315013:p.Lys166fs		Somatic				CRAT_ENST00000464290.1_5'UTR	p.A166fs	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	WXS	Illumina GAIIx	Phase_I	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	789_790	-			166					Q5T952|Q9BW16	Frame_Shift_Ins	INS	ENST00000318080.2	37	c.495_496insG	CCDS6919.1																																																																																				0.609	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			32	796						32	796	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133936593	133936594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:133936593_133936594insC	ENST00000361069.4	+	13	2463_2464	c.2330_2331insC	c.(2329-2334)tgccccfs	p.CP777fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	777	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTACCCACTGCCCCCCGGGCC	0.698																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2329-2331)tccfs		laminin, gamma 3																																				SO:0001589	frameshift_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133936593_133936594insC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2336dupC	9.37:g.133936599_133936599dupC	ENSP00000354360:p.Cys777fs		Somatic				LAMC3_ENST00000480883.1_Intron	p.S777fs	NM_006059.3	NP_006050.3	WXS	Illumina GAIIx	Phase_I	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	13	2463_2464	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	777			Laminin EGF-like 7.		B1APX9|B1APY0|Q59H72	Frame_Shift_Ins	INS	ENST00000361069.4	37	c.2330_2331insC	CCDS6938.1																																																																																				0.698	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		8	116						8	116	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135145037	135145037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:135145037delT	ENST00000224140.5	-	25	7434	c.7252delA	c.(7252-7254)agcfs	p.S2418fs	SETX_ENST00000393220.1_Frame_Shift_Del_p.S2385fs|SETX_ENST00000372169.2_Frame_Shift_Del_p.S2418fs|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2418					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGAAGAGGCTGTACTTGGCT	0.413																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(7252-7254)gcfs		senataxin							341.0	318.0	325.0					9																	135145037		2203	4300	6503	SO:0001589	frameshift_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135145037delT	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7252delA	9.37:g.135145037delT	ENSP00000224140:p.Ser2418fs		Somatic				SETX_ENST00000224140.5_Frame_Shift_Del_p.S2418fs|SETX_ENST00000393220.1_Frame_Shift_Del_p.S2385fs|SETX_ENST00000477049.1_5'UTR	p.S2418fs			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	25	7434	-		Myeloproliferative disorder(178;0.204)	2418					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Frame_Shift_Del	DEL	ENST00000224140.5	37	c.7252delA	CCDS6947.1																																																																																				0.413	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	1437						7	1437	---	---	---	---
SURF2	6835	broad.mit.edu	37	9	136226961	136226962	+	Frame_Shift_Ins	INS	-	-	G	rs201774272		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:136226961_136226962insG	ENST00000371964.4	+	4	514_515	c.473_474insG	c.(472-477)gaggggfs	p.EG158fs	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	158						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TCCAGTGATGAGGGGGGAGCTG	0.639																																						ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(472-474)gggfs		surfeit 2																																				SO:0001589	frameshift_variant	6835						protein binding	g.chr9:136226961_136226962insG		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.479dupG	9.37:g.136226967_136226967dupG	ENSP00000361032:p.Glu158fs		Somatic				SURF2_ENST00000495524.1_3'UTR	p.G158fs	NM_017503.3	NP_059973.3	WXS	Illumina GAIIx	Phase_I	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	4	514_515	+			158					Q6IBP9|Q96CD1	Frame_Shift_Ins	INS	ENST00000371964.4	37	c.473_474insG	CCDS6967.1																																																																																				0.639	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		7	378						7	378	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1456-1458)cccfs	p.P486fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.49																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1453-1458)atccccfs		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa																																				SO:0001589	frameshift_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006928_8006929insC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1461dupC	10.37:g.8006934_8006934dupC	ENSP00000340271:p.Pro486fs		Somatic					p.IP485fs	NM_031923.3	NP_114129.1	WXS	Illumina GAIIx	Phase_I	Q5VWG9	TAF3_HUMAN			3	1661_1662	+			485					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Ins	INS	ENST00000344293.5	37	c.1455_1456insC	CCDS41487.1																																																																																				0.490	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		12	534						12	534	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:24832466_24832467insC	ENST00000376454.3	+	19	4297_4298	c.4267_4268insC	c.(4267-4269)accfs	p.T1423fs	KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.T1106fs|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1423					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAGAGATGACCCCCCGACAA	0.495																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3316-3318)cccfs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832466_24832467insC	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4273dupC	10.37:g.24832472_24832472dupC	ENSP00000365637:p.Thr1423fs		Somatic				KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron	p.P1106fs			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			14	3576_3577	+			1423					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Ins	INS	ENST00000376454.3	37	c.3316_3317insC	CCDS31165.1																																																																																				0.495	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		7	371						7	371	---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27437919	27437920	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:27437919_27437920insT	ENST00000326799.3	-	2	231_232	c.83_84insA	c.(82-84)aacfs	p.N28fs	YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.N28fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	28					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAACAGAAGTGTTTTTTGGTGT	0.381																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(82-84)aacfs		YME1-like 1 ATPase																																				SO:0001589	frameshift_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437919_27437920insT	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.84dupA	10.37:g.27437925_27437925dupT	ENSP00000318480:p.Asn28fs		Somatic				YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.N28fs	p.N28fs	NM_139312.2	NP_647473.1	WXS	Illumina GAIIx	Phase_I	Q96TA2	YMEL1_HUMAN			2	231_232	-			28					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Ins	INS	ENST00000326799.3	37	c.83_84insA	CCDS7152.1																																																																																				0.381	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		11	1461						11	1461	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30315988	30315989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:30315988_30315989insC	ENST00000375377.1	-	3	3189_3190	c.3088_3089insG	c.(3088-3090)gcafs	p.A1030fs		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1030					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGGAGCCCTGCCCCCCTCTCT	0.584																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3088-3090)aggfs		KIAA1462																																				SO:0001589	frameshift_variant	57608							g.chr10:30315988_30315989insC	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3089dupG	10.37:g.30315994_30315994dupC	ENSP00000364526:p.Ala1030fs		Somatic					p.R1030fs	NM_020848.2	NP_065899.1	WXS	Illumina GAIIx	Phase_I	Q9P266	K1462_HUMAN			3	3189_3190	-			1030					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Frame_Shift_Ins	INS	ENST00000375377.1	37	c.3088_3089insG	CCDS41500.1																																																																																				0.584	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		8	318						8	318	---	---	---	---
LYZL2	119180	broad.mit.edu	37	10	30900901	30900902	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:30900901_30900902insT	ENST00000375318.2	-	5	623_624	c.567_568insA	c.(565-570)aaagacfs	p.D190fs		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	144					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ACCTCACAGTCTTTTTTCCAGT	0.52																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(565-570)aaactgfs		lysozyme-like 2																																				SO:0001589	frameshift_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30900901_30900902insT	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.568dupA	10.37:g.30900907_30900907dupT	ENSP00000364467:p.Asp190fs		Somatic					p.L190fs	NM_183058.2	NP_898881.2	WXS	Illumina GAIIx	Phase_I	Q7Z4W2	LYZL2_HUMAN			5	623_624	-		Prostate(175;0.151)	144					Q6NZ69	Frame_Shift_Ins	INS	ENST00000375318.2	37	c.567_568insA	CCDS7167.2																																																																																				0.520	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		7	1788						7	1788	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33208968	33208969	+	Frame_Shift_Ins	INS	-	-	T	rs200632770		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:33208968_33208969insT	ENST00000396033.2	-	11	1448_1449	c.1313_1314insA	c.(1312-1314)aagfs	p.K438fs	ITGB1_ENST00000374956.4_Frame_Shift_Ins_p.K438fs|ITGB1_ENST00000423113.1_Frame_Shift_Ins_p.K438fs|ITGB1_ENST00000302278.3_Frame_Shift_Ins_p.K438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	438					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGTCAGAATCCTTTTTTGGACA	0.342																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1312-1314)agafs		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)																																				SO:0001589	frameshift_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33208968_33208969insT	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1314dupA	10.37:g.33208974_33208974dupT	ENSP00000379350:p.Lys438fs		Somatic				ITGB1_ENST00000302278.3_Frame_Shift_Ins_p.R438fs|ITGB1_ENST00000423113.1_Frame_Shift_Ins_p.R438fs|ITGB1_ENST00000374956.4_Frame_Shift_Ins_p.R438fs	p.R438fs	NM_133376.2	NP_596867.1	WXS	Illumina GAIIx	Phase_I	P05556	ITB1_HUMAN			11	1448_1449	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	438					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Frame_Shift_Ins	INS	ENST00000396033.2	37	c.1313_1314insA	CCDS7174.1																																																																																				0.342	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		7	279						7	279	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088648	43088649	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:43088648_43088649delGA	ENST00000359467.3	-	5	1863_1864	c.1749_1750delTC	c.(1747-1752)tgtcatfs	p.CH583fs	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCACATTCATGACATTCATAGG	0.366																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1747-1752)tgatfs		zinc finger protein 33B																																				SO:0001589	frameshift_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088648_43088649delGA	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1749_1750delTC	10.37:g.43088648_43088649delGA	ENSP00000352444:p.Cys583fs		Somatic				ZNF33B_ENST00000486187.1_RNA	p.CH583fs	NM_006955.1	NP_008886.1	WXS	Illumina GAIIx	Phase_I	Q06732	ZN33B_HUMAN			5	1863_1864	-			583					Q06731|Q32MA2|Q86XY8|Q8NDW3	Frame_Shift_Del	DEL	ENST00000359467.3	37	c.1749_1750delTC	CCDS7198.1																																																																																				0.366	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		16	422						16	422	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47087813	47087814	+	Frame_Shift_Ins	INS	-	-	C	rs137962741|rs555663093	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:47087813_47087814insC	ENST00000395716.1	+	2	1115_1116	c.1030_1031insC	c.(1030-1032)gccfs	p.A344fs	NPY4R_ENST00000374312.1_Frame_Shift_Ins_p.A344fs			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	344					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCAGCAGAGCGCCCCCCTGGAG	0.559																																						ENST00000374312.1																			0											c.(1030-1032)cccfs		neuropeptide Y receptor Y4																																				SO:0001589	frameshift_variant	5540							g.chr10:47087813_47087814insC		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1036dupC	10.37:g.47087819_47087819dupC	ENSP00000379066:p.Ala344fs		Somatic				NPY4R_ENST00000395716.1_Frame_Shift_Ins_p.P344fs	p.P344fs	NM_005972.4	NP_005963.3	WXS	Illumina GAIIx	Phase_I					3	1449_1450	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Frame_Shift_Ins	INS	ENST00000395716.1	37	c.1030_1031insC	CCDS31193.1																																																																																				0.559	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			7	662						7	662	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:51586311_51586312insC	ENST00000443446.1	+	9	1968_1969	c.1739_1740insC	c.(1738-1743)ttccccfs	p.FP580fs	NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.FP414fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.FP480fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000452682.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.S535fs	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1786-1788)tccfs		nuclear receptor coactivator 4																																				SO:0001589	frameshift_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51586311_51586312insC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1745dupC	10.37:g.51586317_51586317dupC	ENSP00000390713:p.Phe580fs		Somatic				NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs	p.S596fs	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	Q13772	NCOA4_HUMAN			10	2039_2040	+			580					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Frame_Shift_Ins	INS	ENST00000443446.1	37	c.1787_1788insC	CCDS7237.1																																																																																				0.416	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		8	390						8	390	---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	71018586	71018587	+	Frame_Shift_Ins	INS	-	-	G	rs569608023		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:71018586_71018587insG	ENST00000354624.5	+	15	2220_2221	c.2087_2088insG	c.(2086-2091)gaggggfs	p.EG696fs	HKDC1_ENST00000395086.2_Frame_Shift_Ins_p.EG696fs	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	696	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGATGGTGGAGGGGGGTGAAG	0.5																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2086-2088)gggfs		hexokinase domain containing 1																																				SO:0001589	frameshift_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71018586_71018587insG		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2093dupG	10.37:g.71018592_71018592dupG	ENSP00000346643:p.Glu696fs		Somatic				HKDC1_ENST00000395086.2_Frame_Shift_Ins_p.G696fs	p.G696fs	NM_025130.3	NP_079406.3	WXS	Illumina GAIIx	Phase_I	Q2TB90	HKDC1_HUMAN			15	2220_2221	+			696					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Frame_Shift_Ins	INS	ENST00000354624.5	37	c.2087_2088insG	CCDS7288.1																																																																																				0.500	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		9	556						9	556	---	---	---	---
NODAL	4838	broad.mit.edu	37	10	72192769	72192769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:72192769delT	ENST00000287139.3	-	3	966	c.967delA	c.(967-969)atgfs	p.M323fs	AC022532.1_ENST00000420338.2_5'Flank	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	323					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						ACATACAGCATGCTCAGCGGC	0.522																																						ENST00000287139.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						c.(967-969)tgfs		nodal growth differentiation factor							244.0	201.0	215.0					10																	72192769		2203	4300	6503	SO:0001589	frameshift_variant	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72192769delT	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.967delA	10.37:g.72192769delT	ENSP00000287139:p.Met323fs		Somatic					p.M323fs	NM_018055.4	NP_060525.3	WXS	Illumina GAIIx	Phase_I	Q96S42	NODAL_HUMAN			3	966	-			323					Q2M3A5|Q8N4V3	Frame_Shift_Del	DEL	ENST00000287139.3	37	c.967delA	CCDS7304.1																																																																																				0.522	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		9	1219						9	1219	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75408422	75408423	+	Frame_Shift_Ins	INS	-	-	G	rs79048905	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:75408422_75408423insG	ENST00000394810.2	-	4	1136_1137	c.987_988insC	c.(985-990)cccacgfs	p.T330fs	SYNPO2L_ENST00000372873.4_Frame_Shift_Ins_p.T106fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	330						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GACTCACTCGTGGGGGGAACGC	0.594																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(985-990)cccgagfs		synaptopodin 2-like																																				SO:0001589	frameshift_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75408422_75408423insG	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.988dupC	10.37:g.75408428_75408428dupG	ENSP00000378289:p.Thr330fs		Somatic				SYNPO2L_ENST00000372872.4_Frame_Shift_Ins_p.E330fs|SYNPO2L_ENST00000372873.4_Frame_Shift_Ins_p.E106fs	p.E330fs	NM_001114133.1	NP_001107605.1	WXS	Illumina GAIIx	Phase_I	Q9H987	SYP2L_HUMAN			4	1136_1137	-	Prostate(51;0.0112)		330					A5PKV9|Q68A20	Frame_Shift_Ins	INS	ENST00000394810.2	37	c.987_988insC	CCDS44438.1																																																																																				0.594	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		11	481						11	481	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	62	1356						62	1356	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5641-5643)cccfs	p.P1881fs	KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.P1698fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.P1589fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1881	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCATGACCCCACCCCCCAACCT	0.535																																						ENST00000287239.4																			0											c.(5638-5643)ccccccfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76790222_76790223insC	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5646dupC	10.37:g.76790228_76790228dupC	ENSP00000287239:p.Pro1881fs		Somatic				KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.PP1588fs	p.PP1880fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	WXS	Illumina GAIIx	Phase_I	Q8WYB5	MYST4_HUMAN			18	6129_6130	+			1880			Interaction with RUNX1 and RUNX2.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Ins	INS	ENST00000287239.4	37	c.5640_5641insC	CCDS7345.1																																																																																				0.535	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		20	530						20	530	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78943215	78943216	+	Frame_Shift_Ins	INS	-	-	G	rs367642241		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:78943215_78943216insG	ENST00000286628.8	-	5	770_771	c.771_772insC	c.(769-774)cccgtgfs	p.V258fs	KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000286627.5_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.V258fs	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	258					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GACACAAACACGGGGGGCACCG	0.455																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(769-774)cctgttfs		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)																																			SO:0001589	frameshift_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78943215_78943216insG	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.772dupC	10.37:g.78943221_78943221dupG	ENSP00000286628:p.Val258fs		Somatic				KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.V258fs	p.V258fs	NM_002247.3	NP_002238.2	WXS	Illumina GAIIx	Phase_I	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		5	1723_1724	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		258					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Frame_Shift_Ins	INS	ENST00000286628.8	37	c.771_772insC																																																																																					0.455	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		8	181						8	181	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81050758	81050758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:81050758delC	ENST00000334512.5	+	10	1155	c.583delC	c.(583-585)ccafs	p.P195fs	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	195					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCCATGAATCCAGGCGGCAA	0.607																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(583-585)cafs		zinc finger, MIZ-type containing 1							119.0	100.0	107.0					10																	81050758		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050758delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.583delC	10.37:g.81050758delC	ENSP00000334474:p.Pro195fs		Somatic				ZMIZ1_ENST00000478357.1_3'UTR	p.P195fs	NM_020338.3	NP_065071.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1155	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		195					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.583delC	CCDS7357.1																																																																																				0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		62	360						62	360	---	---	---	---
IFIT3	3437	broad.mit.edu	37	10	91099579	91099580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:91099579_91099580insA	ENST00000371818.4	+	2	1347_1348	c.1167_1168insA	c.(1168-1170)aaafs	p.K390fs	IFIT3_ENST00000371811.4_Frame_Shift_Ins_p.K390fs|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	390					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TGTCCATAAGCAAAAAATCAAC	0.391																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(1165-1170)agaaaafs		interferon-induced protein with tetratricopeptide repeats 3																																				SO:0001589	frameshift_variant	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099579_91099580insA	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1173dupA	10.37:g.91099585_91099585dupA	ENSP00000360883:p.Lys390fs		Somatic				LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Frame_Shift_Ins_p.RK389fs|LIPA_ENST00000371837.1_Intron	p.RK389fs	NM_001549.4	NP_001540.2	WXS	Illumina GAIIx	Phase_I	O14879	IFIT3_HUMAN			2	1347_1348	+			389					Q99634|Q9BSK7	Frame_Shift_Ins	INS	ENST00000371818.4	37	c.1167_1168insA	CCDS7402.1																																																																																				0.391	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		10	570						10	570	---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-609)ggccccfs	p.GP202fs	LGI1_ENST00000542308.1_Frame_Shift_Ins_p.GP154fs|LGI1_ENST00000371413.3_Frame_Shift_Ins_p.GP202fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421																																						ENST00000371418.4																			1	Insertion - Frameshift(1)	p.E205fs*9(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(604-606)gccfs		leucine-rich, glioma inactivated 1																																				SO:0001589	frameshift_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95552601_95552602insC	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.611dupC	10.37:g.95552607_95552607dupC	ENSP00000360472:p.Gly202fs		Somatic				LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs|LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs	p.A202fs	NM_005097.2	NP_005088.1	WXS	Illumina GAIIx	Phase_I	O95970	LGI1_HUMAN			6	865_866	+		Colorectal(252;0.124)	202			LRRCT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Frame_Shift_Ins	INS	ENST00000371418.4	37	c.605_606insC	CCDS7431.1																																																																																				0.421	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		8	421						8	421	---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98079053	98079054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:98079053_98079054insC	ENST00000371174.2	+	3	515_516	c.413_414insC	c.(412-417)ggccccfs	p.GP138fs	DNTT_ENST00000419175.1_Frame_Shift_Ins_p.GP138fs			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	138					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ACCAACCCAGGCCCCCCGAAGA	0.396																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(412-414)gccfs		DNA nucleotidylexotransferase																																				SO:0001589	frameshift_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98079053_98079054insC	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.419dupC	10.37:g.98079059_98079059dupC	ENSP00000360216:p.Gly138fs		Somatic				DNTT_ENST00000371174.2_Frame_Shift_Ins_p.A138fs	p.A138fs	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	WXS	Illumina GAIIx	Phase_I	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	3	583_584	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	138					Q53FH1|Q5W103|Q96E50	Frame_Shift_Ins	INS	ENST00000371174.2	37	c.413_414insC	CCDS7447.1																																																																																				0.396	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		9	533						9	533	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)cttfs	p.L421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.48																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1261-1263)tttfs		tolloid-like 2																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98164994_98164995insG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1262dupC	10.37:g.98165000_98165000dupG	ENSP00000350630:p.Leu421fs		Somatic				TLL2_ENST00000469598.1_5'UTR	p.F421fs	NM_012465.3	NP_036597.1	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1486_1487	-		Colorectal(252;0.0846)	421			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.1261_1262insC	CCDS7449.1																																																																																				0.480	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			9	811						9	811	---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102057330	102057331	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102057330_102057331insC	ENST00000318222.3	-	5	1146_1147	c.764_765insG	c.(763-765)ggcfs	p.G255fs	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Frame_Shift_Ins_p.G255fs	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	255					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGTGGGAGAAGCCCCCCAACTC	0.584																																						ENST00000318222.3																			1	Deletion - Frameshift(1)	p.G255fs*64(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(763-765)gttfs		polycystic kidney disease 2-like 1																																				SO:0001589	frameshift_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057330_102057331insC	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.765dupG	10.37:g.102057336_102057336dupC	ENSP00000325296:p.Gly255fs		Somatic				PKD2L1_ENST00000353274.3_Frame_Shift_Ins_p.V255fs|PKD2L1_ENST00000338519.3_Intron	p.V255fs	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	WXS	Illumina GAIIx	Phase_I	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1146_1147	-		Colorectal(252;0.117)	255					O75972|Q5W039|Q9UP35|Q9UPA2	Frame_Shift_Ins	INS	ENST00000318222.3	37	c.764_765insG	CCDS7492.1																																																																																				0.584	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		9	303						9	303	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs		Somatic				SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		13	603						13	603	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102762412	102762413	+	Frame_Shift_Ins	INS	-	-	G	rs557046161|rs148075274	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102762412_102762413insG	ENST00000370220.1	+	1	3180_3181	c.117_118insG	c.(118-120)gggfs	p.G40fs	LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.G40fs					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGCCCTGTCCCGGGGGGCCAGC	0.678																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(115-120)ccggggfs		leucine zipper, putative tumor suppressor 2																																				SO:0001589	frameshift_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102762412_102762413insG	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.123dupG	10.37:g.102762418_102762418dupG	ENSP00000359240:p.Gly40fs		Somatic				LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.PG39fs	p.PG39fs			WXS	Illumina GAIIx	Phase_I	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	1	3180_3181	+			39			Required for centrosomal localization (By similarity).			Frame_Shift_Ins	INS	ENST00000370220.1	37	c.117_118insG	CCDS7507.1																																																																																				0.678	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		7	110						7	110	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104176573	104176574	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:104176573_104176574insG	ENST00000020673.5	-	2	748_749	c.222_223insC	c.(220-225)ccctcafs	p.S75fs	FBXL15_ENST00000224862.3_5'Flank|PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Ins_p.S75fs	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	75	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.S75fs*127(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACACGGGGTGAGGGGGGGCCAC	0.668																																						ENST00000020673.5																			1	Insertion - Frameshift(1)	p.S75fs*127(1)	ovary(1)	breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(220-225)cccaccfs		pleckstrin and Sec7 domain containing																																				SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176573_104176574insG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.223dupC	10.37:g.104176580_104176580dupG	ENSP00000020673:p.Ser75fs		Somatic				PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Ins_p.T75fs	p.T75fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	WXS	Illumina GAIIx	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	748_749	-			75			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Ins	INS	ENST00000020673.5	37	c.222_223insC	CCDS31272.1																																																																																				0.668	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			8	243						8	243	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105484097	105484098	+	Frame_Shift_Ins	INS	-	-	G	rs149867987		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:105484097_105484098insG	ENST00000369774.4	-	5	604_605	c.328_329insC	c.(328-330)cacfs	p.H110fs	SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.H110fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTGAGATGTGGGGGGGCAGC	0.535																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(328-330)catfs		SH3 and PX domains 2A																																				SO:0001589	frameshift_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105484097_105484098insG	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.329dupC	10.37:g.105484104_105484104dupG	ENSP00000358789:p.His110fs		Somatic				SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.H110fs	p.H110fs			WXS	Illumina GAIIx	Phase_I	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	5	604_605	-		Colorectal(252;0.0815)|Breast(234;0.131)	110			PX.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Ins	INS	ENST00000369774.4	37	c.328_329insC																																																																																					0.535	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		17	159						17	159	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115536900	115536901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:115536900_115536901insC	ENST00000369310.3	+	11	1611_1612	c.1049_1050insC	c.(1048-1053)ggccccfs	p.GP350fs	PLEKHS1_ENST00000354462.3_Frame_Shift_Ins_p.GP100fs|PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000369309.1_Frame_Shift_Ins_p.GP184fs|PLEKHS1_ENST00000369312.4_Frame_Shift_Ins_p.GP268fs	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	364																	CAGTGGGAAGGCCCCCCACGTT	0.559																																						ENST00000354462.3																			0											c.(298-300)gccfs		pleckstrin homology domain containing, family S member 1																																				SO:0001589	frameshift_variant	79949							g.chr10:115536900_115536901insC	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.1055dupC	10.37:g.115536906_115536906dupC	ENSP00000358316:p.Gly350fs		Somatic				PLEKHS1_ENST00000369310.3_Frame_Shift_Ins_p.A350fs|PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000369312.4_Frame_Shift_Ins_p.A268fs|PLEKHS1_ENST00000369309.1_Frame_Shift_Ins_p.A184fs	p.A100fs			WXS	Illumina GAIIx	Phase_I					5	457_458	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Frame_Shift_Ins	INS	ENST00000369310.3	37	c.299_300insC	CCDS53580.1																																																																																				0.559	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		8	301						8	301	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123844355	123844356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:123844355_123844356insC	ENST00000369005.1	+	4	2680_2681	c.2340_2341insC	c.(2341-2343)cccfs	p.P781fs	TACC2_ENST00000515603.1_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.P781fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	781					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGGG	0.639																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2338-2343)caccccfs		transforming, acidic coiled-coil containing protein 2																																				SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844355_123844356insC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2347dupC	10.37:g.123844362_123844362dupC	ENSP00000358001:p.Pro781fs		Somatic				TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.HP780fs	p.HP780fs	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			4	2680_2681	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	780					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Ins	INS	ENST00000369005.1	37	c.2340_2341insC	CCDS7626.1																																																																																				0.639	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	83						8	83	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123892158	123892159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:123892158_123892159insC	ENST00000369005.1	+	6	5948_5949	c.5608_5609insC	c.(5608-5610)gccfs	p.A1870fs	TACC2_ENST00000493951.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.A1870fs|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.A61fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.A1870fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.A1919fs|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.A61fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.A1919fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1870					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGCCCGCTGCCCCCGCAGAC	0.525																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(5608-5610)cccfs		transforming, acidic coiled-coil containing protein 2																																				SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123892158_123892159insC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5613dupC	10.37:g.123892163_123892163dupC	ENSP00000358001:p.Ala1870fs		Somatic				TACC2_ENST00000493951.1_Intron|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.P61fs|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.P61fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.P1870fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.P1870fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.P1919fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.P1919fs	p.P1870fs	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			6	5948_5949	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1870					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Ins	INS	ENST00000369005.1	37	c.5608_5609insC	CCDS7626.1																																																																																				0.525	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	2357						13	2357	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124402882	124402883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:124402882_124402883insC	ENST00000338354.3	+	53	7316_7317	c.7210_7211insC	c.(7210-7212)accfs	p.T2404fs	DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.T2404fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.T1124fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.T2394fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.T2394fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.T1776fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.T1776fs			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2404					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACGC	0.644																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7210-7212)cccfs		deleted in malignant brain tumors 1																																				SO:0001589	frameshift_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402882_124402883insC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7217dupC	10.37:g.124402889_124402889dupC	ENSP00000342210:p.Thr2404fs		Somatic				DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.P2404fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs	p.P2404fs			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			53	7316_7317	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2404					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Frame_Shift_Ins	INS	ENST00000338354.3	37	c.7210_7211insC																																																																																					0.644	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		8	94						8	94	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129905272	129905273	+	Frame_Shift_Ins	INS	-	-	TAGT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:129905272_129905273insTAGT	ENST00000368654.3	-	13	5206_5207	c.4831_4832insACTA	c.(4831-4833)gccfs	p.A1611fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.A1251fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1611	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTACTTTGGCAGTTTTATCG	0.5																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4831-4833)caafs		marker of proliferation Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905272_129905273insTAGT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4831_4832insACTA	10.37:g.129905272_129905273insTAGT	ENSP00000357643:p.Ala1611fs		Somatic				MKI67_ENST00000368653.3_Frame_Shift_Ins_p.Q1251fs	p.Q1611fs	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	5206_5207	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1611			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Ins	INS	ENST00000368654.3	37	c.4831_4832insACTA	CCDS7659.1																																																																																				0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	401						8	401	---	---	---	---
ART5	116969	broad.mit.edu	37	11	3660979	3660980	+	Frame_Shift_Ins	INS	-	-	G	rs74708481		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:3660979_3660980insG	ENST00000397068.3	-	2	1071_1072	c.679_680insC	c.(679-681)catfs	p.H227fs	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000359918.4_Frame_Shift_Ins_p.H227fs|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	227					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.5																																						ENST00000397068.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(679-681)tgafs		ADP-ribosyltransferase 5			,	5,4259		0,5,2127					,	6.2	1.0			76	3,8251		0,3,4124	no	frameshift,frameshift	ART5	NM_053017.3,NM_001079536.1	,	0,8,6251	A1A1,A1R,RR		0.0363,0.1173,0.0639	,	,		8,12510				SO:0001589	frameshift_variant	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660979_3660980insG	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.680dupC	11.37:g.3660986_3660986dupG	ENSP00000380258:p.His227fs		Somatic				ART5_ENST00000359918.4_Frame_Shift_Ins_p.*227fs|ART5_ENST00000397067.3_Intron	p.*227fs	NM_053017.3	NP_443750.2	WXS	Illumina GAIIx	Phase_I	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1071_1072	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	227					C9IYG7|Q6UX84|Q86W02	Frame_Shift_Ins	INS	ENST00000397068.3	37	c.679_680insC	CCDS7743.1																																																																																				0.500	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		7	237						7	237	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(439-441)cccfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs		Somatic				HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.P147fs	NM_001005162.2	NP_001005162.2	WXS	Illumina GAIIx	Phase_I	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147					Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		12	1090						12	1090	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6244882	6244883	+	Frame_Shift_Ins	INS	-	-	ATGA			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6244882_6244883insATGA	ENST00000449352.2	-	3	997_998	c.734_735insTCAT	c.(733-735)cccfs	p.-245fs	FAM160A2_ENST00000265978.4_Frame_Shift_Ins_p.-245fs|FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.-245fs			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCCACAGTGGGGCTCCCAGC	0.584																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(733-735)cacfs		family with sequence similarity 160, member A2																																				SO:0001589	frameshift_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244882_6244883insATGA		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.734_735insTCAT	11.37:g.6244882_6244883insATGA	ENSP00000416918:p.Pro245fs		Somatic				FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.H245fs|FAM160A2_ENST00000449352.2_Frame_Shift_Ins_p.H245fs	p.H245fs	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	WXS	Illumina GAIIx	Phase_I	Q8N612	F16A2_HUMAN			3	1092_1093	-			245					Q9C0A4|Q9H0N3|Q9H624	Frame_Shift_Ins	INS	ENST00000449352.2	37	c.734_735insTCAT	CCDS44530.1																																																																																				0.584	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		57	1191						57	1191	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6263055	6263056	+	Intron	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6263055_6263056insG	ENST00000379936.2	+	5	1382				CNGA4_ENST00000533426.1_Frame_Shift_Ins_p.R207fs	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4						phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGGGGTAGGGGGGAACAG	0.535																																						ENST00000533426.1																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(619-621)gggfs		cyclic nucleotide gated channel alpha 4																																				SO:0001627	intron_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6263055_6263056insG	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1267+45->G	11.37:g.6263061_6263061dupG			Somatic				CNGA4_ENST00000379936.2_Intron	p.G207fs			WXS	Illumina GAIIx	Phase_I	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	770_771	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	565						Frame_Shift_Ins	INS	ENST00000379936.2	37	c.619_620insG	CCDS31408.1																																																																																				0.535	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		8	330						8	330	---	---	---	---
ILK	3611	broad.mit.edu	37	11	6629352	6629353	+	Frame_Shift_Ins	INS	-	-	G	rs141701406		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6629352_6629353insG	ENST00000396751.2	+	2	622_623	c.166_167insG	c.(166-168)cggfs	p.R56fs	ILK_ENST00000299421.4_Frame_Shift_Ins_p.R56fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000528995.1_Frame_Shift_Ins_p.R56fs|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000420936.2_Frame_Shift_Ins_p.R56fs	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	56	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(166-168)gggfs		integrin-linked kinase																																				SO:0001589	frameshift_variant	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6629352_6629353insG	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.172dupG	11.37:g.6629358_6629358dupG	ENSP00000379975:p.Arg56fs		Somatic				ILK_ENST00000420936.2_Frame_Shift_Ins_p.G56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.G56fs|ILK_ENST00000299421.4_Frame_Shift_Ins_p.G56fs|ILK_ENST00000537806.1_Intron	p.G56fs	NM_001014795.1	NP_001014795.1	WXS	Illumina GAIIx	Phase_I	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	2	622_623	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	56			Interaction with LIMS1.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Frame_Shift_Ins	INS	ENST00000396751.2	37	c.166_167insG	CCDS7768.1																																																																																				0.564	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		9	324						9	324	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		12	727						12	727	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661724	6661725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6661724_6661725insG	ENST00000299441.3	-	2	1531_1532	c.1120_1121insC	c.(1120-1122)caafs	p.Q374fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGACACTTGGGGGGAGCCA	0.569																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(1120-1122)agtfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661724_6661725insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1121dupC	11.37:g.6661730_6661730dupG	ENSP00000299441:p.Gln374fs		Somatic					p.S374fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1531_1532	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	374			Cadherin 4.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.1120_1121insC	CCDS7771.1																																																																																				0.569	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	417						8	417	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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			Somatic								WXS	Illumina GAIIx	Phase_I	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		10	355						10	355	---	---	---	---
PLEKHA7	144100	broad.mit.edu	37	11	16838764	16838765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:16838764_16838765insC	ENST00000355661.3	-	11	1458_1459	c.1448_1449insG	c.(1447-1449)ggcfs	p.G483fs	PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.G483fs|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.G483fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	483					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.G483V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTGGCGAGGAGCCCCCCGAGGG	0.639																																						ENST00000355661.3																			1	Substitution - Missense(1)	p.G483V(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1447-1449)gtcfs		pleckstrin homology domain containing, family A member 7																																				SO:0001589	frameshift_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838764_16838765insC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1449dupG	11.37:g.16838770_16838770dupC	ENSP00000347883:p.Gly483fs		Somatic				PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.V483fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.V483fs|PLEKHA7_ENST00000532079.1_Intron	p.V483fs			WXS	Illumina GAIIx	Phase_I	Q6IQ23	PKHA7_HUMAN			11	1458_1459	-			483					B4DK33|B4DWC3|Q86VZ7	Frame_Shift_Ins	INS	ENST00000355661.3	37	c.1448_1449insG	CCDS31434.1																																																																																				0.639	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		10	383						10	383	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs		Somatic				PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000534803.1_5'UTR	p.D101fs	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		63	1578						63	1578	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44089220	44089226	+	Frame_Shift_Del	DEL	TGTCTGG	TGTCTGG	-	rs151059930	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:44089220_44089226delTGTCTGG	ENST00000263776.8	+	2	477_483	c.43_49delTGTCTGG	c.(43-51)tgtctgggcfs	p.CLG15fs	ACCS_ENST00000432284.2_Frame_Shift_Del_p.CLG15fs|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	15					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCCCACCACCTGTCTGGGCCCCACCTG	0.551																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(43-51)gcfs		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)																																				SO:0001589	frameshift_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44089220_44089226delTGTCTGG	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.43_49delTGTCTGG	11.37:g.44089220_44089226delTGTCTGG	ENSP00000263776:p.Cys15fs		Somatic				ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Frame_Shift_Del_p.CLG15fs	p.CLG15fs	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	WXS	Illumina GAIIx	Phase_I	Q96QU6	1A1L1_HUMAN			2	477_483	+			15					B4E219|Q8WUL4|Q96LX5	Frame_Shift_Del	DEL	ENST00000263776.8	37	c.43_49delTGTCTGG	CCDS7907.1																																																																																				0.551	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		27	120						27	120	---	---	---	---
CD82	3732	broad.mit.edu	37	11	44626656	44626657	+	Frame_Shift_Ins	INS	-	-	G	rs34170190	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:44626656_44626657insG	ENST00000227155.4	+	5	433_434	c.185_186insG	c.(184-189)gtggggfs	p.VG62fs	CD82_ENST00000342935.3_Frame_Shift_Ins_p.VG62fs|CD82_ENST00000530931.1_3'UTR|RP11-58K22.5_ENST00000533814.1_RNA|RP11-58K22.4_ENST00000532524.1_RNA	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	62						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						TTCATCGGCGTGGGGGCAGTCA	0.594																																						ENST00000227155.4																			0				large_intestine(1)|ovary(1)	2						c.(184-186)gggfs		CD82 molecule																																				SO:0001589	frameshift_variant	3732					integral to plasma membrane	protein binding	g.chr11:44626656_44626657insG	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.190dupG	11.37:g.44626661_44626661dupG	ENSP00000227155:p.Val62fs		Somatic				RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000342935.3_Frame_Shift_Ins_p.G62fs|CD82_ENST00000530931.1_3'UTR	p.G62fs	NM_002231.3	NP_002222.1	WXS	Illumina GAIIx	Phase_I	P27701	CD82_HUMAN			5	433_434	+			62					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Frame_Shift_Ins	INS	ENST00000227155.4	37	c.185_186insG	CCDS7909.1																																																																																				0.594	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			8	658						8	658	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46912010	46912011	+	Frame_Shift_Ins	INS	-	-	G	rs138301752		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46912010_46912011insG	ENST00000378623.1	-	14	1974_1975	c.1732_1733insC	c.(1732-1734)cgtfs	p.R578fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	578					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGCCTCAATACGGGGGGTGTTG	0.54											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1732-1734)tatfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46912010_46912011insG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1733dupC	11.37:g.46912016_46912016dupG	ENSP00000367888:p.Arg578fs		Somatic	OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.Y578fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	14	1974_1975	-			578					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.1732_1733insC	CCDS31478.1																																																																																				0.540	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		10	456						10	456	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46921056	46921057	+	Splice_Site	INS	-	-	G	rs562071882	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46921056_46921057insG	ENST00000378623.1	-	5	673		c.e5-2			NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4						dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCGCATGTCTGGGGGGATGCG	0.599																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.e5-2		low density lipoprotein receptor-related protein 4																																				SO:0001630	splice_region_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921056_46921057insG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.431-2->C	11.37:g.46921062_46921062dupG			Somatic						NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	5	673	-								B2RN39|Q4AC85|Q5KTZ5	Splice_Site	INS	ENST00000378623.1	37		CCDS31478.1																																																																																				0.599	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	Intron	7	596						7	596	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46921521	46921522	+	Frame_Shift_Ins	INS	-	-	G	rs35014453		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46921521_46921522insG	ENST00000378623.1	-	4	564_565	c.322_323insC	c.(322-324)cggfs	p.R108fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	108					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTCACACTCCCGGGGGGCTGTG	0.609																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(322-324)ggafs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921521_46921522insG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.323dupC	11.37:g.46921527_46921527dupG	ENSP00000367888:p.Arg108fs		Somatic					p.G108fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	4	564_565	-			108					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.322_323insC	CCDS31478.1																																																																																				0.609	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	418						9	418	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:47359101_47359103delTCT	ENST00000545968.1	-	25	2495_2497	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_ENST00000399249.2_In_Frame_Del_p.K814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.K813del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	814	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42	GRCh37	CD021840	MYBPC3	D		c.(2440-2445)agc>a		myosin binding protein C, cardiac																																				SO:0001651	inframe_deletion	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47359101_47359103delTCT	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2441_2443delAGA	11.37:g.47359110_47359112delTCT	ENSP00000442795:p.Lys814del		Somatic				MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del|MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del	p.KS814del			WXS	Illumina GAIIx	Phase_I	Q14896	MYPC3_HUMAN		Lung(87;0.176)	24	2495_2497	-			813			Fibronectin type-III 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	In_Frame_Del	DEL	ENST00000545968.1	37	c.2441_2443delAGA	CCDS53621.1																																																																																				0.601	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			9	1378						9	1378	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		22	1640						22	1640	---	---	---	---
P2RX3	5024	broad.mit.edu	37	11	57116157	57116158	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57116157_57116158insC	ENST00000263314.2	+	6	576_577	c.542_543insC	c.(541-546)ttccccfs	p.FP181fs		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	181					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGCATCCGTTTCCCCCTCTTCA	0.53																																						ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(541-543)tccfs		purinergic receptor P2X, ligand-gated ion channel, 3																																				SO:0001589	frameshift_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57116157_57116158insC	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.547dupC	11.37:g.57116162_57116162dupC	ENSP00000263314:p.Phe181fs		Somatic					p.S181fs	NM_002559.3	NP_002550.2	WXS	Illumina GAIIx	Phase_I	P56373	P2RX3_HUMAN			6	576_577	+			181					Q6DK37|Q9UQB6	Frame_Shift_Ins	INS	ENST00000263314.2	37	c.542_543insC	CCDS7953.1																																																																																				0.530	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		7	379						7	379	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		14	508						14	508	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs		Somatic				TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		25	536						25	536	---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57583445	57583446	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57583445_57583446insG	ENST00000399050.4	+	20	3403_3404	c.2867_2868insG	c.(2866-2871)gaggggfs	p.EG956fs	CTNND1_ENST00000361332.4_Frame_Shift_Ins_p.EG950fs|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000360682.6_Frame_Shift_Ins_p.EG935fs|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000533667.1_Frame_Shift_Ins_p.EG606fs|CTNND1_ENST00000531014.1_Frame_Shift_Ins_p.EG627fs|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000527467.1_Frame_Shift_Ins_p.EG633fs|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000361391.6_Frame_Shift_Ins_p.EG929fs|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000532787.1_Frame_Shift_Ins_p.EG828fs|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000530094.1_Frame_Shift_Ins_p.EG849fs|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000532844.1_Frame_Shift_Ins_p.EG902fs|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000415361.2_Frame_Shift_Ins_p.EG855fs|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000526357.1_Frame_Shift_Ins_p.EG896fs|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000529873.1_Frame_Shift_Ins_p.EG875fs|CTNND1_ENST00000426142.2_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	956					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTGGATGATGAGGGGGGCCAAG	0.5																																						ENST00000399050.4																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(2866-2868)gggfs		catenin (cadherin-associated protein), delta 1																																				SO:0001589	frameshift_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57583445_57583446insG	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2873dupG	11.37:g.57583451_57583451dupG	ENSP00000382004:p.Glu956fs		Somatic				CTNND1_ENST00000361332.4_Frame_Shift_Ins_p.G950fs|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000415361.2_Frame_Shift_Ins_p.G855fs|CTNND1_ENST00000529873.1_Frame_Shift_Ins_p.G875fs|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000361391.6_Frame_Shift_Ins_p.G929fs|CTNND1_ENST00000531014.1_Frame_Shift_Ins_p.G627fs|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000360682.6_Frame_Shift_Ins_p.G935fs|CTNND1_ENST00000526357.1_Frame_Shift_Ins_p.G896fs|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532844.1_Frame_Shift_Ins_p.G902fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000532787.1_Frame_Shift_Ins_p.G828fs|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000533667.1_Frame_Shift_Ins_p.G606fs|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000530094.1_Frame_Shift_Ins_p.G849fs|CTNND1_ENST00000527467.1_Frame_Shift_Ins_p.G633fs|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000532463.1_Intron	p.G956fs	NM_001085458.1	NP_001078927.1	WXS	Illumina GAIIx	Phase_I	O60716	CTND1_HUMAN			20	3403_3404	+		all_epithelial(135;0.155)	956					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Ins	INS	ENST00000399050.4	37	c.2867_2868insG	CCDS44604.1																																																																																				0.500	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		8	289						8	289	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58949549	58949550	+	Frame_Shift_Ins	INS	-	-	C	rs375789414		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:58949549_58949550insC	ENST00000227451.3	+	2	653_654	c.549_550insC	c.(550-552)cccfs	p.P184fs	DTX4_ENST00000532982.1_Frame_Shift_Ins_p.P78fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	184					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCCACCTCGCCCCCCATGTC	0.653																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(547-552)tcccccfs		deltex homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949549_58949550insC	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.555dupC	11.37:g.58949555_58949555dupC	ENSP00000227451:p.Pro184fs		Somatic				DTX4_ENST00000532982.1_Frame_Shift_Ins_p.SP77fs	p.SP183fs	NM_015177.1	NP_055992.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E6	DTX4_HUMAN			2	653_654	+		all_epithelial(135;0.125)	183					Q0VF38	Frame_Shift_Ins	INS	ENST00000227451.3	37	c.549_550insC	CCDS44612.1																																																																																				0.653	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		9	537						9	537	---	---	---	---
MS4A1	931	broad.mit.edu	37	11	60230512	60230513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:60230512_60230513insG	ENST00000534668.1	+	3	486_487	c.197_198insG	c.(196-201)ctggggfs	p.LG66fs	MS4A1_ENST00000389939.2_Frame_Shift_Ins_p.LG66fs|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Frame_Shift_Ins_p.LG66fs|MS4A1_ENST00000345732.4_Frame_Shift_Ins_p.LG66fs|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	66					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CACATTGCCCTGGGGGGTCTTC	0.52																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(196-198)cggfs		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)																																			SO:0001589	frameshift_variant	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230512_60230513insG	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.203dupG	11.37:g.60230518_60230518dupG	ENSP00000433277:p.Leu66fs		Somatic				MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Frame_Shift_Ins_p.R66fs|MS4A1_ENST00000345732.4_Frame_Shift_Ins_p.R66fs|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Frame_Shift_Ins_p.R66fs	p.R66fs	NM_152866.2	NP_690605.1	WXS	Illumina GAIIx	Phase_I	P11836	CD20_HUMAN			3	486_487	+			66					A6NMS4|B4DT24|P08984|Q13963	Frame_Shift_Ins	INS	ENST00000534668.1	37	c.197_198insG	CCDS31570.1																																																																																				0.520	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			9	1339						9	1339	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(685-687)catfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61093159_61093160insC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs		Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.H229fs	NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			6	1082_1083	-			229			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.685_686insG	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		12	161						12	161	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG			Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site		NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	10	262						10	262	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		12	873						12	873	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61539012	61539013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61539012_61539013insC	ENST00000278836.5	+	6	877_878	c.781_782insC	c.(781-783)tccfs	p.S261fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.S252fs|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	261	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S255fs*74(1)									GCACTCTGAATCCCCCCCCAGC	0.634																																						ENST00000278836.5																			1	Insertion - Frameshift(1)	p.S255fs*74(1)	haematopoietic_and_lymphoid_tissue(1)								c.(781-783)cccfs		myelin regulatory factor																																				SO:0001589	frameshift_variant	745							g.chr11:61539012_61539013insC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.789dupC	11.37:g.61539020_61539020dupC	ENSP00000278836:p.Ser261fs		Somatic				TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P252fs	p.P261fs	NM_001127392.1	NP_001120864.1	WXS	Illumina GAIIx	Phase_I					6	877_878	+								O43582|Q9P1Q6	Frame_Shift_Ins	INS	ENST00000278836.5	37	c.781_782insC	CCDS44622.1																																																																																				0.634	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		10	108						10	108	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61727447	61727448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61727447_61727448insC	ENST00000378043.4	+	9	1675_1676	c.1032_1033insC	c.(1033-1035)cccfs	p.P345fs	BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Frame_Shift_Ins_p.SP306fs|BEST1_ENST00000449131.2_Frame_Shift_Ins_p.P285fs|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.P258fs|FTH1_ENST00000529191.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	345					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCGAGCCACAGCCCCCCTACAC	0.624																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(850-855)caccccfs		bestrophin 1																																				SO:0001589	frameshift_variant	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61727447_61727448insC	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1038dupC	11.37:g.61727453_61727453dupC	ENSP00000367282:p.Pro345fs		Somatic				BEST1_ENST00000378043.4_Frame_Shift_Ins_p.HP344fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000526988.1_Frame_Shift_Ins_p.T306fs|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.HP257fs	p.HP284fs	NM_001139443.1	NP_001132915.1	WXS	Illumina GAIIx	Phase_I	O76090	BEST1_HUMAN			8	938_939	+			344					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Frame_Shift_Ins	INS	ENST00000378043.4	37	c.852_853insC	CCDS31580.1																																																																																				0.624	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		15	1137						15	1137	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62293191	62293194	+	Frame_Shift_Del	DEL	GCAT	GCAT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62293191_62293194delGCAT	ENST00000378024.4	-	5	8969_8972	c.8695_8698delATGC	c.(8695-8700)atgcccfs	p.MP2899fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2899					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGAACTTGGGCATTTTCATCTTG	0.525																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8695-8700)ccfs		AHNAK nucleoprotein																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293191_62293194delGCAT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8695_8698delATGC	11.37:g.62293191_62293194delGCAT	ENSP00000367263:p.Met2899fs		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.MP2899fs	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	8969_8972	-		Melanoma(852;0.155)	2899					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.8695_8698delATGC	CCDS31584.1																																																																																				0.525	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		11	971						11	971	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62415052	62415053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62415052_62415053insG	ENST00000330574.2	-	2	2551_2552	c.2499_2500insC	c.(2497-2502)cccgagfs	p.E834fs	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	834					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCGTGTTCCTCGGGGGGCCAGG	0.649																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2497-2502)ccaggafs		integrator complex subunit 5																																				SO:0001589	frameshift_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415052_62415053insG	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2500dupC	11.37:g.62415058_62415058dupG	ENSP00000327889:p.Glu834fs		Somatic					p.G834fs	NM_030628.1	NP_085131.1	WXS	Illumina GAIIx	Phase_I	Q6P9B9	INT5_HUMAN			2	2551_2552	-			834					Q8N6W5|Q9C0G5	Frame_Shift_Ins	INS	ENST00000330574.2	37	c.2499_2500insC	CCDS8027.1																																																																																				0.649	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		8	400						8	400	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000278893.7_Intron|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs		Somatic				BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs	p.D325fs			WXS	Illumina GAIIx	Phase_I	Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		28	511						28	511	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62760967	62760968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62760967_62760968insC	ENST00000336232.2	-	10	1592_1593	c.1457_1458insG	c.(1456-1458)ggcfs	p.G486fs	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000545207.1_Frame_Shift_Ins_p.G395fs|SLC22A8_ENST00000430500.2_Frame_Shift_Ins_p.G486fs|SLC22A8_ENST00000535878.1_Frame_Shift_Ins_p.G363fs|SLC22A8_ENST00000311438.8_Frame_Shift_Ins_p.G486fs	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	486					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGCAGCACTGCCCCCGAGGAG	0.594																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1456-1458)gagfs		solute carrier family 22 (organic anion transporter), member 8																																				SO:0001589	frameshift_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760967_62760968insC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1458dupG	11.37:g.62760972_62760972dupC	ENSP00000337335:p.Gly486fs		Somatic				SLC22A8_ENST00000545207.1_Frame_Shift_Ins_p.E395fs|SLC22A8_ENST00000430500.2_Frame_Shift_Ins_p.E486fs|SLC22A8_ENST00000311438.8_Frame_Shift_Ins_p.E486fs|SLC22A8_ENST00000535878.1_Frame_Shift_Ins_p.E363fs	p.E486fs	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	WXS	Illumina GAIIx	Phase_I	Q8TCC7	S22A8_HUMAN			10	1592_1593	-			486					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Frame_Shift_Ins	INS	ENST00000336232.2	37	c.1457_1458insG	CCDS8042.1																																																																																				0.594	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		8	1041						8	1041	---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64508387	64508388	+	Intron	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:64508387_64508388insC	ENST00000354024.3	-	5	624				RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394432.3_Intron|RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000394430.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.A135fs	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATACTGAGTGCCCCCCCAGCC	0.53											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000394430.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(403-405)actfs		RAS guanyl releasing protein 2 (calcium and DAG-regulated)																																				SO:0001627	intron_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64508387_64508388insC	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.371+31->G	11.37:g.64508394_64508394dupC			Somatic	OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000394432.3_Intron|RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000354024.3_Intron|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.T135fs	p.T135fs			WXS	Illumina GAIIx	Phase_I	Q7LDG7	GRP2_HUMAN			4	2125_2126	-			0					A6NDC7|O00538|Q9UL65	Frame_Shift_Ins	INS	ENST00000354024.3	37	c.403_404insG	CCDS31598.1																																																																																				0.530	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		11	184						11	184	---	---	---	---
SLC22A20	440044	broad.mit.edu	37	11	65004406	65004407	+	RNA	INS	-	-	G	rs575570537	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:65004406_65004407insG	ENST00000525437.1	+	0	1609							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						AGGAAATAACTGGGGGGCAAAT	0.614													?|GGGGGG|GGGGGGG|unsure	3	0.000599042	0.0	0.0	5008	,	,		20295	0.003		0.0	False		,,,				2504	0.0					ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8																																														440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65004406_65004407insG	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65004412_65004412dupG			Somatic								WXS	Illumina GAIIx	Phase_I	A6NK97	S22AK_HUMAN			0	1609	+								B9EJB2|Q6ZN88	RNA	INS	ENST00000525437.1	37																																																																																						0.614	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		8	452						8	452	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65268924	65268925	+	lincRNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:65268924_65268925insC	ENST00000534336.1	+	0	3692_3693					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TACTCTTTTTTCCCCCCACCCC	0.416																																						ENST00000534336.1																			0																																																			378938							g.chr11:65268924_65268925insC	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268930_65268930dupC			Somatic						NR_002819.2		WXS	Illumina GAIIx	Phase_I					0	3692_3693	+									RNA	INS	ENST00000534336.1	37																																																																																						0.416	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		2	4						2	4	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs|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	487					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624																																						ENST00000406246.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1459-1461)cacfs		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.chr11:65422045_65422046insG	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.1460dupC	11.37:g.65422051_65422051dupG	ENSP00000384273:p.His487fs		Somatic				RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	p.H487fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	WXS	Illumina GAIIx	Phase_I	Q04206	TF65_HUMAN			11	1720_1721	-			487					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1459_1460insC	CCDS31609.1																																																																																				0.624	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		11	819						11	819	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65423202	65423202	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:65423202delG	ENST00000406246.3	-	10	1251	c.990delC	c.(988-990)cgcfs	p.R330fs	RELA_ENST00000308639.9_Frame_Shift_Del_p.R327fs|RELA_ENST00000525693.1_Frame_Shift_Del_p.R330fs	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	330					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCACAGCAATGCGTCGAGGTG	0.617																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(988-990)cgfs		v-rel avian reticuloendotheliosis viral oncogene homolog A							93.0	88.0	90.0					11																	65423202		2201	4297	6498	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.chr11:65423202delG	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.990delC	11.37:g.65423202delG	ENSP00000384273:p.Arg330fs		Somatic				RELA_ENST00000308639.9_Frame_Shift_Del_p.R327fs|RELA_ENST00000406246.3_Frame_Shift_Del_p.R330fs	p.R330fs			WXS	Illumina GAIIx	Phase_I	Q04206	TF65_HUMAN			10	1052	-			330					Q6GTV1|Q6SLK1	Frame_Shift_Del	DEL	ENST00000406246.3	37	c.990delC	CCDS31609.1																																																																																				0.617	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		10	225						10	225	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.R131fs|YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000496746.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624																																						ENST00000376901.4																			1	Substitution - Missense(1)	p.R131L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)gcafs		Yip1 interacting factor homolog A (S. cerevisiae)				18,4246		0,18,2114						4.8	1.0			29	10,8242		0,10,4116	no	frameshift	YIF1A	NM_020470.2		0,28,6230	A1A1,A1R,RR		0.1212,0.4221,0.2237				28,12488				SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055104_66055105insG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.392dupC	11.37:g.66055111_66055111dupG	ENSP00000366098:p.Arg131fs		Somatic				YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs|YIF1A_ENST00000471387.2_5'UTR	p.A131fs	NM_020470.2	NP_065203.2	WXS	Illumina GAIIx	Phase_I	O95070	YIF1A_HUMAN			4	575_576	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	ENST00000376901.4	37	c.391_392insC	CCDS8132.1																																																																																				0.624	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		8	166						8	166	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67012878	67012879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:67012878_67012879insG	ENST00000529006.2	+	14	2228_2229	c.1782_1783insG	c.(1783-1785)gggfs	p.G595fs	KDM2A_ENST00000398645.2_Frame_Shift_Ins_p.G595fs|KDM2A_ENST00000530342.1_Frame_Shift_Ins_p.G156fs|KDM2A_ENST00000308783.5_Frame_Shift_Ins_p.G53fs|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	595					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGAAGAAGTTTGGGGGGCCTGG	0.545																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1780-1785)ttggggfs		lysine (K)-specific demethylase 2A																																				SO:0001589	frameshift_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012878_67012879insG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1788dupG	11.37:g.67012884_67012884dupG	ENSP00000432786:p.Gly595fs		Somatic				KDM2A_ENST00000530342.1_Frame_Shift_Ins_p.LG155fs|KDM2A_ENST00000398645.2_Frame_Shift_Ins_p.LG594fs|KDM2A_ENST00000308783.5_Frame_Shift_Ins_p.LG52fs|KDM2A_ENST00000526258.1_3'UTR	p.LG594fs	NM_012308.2	NP_036440.1	WXS	Illumina GAIIx	Phase_I	Q9Y2K7	KDM2A_HUMAN			14	2228_2229	+			594					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Frame_Shift_Ins	INS	ENST00000529006.2	37	c.1782_1783insG	CCDS44657.1																																																																																				0.545	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		7	479						7	479	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2044-2046)cccfs	p.P682fs	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.P682fs	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	682					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2041-2046)atccccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1																																				SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194406_70194407insC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2049dupC	11.37:g.70194412_70194412dupC	ENSP00000253925:p.Pro682fs		Somatic				PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	p.IP681fs	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2258_2259	+			681					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Ins	INS	ENST00000253925.7	37	c.2043_2044insC	CCDS31627.1																																																																																				0.554	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		15	1697						15	1697	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70202321	70202322	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:70202321_70202322insG	ENST00000253925.7	+	19	2758_2759	c.2543_2544insG	c.(2542-2547)ttggggfs	p.LG848fs	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.LG848fs|AP000487.4_ENST00000324630.5_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	848					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTAGCAAATTGGGGGGACAGG	0.411																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2542-2544)tggfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1																																				SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70202321_70202322insG	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2549dupG	11.37:g.70202327_70202327dupG	ENSP00000253925:p.Leu848fs		Somatic				PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.W848fs|AP000487.6_ENST00000528607.1_RNA	p.W848fs	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		19	2758_2759	+			848					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Ins	INS	ENST00000253925.7	37	c.2543_2544insG	CCDS31627.1																																																																																				0.411	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		9	251						9	251	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(25-27)tgcfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71746964_71746965insC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.26dupG	11.37:g.71746970_71746970dupC	ENSP00000377298:p.Ala9fs		Somatic				NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	p.C9fs	NM_006185.2	NP_006176.2	WXS	Illumina GAIIx	Phase_I	Q14980	NUMA1_HUMAN			3	356_357	-			9						Frame_Shift_Ins	INS	ENST00000393695.3	37	c.25_26insG	CCDS31633.1																																																																																				0.505	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			9	483						9	483	---	---	---	---
PLEKHB1	58473	broad.mit.edu	37	11	73371839	73371840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:73371839_73371840insC	ENST00000354190.5	+	7	968_969	c.537_538insC	c.(538-540)cccfs	p.P180fs	PLEKHB1_ENST00000398494.4_Frame_Shift_Ins_p.P161fs|PLEKHB1_ENST00000398492.4_Frame_Shift_Ins_p.P145fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Ins_p.P126fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Ins_p.P126fs|PLEKHB1_ENST00000543085.1_Frame_Shift_Ins_p.P75fs	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	180					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						ACGAGGTGGTGCCCCCCAATGC	0.634											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354190.5																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.(535-540)gtccccfs		pleckstrin homology domain containing, family B (evectins) member 1																																				SO:0001589	frameshift_variant	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73371839_73371840insC	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.543dupC	11.37:g.73371845_73371845dupC	ENSP00000346127:p.Pro180fs		Somatic	OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1144	PLEKHB1_ENST00000535129.1_Frame_Shift_Ins_p.VP125fs|PLEKHB1_ENST00000398492.4_Frame_Shift_Ins_p.VP144fs|PLEKHB1_ENST00000543085.1_Frame_Shift_Ins_p.VP74fs|PLEKHB1_ENST00000398494.4_Frame_Shift_Ins_p.VP160fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Ins_p.VP125fs	p.VP179fs	NM_021200.2	NP_067023.1	WXS	Illumina GAIIx	Phase_I	Q9UF11	PKHB1_HUMAN			7	968_969	+			179					A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Frame_Shift_Ins	INS	ENST00000354190.5	37	c.537_538insC	CCDS44672.1																																																																																				0.634	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			20	581						20	581	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76867057	76867058	+	Frame_Shift_Ins	INS	-	-	C	rs111033187|rs377214759		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:76867057_76867058insC	ENST00000409709.3	+	5	662_663	c.390_391insC	c.(391-393)cccfs	p.P131fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.P131fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.P131fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.P120fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	131	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGGGAGATGCCCCCCCACAT	0.564																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(388-393)atccccfs		myosin VIIA			,,	18,3916		0,18,1949				http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,	5.1	1.0		dbSNP_132	51	12,8042		0,12,4015	no	frameshift,frameshift,frameshift	MYO7A	NM_001127180.1,NM_001127179.2,NM_000260.3	,,	0,30,5964	A1A1,A1R,RR		0.149,0.4575,0.2503	,,	,,		30,11958				SO:0001589	frameshift_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76867057_76867058insC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.397dupC	11.37:g.76867064_76867064dupC	ENSP00000386331:p.Pro131fs		Somatic				MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP130fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP119fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP130fs	p.IP130fs	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			5	662_663	+			130			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	ENST00000409709.3	37	c.390_391insC	CCDS53683.1																																																																																				0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		15	135						15	135	---	---	---	---
KCTD14	65987	broad.mit.edu	37	11	77734222	77734223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:77734222_77734223insG	ENST00000353172.5	-	1	117_118	c.73_74insC	c.(73-75)cggfs	p.R25fs	RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	25					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			CCGCCTGGGCCGGGGGGACTGG	0.688																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	ENST00000353172.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15						c.(73-75)gccfs		potassium channel tetramerization domain containing 14																																				SO:0001589	frameshift_variant	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77734222_77734223insG	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.74dupC	11.37:g.77734228_77734228dupG	ENSP00000316482:p.Arg25fs		Somatic				NDUFC2-KCTD14_ENST00000528251.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	p.A25fs	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	WXS	Illumina GAIIx	Phase_I	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		1	117_118	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		25					B2R9R8	Frame_Shift_Ins	INS	ENST00000353172.5	37	c.73_74insC	CCDS8255.2																																																																																				0.688	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		10	249						10	249	---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885567	77885568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:77885567_77885568insC	ENST00000340067.3	-	2	311_312	c.33_34insG	c.(31-36)gggaagfs	p.K12fs	KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	12	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTATAGAGCTTCCCCCCGACGT	0.574																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(31-36)ggagctfs		potassium channel tetramerization domain containing 21																																				SO:0001589	frameshift_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885567_77885568insC	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.34dupG	11.37:g.77885573_77885573dupC	ENSP00000339340:p.Lys12fs		Somatic				KCTD21-AS1_ENST00000600795.1_RNA	p.A12fs	NM_001029859.1	NP_001025030.1	WXS	Illumina GAIIx	Phase_I	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	311_312	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		12			BTB.		B4DTR0	Frame_Shift_Ins	INS	ENST00000340067.3	37	c.33_34insG	CCDS31645.1																																																																																				0.574	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		13	420						13	420	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:88258517_88258518insG	ENST00000305447.4	-	8	2834_2835	c.2685_2686insC	c.(2683-2688)cccaaafs	p.K896fs	GRM5_ENST00000393297.1_Splice_Site|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000418177.2_Frame_Shift_Ins_p.K896fs|GRM5_ENST00000305432.5_Intron	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATACTCCCTTTGGGGGTGAAAC	0.485																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2683-2688)ccaaggfs		glutamate receptor, metabotropic 5	Acamprosate(DB00659)																																			SO:0001589	frameshift_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88258517_88258518insG	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2686dupC	11.37:g.88258522_88258522dupG	ENSP00000306138:p.Lys896fs		Somatic				GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron	p.R896fs			WXS	Illumina GAIIx	Phase_I	P41594	GRM5_HUMAN			9	3052_3053	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	896					Q6J164	Frame_Shift_Ins	INS	ENST00000305447.4	37	c.2685_2686insC	CCDS44694.1																																																																																				0.485	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		7	1966						7	1966	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102593296	102593297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:102593296_102593297insA	ENST00000236826.3	-	2	308_309	c.210_211insT	c.(208-213)tttgggfs	p.G71fs		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	71					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ACATTCAACCCAAAAAATCGCT	0.436																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(208-213)ttggttfs		matrix metallopeptidase 8 (neutrophil collagenase)																																				SO:0001589	frameshift_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102593296_102593297insA	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.211dupT	11.37:g.102593302_102593302dupA	ENSP00000236826:p.Gly71fs		Somatic					p.LV70fs	NM_002424.2	NP_002415.1	WXS	Illumina GAIIx	Phase_I	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	2	308_309	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	70					Q45F99	Frame_Shift_Ins	INS	ENST00000236826.3	37	c.210_211insT	CCDS8320.1																																																																																				0.436	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		8	1770						8	1770	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs		Somatic				NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		28	1011						28	1011	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116732017	116732018	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:116732017_116732018insG	ENST00000292055.4	-	18	2114_2115	c.2079_2080insC	c.(2077-2082)cccatgfs	p.M694fs	SIK3_ENST00000375288.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.M694fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.M593fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.M752fs|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.M752fs	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	694	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCACTGCTCATGGGGGGAGGAC	0.485																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2251-2256)cctgagfs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116732017_116732018insG	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2080dupC	11.37:g.116732023_116732023dupG	ENSP00000292055:p.Met694fs		Somatic				SIK3_ENST00000446921.2_Frame_Shift_Ins_p.E752fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.E593fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.E694fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.E694fs|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000488337.1_Intron	p.E752fs			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			18	2258_2259	-			694			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.2253_2254insC	CCDS8379.1																																																																																				0.485	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		10	632						10	632	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116747030	116747031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:116747030_116747031insG	ENST00000292055.4	-	8	894_895	c.859_860insC	c.(859-861)ctgfs	p.L287fs	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.L287fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.L186fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.L345fs|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.L345fs	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	287	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCCTCATTCAGGGGGTCCACC	0.465																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1033-1035)gaafs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116747030_116747031insG	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.860dupC	11.37:g.116747035_116747035dupG	ENSP00000292055:p.Leu287fs		Somatic				SIK3_ENST00000446921.2_Frame_Shift_Ins_p.E345fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.E186fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.E287fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.E287fs|SIK3_ENST00000375288.1_5'UTR	p.E345fs			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			8	1038_1039	-			287					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1033_1034insC	CCDS8379.1																																																																																				0.465	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		8	1279						8	1279	---	---	---	---
PCSK7	9159	broad.mit.edu	37	11	117089205	117089206	+	Frame_Shift_Ins	INS	-	-	G	rs142953140		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:117089205_117089206insG	ENST00000320934.3	-	12	2140_2141	c.1510_1511insC	c.(1510-1512)cgtfs	p.R504fs	PCSK7_ENST00000540028.1_Frame_Shift_Ins_p.R145fs	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	504					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTCCAGGGAACGGGGGGACTGC	0.505			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1510-1512)ttcfs		proprotein convertase subtilisin/kexin type 7																																				SO:0001589	frameshift_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117089205_117089206insG	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1511dupC	11.37:g.117089211_117089211dupG	ENSP00000325917:p.Arg504fs		Somatic				PCSK7_ENST00000540028.1_Frame_Shift_Ins_p.F145fs	p.F504fs	NM_004716.2	NP_004707.2	WXS	Illumina GAIIx	Phase_I	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	12	2140_2141	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	504			Homo B/P.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Frame_Shift_Ins	INS	ENST00000320934.3	37	c.1510_1511insC	CCDS8382.1																																																																																				0.505	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		11	513						11	513	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117234200	117234201	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:117234200_117234201insG	ENST00000278935.3	+	8	890_891	c.743_744insG	c.(742-747)ctggggfs	p.LG248fs		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	248					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ATTGGGGCACTGGGGGGTGACT	0.47																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(742-744)cggfs		centrosomal protein 164kDa				0,4264		0,0,2132						4.0	0.2			84	1,8253		0,1,4126	no	frameshift	CEP164	NM_014956.4		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117234200_117234201insG	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.749dupG	11.37:g.117234206_117234206dupG	ENSP00000278935:p.Leu248fs		Somatic					p.R248fs	NM_014956.4	NP_055771.4	WXS	Illumina GAIIx	Phase_I	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	8	890_891	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	248					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Frame_Shift_Ins	INS	ENST00000278935.3	37	c.743_744insG	CCDS31683.1																																																																																				0.470	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		7	243						7	243	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118343528	118343529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:118343528_118343529insC	ENST00000389506.5	+	3	1654_1655	c.1654_1655insC	c.(1654-1656)gccfs	p.A552fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.A552fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.A552fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	552					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCTACAAAGTGCCCCCCAGCAG	0.51																																						ENST00000534358.1																			0											c.(1654-1656)cccfs		lysine (K)-specific methyltransferase 2A																																				SO:0001589	frameshift_variant	4297							g.chr11:118343528_118343529insC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1660dupC	11.37:g.118343534_118343534dupC	ENSP00000374157:p.Ala552fs		Somatic				KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P552fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.P552fs	p.P552fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina GAIIx	Phase_I					3	1677_1678	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.1654_1655insC	CCDS31686.1																																																																																				0.510	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		8	302						8	302	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3379-3381)cccfs		B-cell CLL/lymphoma 9-like				27,4235		0,27,2104						-5.2	0.6			35	32,8218		0,32,4093	no	frameshift	BCL9L	NM_182557.2		0,59,6197	A1A1,A1R,RR		0.3879,0.6335,0.4715				59,12453				SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770651_118770652insG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3381dupC	11.37:g.118770659_118770659dupG	ENSP00000335320:p.Pro1127fs		Somatic				BCL9L_ENST00000526143.1_5'UTR	p.P1127fs	NM_182557.2	NP_872363.1	WXS	Illumina GAIIx	Phase_I	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4344_4345	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1127			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	ENST00000334801.3	37	c.3380_3381insC	CCDS8403.1																																																																																				0.703	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		9	35						9	35	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1884)atggggfs	p.MG627fs	NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.MG627fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1879-1881)aggfs		NLR family member X1																																				SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050610_119050611insG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1887dupG	11.37:g.119050617_119050617dupG	ENSP00000387334:p.Met627fs		Somatic				NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000469103.2_3'UTR	p.R627fs			WXS	Illumina GAIIx	Phase_I	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2467_2468	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	627			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Ins	INS	ENST00000409109.1	37	c.1880_1881insG	CCDS8416.1																																																																																				0.624	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		13	306						13	306	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119063867	119063868	+	Frame_Shift_Ins	INS	-	-	C	rs116554211	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:119063867_119063868insC	ENST00000503566.2	-	4	341_342	c.342_343insG	c.(340-345)gggcagfs	p.Q115fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.Q115fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	115										lung(3)|stomach(1)	4						CTACCTAGCTGCCCCCGAAGGC	0.589																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(340-345)ggagctfs		coiled-coil domain containing 153																																				SO:0001589	frameshift_variant	283152							g.chr11:119063867_119063868insC		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.343dupG	11.37:g.119063872_119063872dupC	ENSP00000423567:p.Gln115fs		Somatic				CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.A115fs	p.A115fs			WXS	Illumina GAIIx	Phase_I	Q494R4	CC153_HUMAN			4	341_342	-			115						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.342_343insG	CCDS44753.1																																																																																				0.589	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		8	983						8	983	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294014	124294015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124294014_124294015insA	ENST00000356130.3	-	1	774_775	c.753_754insT	c.(751-756)tttgggfs	p.G252fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCCCTGACCCAAAAAACAGAG	0.45																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(751-756)ttggtcfs		olfactory receptor, family 8, subfamily B, member 4																																				SO:0001589	frameshift_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294014_124294015insA	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.754dupT	11.37:g.124294020_124294020dupA	ENSP00000348449:p.Gly252fs		Somatic					p.LV251fs	NM_001005196.1	NP_001005196.1	WXS	Illumina GAIIx	Phase_I	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	774_775	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	251					B2RNF8|Q6IFQ7	Frame_Shift_Ins	INS	ENST00000356130.3	37	c.753_754insT	CCDS31710.1																																																																																				0.450	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		8	690						8	690	---	---	---	---
TBRG1	84897	broad.mit.edu	37	11	124500639	124500640	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124500639_124500640insG	ENST00000441174.3	+	7	1040		c.e7-1		TBRG1_ENST00000375005.4_Splice_Site|TBRG1_ENST00000438907.2_Splice_Site	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1						cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TCTCCTGTTTAGGGGGAAACTA	0.441																																						ENST00000441174.3																			0				kidney(1)|prostate(1)	2						c.e7-1		transforming growth factor beta regulator 1																																				SO:0001630	splice_region_variant	84897				cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding	g.chr11:124500639_124500640insG	AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"""nuclear interactor of ARF and MDM2"""	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.837-1->G	11.37:g.124500644_124500644dupG			Somatic				TBRG1_ENST00000375005.4_Splice_Site|TBRG1_ENST00000438907.2_Splice_Site		NM_032811.2	NP_116200.2	WXS	Illumina GAIIx	Phase_I	Q3YBR2	TBRG1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)	7	1040	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Splice_Site	INS	ENST00000441174.3	37		CCDS8448.2																																																																																				0.441	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329057.2	NM_032811	Intron	8	980						8	980	---	---	---	---
PKNOX2	63876	broad.mit.edu	37	11	125267910	125267911	+	Frame_Shift_Ins	INS	-	-	G	rs201952114		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:125267910_125267911insG	ENST00000298282.9	+	7	811_812	c.540_541insG	c.(541-543)gggfs	p.G181fs	PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.G117fs|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	181					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGAATGATCTAGGGGGGCCCTA	0.535																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(538-543)ctggggfs		PBX/knotted 1 homeobox 2																																				SO:0001589	frameshift_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267910_125267911insG	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.546dupG	11.37:g.125267916_125267916dupG	ENSP00000298282:p.Gly181fs		Somatic				PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.LG116fs|PKNOX2_ENST00000530517.1_3'UTR	p.LG180fs	NM_022062.2	NP_071345.2	WXS	Illumina GAIIx	Phase_I	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	811_812	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	180					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Frame_Shift_Ins	INS	ENST00000298282.9	37	c.540_541insG	CCDS41730.1																																																																																				0.535	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			7	441						7	441	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)ccafs	p.P800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2398-2400)caafs		ADAM metallopeptidase with thrombospondin type 1 motif, 8																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275723_130275724insG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2400dupC	11.37:g.130275729_130275729dupG	ENSP00000257359:p.Pro800fs		Somatic					p.Q800fs	NM_007037.4	NP_008968.4	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3105_3106	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	800			Spacer.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.2399_2400insC	CCDS41732.1																																																																																				0.579	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		17	1294						17	1294	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs		Somatic				IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		7	190						7	190	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134062758	134062759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:134062758_134062759insC	ENST00000534548.2	-	16	1934_1935	c.1870_1871insG	c.(1870-1872)gtgfs	p.V624fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	624					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACCGGGACCACCCCCCGCAAC	0.54																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1870-1872)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134062758_134062759insC	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1871dupG	11.37:g.134062764_134062764dupC	ENSP00000433681:p.Val624fs		Somatic					p.G624fs	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	16	1934_1935	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	624					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.1870_1871insG	CCDS31723.1																																																																																				0.540	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		15	415						15	415	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C	rs370128549		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1228-1230)cccfs	p.P410fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	410					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1225-1230)taccccfs		galactosidase, beta 1-like 3																																				SO:0001589	frameshift_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181004_134181005insC		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1233dupC	11.37:g.134181010_134181010dupC	ENSP00000396615:p.Pro410fs		Somatic					p.YP409fs	NM_001080407.2	NP_001073876.2	WXS	Illumina GAIIx	Phase_I	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1227_1228	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	409					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Ins	INS	ENST00000431683.2	37	c.1227_1228insC	CCDS44780.1																																																																																				0.604	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		23	3017						23	3017	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gagfs	p.E499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.E499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1495-1497)gccfs		lysine (K)-specific demethylase 5A																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:442810_442811insC		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1496dupG	12.37:g.442816_442816dupC	ENSP00000382688:p.Glu499fs		Somatic				KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	p.A499fs	NM_001042603.1	NP_001036068.1	WXS	Illumina GAIIx	Phase_I	P29375	KDM5A_HUMAN			12	1857_1858	-			499			JmjC.		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.1495_1496insG	CCDS41736.1																																																																																				0.465	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		11	409						11	409	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6076653	6076654	+	Splice_Site	INS	-	-	G	rs112100565		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6076653_6076654insG	ENST00000261405.5	-	47	8139_8140	c.7885_7886insC	c.(7885-7887)ctg>cCtg	p.L2629fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2629	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTCTTACCAGGGGGCAGGGG	0.574																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.e47+1		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6076653_6076654insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7887+1->C	12.37:g.6076658_6076658dupG			Somatic					p.G2629_splice	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			47	8139_8140	-			2629			VWFC 3.		Q8TCE8|Q99806	Splice_Site	INS	ENST00000261405.5	37	c.7887_splice	CCDS8539.1																																																																																				0.574	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Frame_Shift_Ins	7	392						7	392	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6128170	6128171	+	Frame_Shift_Ins	INS	-	-	G	rs374092740|rs1800383	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6128170_6128171insG	ENST00000261405.5	-	28	4667_4668	c.4413_4414insC	c.(4411-4416)cccgacfs	p.D1472fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1472			D -> H (in dbSNP:rs1800383). {ECO:0000269|PubMed:1988024, ECO:0000269|PubMed:2584182, ECO:0000269|PubMed:3489923}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGTGCCATGTCGGGGGGCAGAG	0.614																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI034194|HM070121	VWF	I|M	rs1800383	c.(4411-4416)ccacatfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128170_6128171insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4414dupC	12.37:g.6128176_6128176dupG	ENSP00000261405:p.Asp1472fs		Somatic					p.H1472fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			28	4667_4668	-			1472		D -> H (in dbSNP:rs1800383).			Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.4413_4414insC	CCDS8539.1																																																																																				0.614	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		12	191						12	191	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs		Somatic					p.R812fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		9	672						9	672	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153588	6153589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6153588_6153589insG	ENST00000261405.5	-	18	2564_2565	c.2310_2311insC	c.(2308-2313)cccatgfs	p.M771fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	771	Amino-terminal.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGCTTGACCATGGGGGGCCGAC	0.545																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CM061227	VWF	M		c.(2308-2313)cctggtfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153588_6153589insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2311dupC	12.37:g.6153594_6153594dupG	ENSP00000261405:p.Met771fs		Somatic					p.G771fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2564_2565	-			771			Amino-terminal.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2310_2311insC	CCDS8539.1																																																																																				0.545	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	369						7	369	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6161822	6161823	+	Frame_Shift_Ins	INS	-	-	G	rs267607309		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6161822_6161823insG	ENST00000261405.5	-	16	2326_2327	c.2072_2073insC	c.(2071-2073)ccafs	p.P691fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	691	TIL 2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGTAGAGCCCTGGGGGGCAGAA	0.609																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2071-2073)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6161822_6161823insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2073dupC	12.37:g.6161828_6161828dupG	ENSP00000261405:p.Pro691fs		Somatic					p.R691fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			16	2326_2327	-			691			TIL 2.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2072_2073insC	CCDS8539.1																																																																																				0.609	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	755						10	755	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6701671	6701672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6701671_6701672insT	ENST00000357008.2	-	19	2998_2999	c.2835_2836insA	c.(2833-2838)aaactgfs	p.L946fs	CHD4_ENST00000544484.1_Frame_Shift_Ins_p.L943fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.L939fs|CHD4_ENST00000309577.6_Frame_Shift_Ins_p.L946fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	946					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATGTCATGCAGTTTTTTTATCT	0.46																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2833-2838)aatgcafs		chromodomain helicase DNA binding protein 4																																				SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701671_6701672insT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2836dupA	12.37:g.6701678_6701678dupT	ENSP00000349508:p.Leu946fs		Somatic				CHD4_ENST00000544484.1_Frame_Shift_Ins_p.NA942fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.NA945fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.NA938fs	p.NA945fs			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			19	2998_2999	-			945					Q8IXZ5	Frame_Shift_Ins	INS	ENST00000357008.2	37	c.2835_2836insA	CCDS8552.1																																																																																				0.460	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	1123						7	1123	---	---	---	---
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-438)agccccfs	p.SP145fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.SP90fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ACCTTGGAGAGCCCCCCTGGTA	0.579																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(433-435)accfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923985_6923986insC	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.440dupC	12.37:g.6923991_6923991dupC	ENSP00000011653:p.Ser145fs		Somatic				CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs	p.T145fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	692_693	+		Myeloproliferative disorder(1001;0.0122)	145			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.434_435insC	CCDS8562.1																																																																																				0.579	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		23	1961						23	1961	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs		Somatic				CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		28	846						28	846	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045534	7045535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:7045534_7045535insC	ENST00000356654.4	+	5	1341_1342	c.1104_1105insC	c.(1105-1107)cccfs	p.P369fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P369fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	369					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGCTCCAGCGCCCCCCATGAG	0.589																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1102-1107)gcccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045534_7045535insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1110dupC	12.37:g.7045540_7045540dupC	ENSP00000349076:p.Pro369fs		Somatic				ATN1_ENST00000396684.2_Frame_Shift_Ins_p.AP368fs	p.AP368fs	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			5	1341_1342	+			368					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1104_1105insC	CCDS31734.1																																																																																				0.589	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		8	692						8	692	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1270-1272)cccfs	p.P424fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P424fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	424					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1267-1272)caccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045699_7045700insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1275dupC	12.37:g.7045705_7045705dupC	ENSP00000349076:p.Pro424fs		Somatic				ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	p.HP423fs	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			5	1506_1507	+			423					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1269_1270insC	CCDS31734.1																																																																																				0.614	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		16	393						16	393	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8196301	8196301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:8196301delC	ENST00000162391.3	+	4	1558	c.413delC	c.(412-414)tccfs	p.S138fs	FOXJ2_ENST00000428177.2_Frame_Shift_Del_p.S138fs	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	138					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCCAGGGTTCCTATTGGACA	0.443																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(412-414)tcfs		forkhead box J2							183.0	179.0	180.0					12																	8196301		2203	4300	6503	SO:0001589	frameshift_variant	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8196301delC	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.413delC	12.37:g.8196301delC	ENSP00000162391:p.Ser138fs		Somatic				FOXJ2_ENST00000428177.2_Frame_Shift_Del_p.S138fs	p.S138fs	NM_018416.2	NP_060886.1	WXS	Illumina GAIIx	Phase_I	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	4	1558	+			138					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Frame_Shift_Del	DEL	ENST00000162391.3	37	c.413delC	CCDS8587.1																																																																																				0.443	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		17	1143						17	1143	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)ccafs	p.P51fs	PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(151-153)cccfs		proline-rich protein BstNI subfamily 1																																				SO:0001589	frameshift_variant	5542					extracellular region		g.chr12:11506884_11506885insG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.153dupC	12.37:g.11506890_11506890dupG	ENSP00000420826:p.Pro51fs		Somatic				PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	WXS	Illumina GAIIx	Phase_I	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_190	-			234					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	c.152_153insC	CCDS8642.1																																																																																				0.579	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		11	1190						11	1190	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12278317	12278318	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:12278317_12278318insC	ENST00000261349.4	-	21	4437_4438	c.4361_4362insG	c.(4360-4362)ggafs	p.G1454fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.G1409fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1454					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCCACTGCTTCCCCCCATGAT	0.426																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4360-4362)gagfs		low density lipoprotein receptor-related protein 6																																				SO:0001589	frameshift_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12278317_12278318insC	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4362dupG	12.37:g.12278323_12278323dupC	ENSP00000261349:p.Gly1454fs		Somatic				LRP6_ENST00000543091.1_Frame_Shift_Ins_p.E1409fs|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	p.E1454fs	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			21	4437_4438	-		Prostate(47;0.0865)	1454					Q17RZ2	Frame_Shift_Ins	INS	ENST00000261349.4	37	c.4361_4362insG	CCDS8647.1																																																																																				0.426	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			7	322						7	322	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			23	1124						23	1124	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14947511	14947512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:14947511_14947512insG	ENST00000261167.2	-	7	913_914	c.680_681insC	c.(679-681)cctfs	p.P227fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	227					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTCGCCTACGAGGGGGAAGATC	0.48																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(679-681)ccgfs		WW domain binding protein 11																																				SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947511_14947512insG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.681dupC	12.37:g.14947516_14947516dupG	ENSP00000261167:p.Pro227fs		Somatic				WBP11_ENST00000537574.1_Frame_Shift_Ins_p.P227fs	p.P227fs	NM_016312.2	NP_057396.1	WXS	Illumina GAIIx	Phase_I	Q9Y2W2	WBP11_HUMAN			7	913_914	-			227					Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	c.680_681insC	CCDS8666.1																																																																																				0.480	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		9	1225						9	1225	---	---	---	---
FGD4	121512	broad.mit.edu	37	12	32791721	32791722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:32791721_32791722insC	ENST00000427716.2	+	16	2459_2460	c.2035_2036insC	c.(2035-2037)gccfs	p.A679fs	FGD4_ENST00000525053.1_Frame_Shift_Ins_p.A791fs|FGD4_ENST00000266482.3_Frame_Shift_Ins_p.A431fs|FGD4_ENST00000534526.2_Frame_Shift_Ins_p.A816fs|FGD4_ENST00000531134.1_Frame_Shift_Ins_p.A764fs|FGD4_ENST00000546442.1_Frame_Shift_Ins_p.A586fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGTATGGTGCCCCCCAGGTA	0.505																																						ENST00000427716.2																			1	Substitution - Missense(1)	p.A679V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2035-2037)cccfs		FYVE, RhoGEF and PH domain containing 4																																				SO:0001589	frameshift_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32791721_32791722insC	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2041dupC	12.37:g.32791727_32791727dupC	ENSP00000394487:p.Ala679fs		Somatic				FGD4_ENST00000266482.3_Frame_Shift_Ins_p.P431fs|FGD4_ENST00000546442.1_Frame_Shift_Ins_p.P586fs|FGD4_ENST00000534526.2_Frame_Shift_Ins_p.P816fs|FGD4_ENST00000531134.1_Frame_Shift_Ins_p.P764fs|FGD4_ENST00000525053.1_Frame_Shift_Ins_p.P791fs	p.P679fs	NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			16	2459_2460	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		679			PH 2.		Q6ULS2|Q8TCP6	Frame_Shift_Ins	INS	ENST00000427716.2	37	c.2035_2036insC	CCDS8727.1																																																																																				0.505	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		10	283						10	283	---	---	---	---
PRKAG1	5571	broad.mit.edu	37	12	49399308	49399309	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49399308_49399309insA	ENST00000548065.1	-	4	642_643	c.186_187insT	c.(184-189)tttgctfs	p.A63fs	PRKAG1_ENST00000552212.1_Frame_Shift_Ins_p.A31fs|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000316299.5_Frame_Shift_Ins_p.A63fs|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Frame_Shift_Ins_p.A12fs			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	63	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GTCACCAAAGCAAAAAAAGCTT	0.411																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(184-189)ttctttfs		protein kinase, AMP-activated, gamma 1 non-catalytic subunit																																				SO:0001589	frameshift_variant	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49399308_49399309insA	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.187dupT	12.37:g.49399315_49399315dupA	ENSP00000447433:p.Ala63fs		Somatic				PRKAG1_ENST00000552212.1_Frame_Shift_Ins_p.F31fs|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_Frame_Shift_Ins_p.F12fs|PRKAG1_ENST00000316299.5_Frame_Shift_Ins_p.F63fs|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	p.F63fs			WXS	Illumina GAIIx	Phase_I	P54619	AAKG1_HUMAN			4	642_643	-			63			CBS 1.		B4DDT7|Q8N7V9	Frame_Shift_Ins	INS	ENST00000548065.1	37	c.186_187insT	CCDS8777.1																																																																																				0.411	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		7	360						7	360	---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49580267	49580268	+	Intron	INS	-	-	G	rs146262934		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49580267_49580268insG	ENST00000295766.5	-	3	706				TUBA1A_ENST00000546918.1_Frame_Shift_Ins_p.L118fs|TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000550767.1_Intron	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	ggggaggagcaggggggaggag	0.624																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000546918.1																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(352-354)gctfs		tubulin, alpha 1a																																				SO:0001627	intron_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580267_49580268insG	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.227-26->C	12.37:g.49580273_49580273dupG			Somatic				TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000295766.5_Intron	p.A118fs			WXS	Illumina GAIIx	Phase_I	Q71U36	TBA1A_HUMAN			2	438_439	-			0					A8K0B8|G3V1U9|P04687|P05209	Frame_Shift_Ins	INS	ENST00000295766.5	37	c.352_353insC	CCDS58227.1																																																																																				0.624	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		11	712						11	712	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49725380	49725381	+	Frame_Shift_Ins	INS	-	-	C	rs78835037		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49725380_49725381insC	ENST00000257909.3	+	15	2393_2394	c.2317_2318insC	c.(2317-2319)gccfs	p.A773fs	TROAP_ENST00000551245.1_Frame_Shift_Ins_p.A863fs|TROAP_ENST00000547923.1_Frame_Shift_Ins_p.A452fs	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	773					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGTTCTGCTGCCCCCCAGGGC	0.55											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(2587-2589)cccfs		trophinin associated protein																																				SO:0001589	frameshift_variant	10024				cell adhesion	cytoplasm		g.chr12:49725380_49725381insC	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2323dupC	12.37:g.49725386_49725386dupC	ENSP00000257909:p.Ala773fs		Somatic	OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	TROAP_ENST00000547923.1_Frame_Shift_Ins_p.P452fs|TROAP_ENST00000257909.3_Frame_Shift_Ins_p.P773fs	p.P863fs			WXS	Illumina GAIIx	Phase_I	Q12815	TROAP_HUMAN			14	2698_2699	+			0					F8VSF9|Q6PJU7|Q8N5B2	Frame_Shift_Ins	INS	ENST00000257909.3	37	c.2587_2588insC	CCDS8784.1																																																																																				0.550	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		22	772						22	772	---	---	---	---
DNAJC22	79962	broad.mit.edu	37	12	49742768	49742769	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49742768_49742769insG	ENST00000549441.2	+	3	1317_1318	c.113_114insG	c.(112-117)ctggggfs	p.LG38fs	DNAJC22_ENST00000395069.3_Frame_Shift_Ins_p.LG38fs			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	38						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						ATGCTGACCCTGGGGGGAGGTG	0.668																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(112-114)cggfs		DnaJ (Hsp40) homolog, subfamily C, member 22																																				SO:0001589	frameshift_variant	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742768_49742769insG	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.119dupG	12.37:g.49742774_49742774dupG	ENSP00000446830:p.Leu38fs		Somatic				DNAJC22_ENST00000395069.3_Frame_Shift_Ins_p.R38fs	p.R38fs			WXS	Illumina GAIIx	Phase_I	Q8N4W6	DJC22_HUMAN			3	1317_1318	+			38					B3KP54	Frame_Shift_Ins	INS	ENST00000549441.2	37	c.113_114insG	CCDS8785.1																																																																																				0.668	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		10	272						10	272	---	---	---	---
PRPF40B	25766	broad.mit.edu	37	12	50037050	50037051	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:50037050_50037051insC	ENST00000380281.1	+	22	2251_2252	c.2187_2188insC	c.(2188-2190)cccfs	p.P730fs	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Frame_Shift_Ins_p.P717fs|PRPF40B_ENST00000548825.2_Frame_Shift_Ins_p.P751fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	730					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CATCTCTCCGGCCCCCCAAGCG	0.614																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2146-2151)cgccccfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037050_50037051insC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2193dupC	12.37:g.50037056_50037056dupC	ENSP00000369634:p.Pro730fs		Somatic				PRPF40B_ENST00000548825.2_Frame_Shift_Ins_p.RP750fs|PRPF40B_ENST00000380281.1_Frame_Shift_Ins_p.RP729fs|FMNL3_ENST00000335154.5_3'UTR	p.RP716fs			WXS	Illumina GAIIx	Phase_I	Q6NWY9	PR40B_HUMAN			22	2699_2700	+			729					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Ins	INS	ENST00000380281.1	37	c.2148_2149insC																																																																																					0.614	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		11	246						11	246	---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52843340	52843341	+	Frame_Shift_Del	DEL	CA	CA	-	rs145327282		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:52843340_52843341delCA	ENST00000252252.3	-	5	1036_1037	c.989_990delTG	c.(988-990)ctgfs	p.L330fs		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	330	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGATGCTGTCCAGGTCCAGGTT	0.545																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(988-990)cfs		keratin 6B																																				SO:0001589	frameshift_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843340_52843341delCA	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.989_990delTG	12.37:g.52843340_52843341delCA	ENSP00000252252:p.Leu330fs		Somatic					p.L330fs	NM_005555.3	NP_005546.2	WXS	Illumina GAIIx	Phase_I	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	1036_1037	-			330			Linker 12.|Rod.		P48669	Frame_Shift_Del	DEL	ENST00000252252.3	37	c.989_990delTG	CCDS8828.1																																																																																				0.545	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		83	1179						83	1179	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)gccfs	p.A496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1486-1488)cacfs		keratin 79																																				SO:0001589	frameshift_variant	338785					keratin filament	structural molecule activity	g.chr12:53215777_53215778insC	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1487dupG	12.37:g.53215784_53215784dupC	ENSP00000328358:p.Ala496fs		Somatic					p.H496fs	NM_175834.2	NP_787028.1	WXS	Illumina GAIIx	Phase_I	Q5XKE5	K2C79_HUMAN			9	1520_1521	-			496			Tail.		Q6P465|Q7Z793	Frame_Shift_Ins	INS	ENST00000330553.5	37	c.1486_1487insG	CCDS8839.1																																																																																				0.619	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		10	202						10	202	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53227665	53227666	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53227665_53227666insG	ENST00000330553.5	-	1	413_414	c.379_380insC	c.(379-381)ctcfs	p.L127fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	127	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCACATGGAGGGGGGTCAGC	0.604																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(379-381)ccafs		keratin 79																																				SO:0001589	frameshift_variant	338785					keratin filament	structural molecule activity	g.chr12:53227665_53227666insG	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.380dupC	12.37:g.53227671_53227671dupG	ENSP00000328358:p.Leu127fs		Somatic					p.P127fs	NM_175834.2	NP_787028.1	WXS	Illumina GAIIx	Phase_I	Q5XKE5	K2C79_HUMAN			1	413_414	-			127			Head.		Q6P465|Q7Z793	Frame_Shift_Ins	INS	ENST00000330553.5	37	c.379_380insC	CCDS8839.1																																																																																				0.604	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		7	779						7	779	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53242469	53242470	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53242469_53242470insC	ENST00000304620.4	-	1	308_309	c.245_246insG	c.(244-246)ggcfs	p.G82fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	82	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCTTGGATGCCCCCCGGAGG	0.629																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(244-246)gatfs		keratin 78																																				SO:0001589	frameshift_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242469_53242470insC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.246dupG	12.37:g.53242475_53242475dupC	ENSP00000306261:p.Gly82fs		Somatic					p.D82fs	NM_173352.2	NP_775487.2	WXS	Illumina GAIIx	Phase_I	Q8N1N4	K2C78_HUMAN			1	308_309	-			82			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Ins	INS	ENST00000304620.4	37	c.245_246insG	CCDS8840.1																																																																																				0.629	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		11	144						11	144	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G	rs374370282|rs369599312		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.R265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579																																						ENST00000257863.4																			1	Substitution - Missense(1)	p.R265W(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(793-795)gggfs		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819644_53819645insG	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.800dupG	12.37:g.53819651_53819651dupG	ENSP00000257863:p.Arg265fs		Somatic				AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs	p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	WXS	Illumina GAIIx	Phase_I	Q16671	AMHR2_HUMAN			6	873_874	+			265			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Ins	INS	ENST00000257863.4	37	c.793_794insG	CCDS8858.1																																																																																				0.579	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		9	169						9	169	---	---	---	---
DCD	117159	broad.mit.edu	37	12	55039009	55039010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:55039009_55039010insC	ENST00000293371.6	-	4	425_426	c.236_237insG	c.(235-237)ggafs	p.G79fs	DCD_ENST00000456047.2_Frame_Shift_Ins_p.G79fs	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	79					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GTTTTCCGAGTCCCCCCACAGC	0.48																																						ENST00000456047.2																			0				large_intestine(2)|lung(2)|ovary(1)|skin(1)	6						c.(235-237)gctfs		dermcidin																																				SO:0001589	frameshift_variant	117159				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr12:55039009_55039010insC	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.237dupG	12.37:g.55039015_55039015dupC	ENSP00000293371:p.Gly79fs		Somatic				DCD_ENST00000293371.6_Frame_Shift_Ins_p.A79fs	p.A79fs			WXS	Illumina GAIIx	Phase_I	P81605	DCD_HUMAN			4	425_426	-		Myeloproliferative disorder(1001;0.0255)	79					A5JHP2|A5JHP3|P58461|Q53YJ2	Frame_Shift_Ins	INS	ENST00000293371.6	37	c.236_237insG	CCDS8884.1																																																																																				0.480	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283		9	570						9	570	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56094098	56094099	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56094098_56094099insC	ENST00000555728.1	-	5	777_778	c.749_750insG	c.(748-750)ggafs	p.G250fs	ITGA7_ENST00000553804.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000257880.7_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000452168.2_Frame_Shift_Ins_p.G153fs|ITGA7_ENST00000394230.2_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000394229.2_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	250					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTCCTTCTCTCCCCCCGCCTC	0.649																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(748-750)ggafs		integrin, alpha 7																																				SO:0001589	frameshift_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094098_56094099insC		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.750dupG	12.37:g.56094104_56094104dupC	ENSP00000452387:p.Gly250fs		Somatic				ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000452168.2_Frame_Shift_Ins_p.G153fs|ITGA7_ENST00000394230.2_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000553804.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000555728.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000394229.2_Intron	p.G250fs			WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			5	968_969	-			250					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Frame_Shift_Ins	INS	ENST00000555728.1	37	c.749_750insG																																																																																					0.649	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		13	348						13	348	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			15	302						15	302	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs		Somatic				RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs	p.G579fs			WXS	Illumina GAIIx	Phase_I	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		26	1287						26	1287	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-2001)ttggggfs	p.LG666fs	ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.LG676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.LG676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.55																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1996-1998)tggfs		extended synaptotagmin-like protein 1																																				SO:0001589	frameshift_variant	23344					integral to membrane		g.chr12:56531341_56531342insG	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2003dupG	12.37:g.56531347_56531347dupG	ENSP00000377612:p.Leu666fs		Somatic				ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs	p.W666fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			18	2261_2262	+			666			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Frame_Shift_Ins	INS	ENST00000394048.5	37	c.1997_1998insG	CCDS8904.1																																																																																				0.550	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		11	588						11	588	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56532024	56532025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56532024_56532025insC	ENST00000394048.5	+	21	2569_2570	c.2305_2306insC	c.(2305-2307)accfs	p.T769fs	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.T779fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.T779fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	769					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGCGTCTCACCCCCCGTCCC	0.599																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2305-2307)cccfs		extended synaptotagmin-like protein 1																																				SO:0001589	frameshift_variant	23344					integral to membrane		g.chr12:56532024_56532025insC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2311dupC	12.37:g.56532030_56532030dupC	ENSP00000377612:p.Thr769fs		Somatic				ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.P779fs|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.P779fs	p.P769fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			21	2569_2570	+			769					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Frame_Shift_Ins	INS	ENST00000394048.5	37	c.2305_2306insC	CCDS8904.1																																																																																				0.599	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		14	482						14	482	---	---	---	---
GPR182	11318	broad.mit.edu	37	12	57389468	57389469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57389468_57389469insC	ENST00000300098.1	+	2	694_695	c.475_476insC	c.(475-477)tccfs	p.S159fs	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	159					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CACCAGCGCCTCCCCCTCCTGG	0.599																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(475-477)cccfs		G protein-coupled receptor 182																																				SO:0001589	frameshift_variant	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389468_57389469insC	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.480dupC	12.37:g.57389473_57389473dupC	ENSP00000300098:p.Ser159fs		Somatic					p.P159fs	NM_007264.3	NP_009195.1	WXS	Illumina GAIIx	Phase_I	O15218	GP182_HUMAN			2	694_695	+			159						Frame_Shift_Ins	INS	ENST00000300098.1	37	c.475_476insC	CCDS8927.1																																																																																				0.599	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		7	761						7	761	---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cctfs	p.P689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(2065-2067)cgafs		zinc finger and BTB domain containing 39																																				SO:0001589	frameshift_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396635_57396636insG	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.2067dupC	12.37:g.57396641_57396641dupG	ENSP00000300101:p.Pro689fs		Somatic					p.R689fs	NM_014830.2	NP_055645.1	WXS	Illumina GAIIx	Phase_I	O15060	ZBT39_HUMAN			2	2151_2152	-			689		P -> A (in dbSNP:rs3741576).			A7MD38|Q9UD98	Frame_Shift_Ins	INS	ENST00000300101.2	37	c.2066_2067insC	CCDS31839.1																																																																																				0.569	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		12	1796						12	1796	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs		Somatic					p.*G1487fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		15	467						15	467	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		110	1377						110	1377	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57921305	57921306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57921305_57921306insC	ENST00000355673.3	+	8	2454_2455	c.2098_2099insC	c.(2098-2100)gccfs	p.A700fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.A700fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	700	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGTCCTGAGTGCCCCCCAACCT	0.53																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2098-2100)cccfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921305_57921306insC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2104dupC	12.37:g.57921311_57921311dupC	ENSP00000347896:p.Ala700fs		Somatic				MBD6_ENST00000431731.2_Frame_Shift_Ins_p.P700fs	p.P700fs	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			8	2454_2455	+			700			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Ins	INS	ENST00000355673.3	37	c.2098_2099insC	CCDS8944.1																																																																																				0.530	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			11	102						11	102	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2461-2463)gggfs	p.G821fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.G732fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2458-2463)agggggfs		kinesin family member 5A																																				SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972047_57972048insG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2466dupG	12.37:g.57972053_57972053dupG	ENSP00000408979:p.Gly821fs		Somatic				KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	p.RG820fs	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2734_2735	+			820					A6H8M5|Q4LE26	Frame_Shift_Ins	INS	ENST00000455537.2	37	c.2460_2461insG	CCDS8945.1																																																																																				0.505	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		21	1197						21	1197	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57995030	57995031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57995030_57995031insC	ENST00000354947.5	+	9	1100_1101	c.1084_1085insC	c.(1084-1086)gccfs	p.A362fs	PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.A314fs|PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.A362fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.A344fs			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	362	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTCCCAGGAGCCCCCCAGAAG	0.475																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1084-1086)cccfs		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma																																				SO:0001589	frameshift_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57995030_57995031insC	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1090dupC	12.37:g.57995036_57995036dupC	ENSP00000347032:p.Ala362fs		Somatic				PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.P362fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.P344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.P314fs	p.P362fs			WXS	Illumina GAIIx	Phase_I	Q8TBX8	PI42C_HUMAN			9	1100_1101	+	Melanoma(17;0.122)		362			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Frame_Shift_Ins	INS	ENST00000354947.5	37	c.1084_1085insC	CCDS8946.1																																																																																				0.475	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		8	422						8	422	---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58143030	58143031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:58143030_58143031insG	ENST00000257904.6	-	7	1118_1119	c.753_754insC	c.(751-756)cccagafs	p.R252fs	CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000312990.6_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGGGCCCTCTGGGGGGAAAGG	0.624			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(751-756)ccgaggfs		cyclin-dependent kinase 4																																				SO:0001589	frameshift_variant	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58143030_58143031insG	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.754dupC	12.37:g.58143036_58143036dupG	ENSP00000257904:p.Arg252fs		Somatic				TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000312990.6_3'UTR	p.R252fs	NM_000075.3	NP_000066.1	WXS	Illumina GAIIx	Phase_I	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1118_1119	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		252			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Frame_Shift_Ins	INS	ENST00000257904.6	37	c.753_754insC	CCDS8953.1																																																																																				0.624	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		8	630						8	630	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691|rs374056986	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:58174036_58174037insG	ENST00000300209.8	+	3	414		c.e3-1		METTL21B_ENST00000548256.1_Splice_Site|METTL21B_ENST00000333012.5_Splice_Site|METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000540550.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000350762.5_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000548851.1_5'Flank|TSFM_ENST00000543727.1_5'Flank|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000454289.3_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584																																						ENST00000333012.5																			0				endometrium(1)|lung(1)	2						c.e4-1		methyltransferase like 21B																																				SO:0001630	splice_region_variant	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174036_58174037insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.290-1->G	12.37:g.58174043_58174043dupG			Somatic				RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000551420.1_Splice_Site|METTL21B_ENST00000300209.8_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron		NM_206914.1	NP_996797.1	WXS	Illumina GAIIx	Phase_I	Q96AZ1	MT21B_HUMAN			4	475	+								Q9H749|Q9Y3W2	Splice_Site	INS	ENST00000300209.8	37		CCDS8957.1																																																																																				0.584	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433	Intron	14	371						14	371	---	---	---	---
AVIL	10677	broad.mit.edu	37	12	58204895	58204896	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:58204895_58204896insC	ENST00000257861.3	-	4	783_784	c.353_354insG	c.(352-354)ggtfs	p.G118fs	AVIL_ENST00000537081.1_Frame_Shift_Ins_p.G111fs	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	118	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAGAGGCGACACCCCCCTGCTT	0.515																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(331-333)ggtfs		advillin																																				SO:0001589	frameshift_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58204895_58204896insC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.354dupG	12.37:g.58204901_58204901dupC	ENSP00000257861:p.Gly118fs		Somatic				AVIL_ENST00000257861.3_Frame_Shift_Ins_p.G118fs	p.G111fs			WXS	Illumina GAIIx	Phase_I	O75366	AVIL_HUMAN			4	331_332	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		118			Core (By similarity).|Polyphosphoinositide binding (By similarity).		B2RAU7|Q2NKM9	Frame_Shift_Ins	INS	ENST00000257861.3	37	c.332_333insG	CCDS8959.1																																																																																				0.515	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		11	380						11	380	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59282620	59282621	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:59282620_59282621insC	ENST00000320743.3	-	6	1069_1070	c.783_784insG	c.(781-786)gggctgfs	p.L262fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.L202fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	262					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATGTTGCTCAGCCCCCAAAAAG	0.411			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(781-786)ggtgagfs		leucine-rich repeats and immunoglobulin-like domains 3																																				SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59282620_59282621insC	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.784dupG	12.37:g.59282625_59282625dupC	ENSP00000326759:p.Leu262fs		Somatic				LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.E202fs	p.E262fs	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		6	1069_1070	-			262					Q6UXL7|Q8NC72	Frame_Shift_Ins	INS	ENST00000320743.3	37	c.783_784insG	CCDS8960.1																																																																																				0.411	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		7	361						7	361	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs	p.NP318fs	NM_002392.4	NP_002383.2	WXS	Illumina GAIIx	Phase_I	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		16	416						16	416	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049143	70049144	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:70049143_70049144insC	ENST00000330891.5	-	10	1776_1777	c.1550_1551insG	c.(1549-1551)ggcfs	p.G517fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.G411fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.G304fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	517					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATGGTGGTAGCCCCCTGATGT	0.559																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1549-1551)gtafs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049143_70049144insC	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1551dupG	12.37:g.70049148_70049148dupC	ENSP00000332413:p.Gly517fs		Somatic				BEST3_ENST00000488961.1_Frame_Shift_Ins_p.V304fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.V411fs	p.V517fs	NM_032735.2	NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1776_1777	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		517					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1550_1551insG	CCDS8992.2																																																																																				0.559	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		7	2362						7	2362	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94976257	94976258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:94976257_94976258insC	ENST00000261226.4	-	2	266_267	c.135_136insG	c.(133-138)gggtcafs	p.S46fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.S15fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	46						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTGGTGTCTGACCCCCCTCGGC	0.46																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(133-138)ggcagafs		transmembrane and coiled-coil domain family 3																																				SO:0001589	frameshift_variant	57458					integral to membrane		g.chr12:94976257_94976258insC	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.136dupG	12.37:g.94976263_94976263dupC	ENSP00000261226:p.Ser46fs		Somatic				TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.R15fs	p.R46fs	NM_020698.2	NP_065749.2	WXS	Illumina GAIIx	Phase_I	Q9ULS5	TMCC3_HUMAN			2	266_267	-			46					Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	37	c.135_136insG	CCDS31877.1																																																																																				0.460	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		8	723						8	723	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695959	103695960	+	Frame_Shift_Ins	INS	-	-	G	rs182234129|rs185386009		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:103695959_103695960insG	ENST00000378113.2	-	6	1234_1235	c.1009_1010insC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.R337fs|C12orf42_ENST00000548048.1_Frame_Shift_Ins_p.R270fs|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCGGGTTGGGCGGGGGGGTGCT	0.584																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(808-810)cccfs		chromosome 12 open reading frame 42																																				SO:0001589	frameshift_variant	374470							g.chr12:103695959_103695960insG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1010dupC	12.37:g.103695966_103695966dupG	ENSP00000367353:p.Arg337fs		Somatic				C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000378113.2_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000315192.8_Intron	p.P270fs			WXS	Illumina GAIIx	Phase_I	Q96LP6	CL042_HUMAN			9	1304_1305	-			337					Q49A64|Q4G0S2	Frame_Shift_Ins	INS	ENST00000378113.2	37	c.808_809insC	CCDS44963.1																																																																																				0.584	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		12	279						12	279	---	---	---	---
TMEM119	338773	broad.mit.edu	37	12	108985919	108985920	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:108985919_108985920insG	ENST00000392806.3	-	2	408_409	c.240_241insC	c.(238-243)cccaccfs	p.T81fs		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	81					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGGAAGTTGGTGGGGGGTGATG	0.653																																						ENST00000392806.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						c.(238-243)ccccaafs		transmembrane protein 119																																				SO:0001589	frameshift_variant	338773					integral to membrane		g.chr12:108985919_108985920insG	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.241dupC	12.37:g.108985925_108985925dupG	ENSP00000376553:p.Thr81fs		Somatic					p.Q81fs	NM_181724.2	NP_859075.2	WXS	Illumina GAIIx	Phase_I	Q4V9L6	TM119_HUMAN			2	408_409	-			81					Q6UXE5|Q8N2F5	Frame_Shift_Ins	INS	ENST00000392806.3	37	c.240_241insC	CCDS9119.1																																																																																				0.653	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		9	187						9	187	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109634893	109634894	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:109634893_109634894insG	ENST00000338432.7	+	17	2681_2682	c.2562_2563insG	c.(2563-2565)gggfs	p.G855fs	ACACB_ENST00000377854.5_Frame_Shift_Ins_p.G855fs|ACACB_ENST00000377848.3_Frame_Shift_Ins_p.G855fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	855					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCTGAATGATGGGGGGCTCCT	0.589																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2560-2565)gaggggfs		acetyl-CoA carboxylase beta	Biotin(DB00121)																																			SO:0001589	frameshift_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109634893_109634894insG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2568dupG	12.37:g.109634899_109634899dupG	ENSP00000341044:p.Gly855fs		Somatic				ACACB_ENST00000377848.3_Frame_Shift_Ins_p.EG854fs|ACACB_ENST00000377854.5_Frame_Shift_Ins_p.EG854fs	p.EG854fs			WXS	Illumina GAIIx	Phase_I	O00763	ACACB_HUMAN			17	2681_2682	+			854					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Frame_Shift_Ins	INS	ENST00000338432.7	37	c.2562_2563insG	CCDS31898.1																																																																																				0.589	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	253						7	253	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109927823	109927824	+	Intron	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:109927823_109927824insC	ENST00000342494.3	+	8	1225				UBE3B_ENST00000537063.1_Frame_Shift_Ins_p.CP215fs|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000434735.2_Intron	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTGACTCCTGCCCCCCAGTGT	0.465																																						ENST00000537063.1																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(643-645)tccfs		ubiquitin protein ligase E3B																																				SO:0001627	intron_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109927823_109927824insC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.630+14->C	12.37:g.109927829_109927829dupC			Somatic				UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000434735.2_Intron	p.S215fs			WXS	Illumina GAIIx	Phase_I	Q7Z3V4	UBE3B_HUMAN			8	881_882	+			0					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Frame_Shift_Ins	INS	ENST00000342494.3	37	c.644_645insC	CCDS9129.1																																																																																				0.465	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		18	1169						18	1169	---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cctfs	p.P144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.P130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(430-432)cgafs		myosin, light chain 2, regulatory, cardiac, slow																																				SO:0001589	frameshift_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348950_111348951insG		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.432dupC	12.37:g.111348956_111348956dupG	ENSP00000228841:p.Pro144fs		Somatic				MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs	p.R144fs	NM_000432.3	NP_000423.2	WXS	Illumina GAIIx	Phase_I	P10916	MLRV_HUMAN			7	478_479	-			144			EF-hand 3.		Q16123	Frame_Shift_Ins	INS	ENST00000228841.8	37	c.431_432insC	CCDS31901.1																																																																																				0.624	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		14	1253						14	1253	---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:112082051_112082052insC	ENST00000327551.6	-	12	1780_1781	c.1640_1641insG	c.(1639-1641)ggcfs	p.G547fs	BRAP_ENST00000539060.1_Frame_Shift_Ins_p.G398fs|BRAP_ENST00000419234.4_Frame_Shift_Ins_p.G577fs			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1729-1731)gagfs		BRCA1 associated protein																																				SO:0001589	frameshift_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112082051_112082052insC	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1641dupG	12.37:g.112082057_112082057dupC	ENSP00000330813:p.Gly547fs		Somatic				BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs	p.E577fs	NM_006768.3	NP_006759.3	WXS	Illumina GAIIx	Phase_I	Q7Z569	BRAP_HUMAN			12	1923_1924	-			577					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Ins	INS	ENST00000327551.6	37	c.1730_1731insG																																																																																					0.604	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			17	483						17	483	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:112130538_112130539insC	ENST00000313698.4	+	2	180_181	c.25_26insC	c.(25-27)tccfs	p.S9fs	ACAD10_ENST00000455480.2_Frame_Shift_Ins_p.S9fs|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.S9fs|ACAD10_ENST00000392636.2_5'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619																																						ENST00000455480.2																			1	Substitution - Missense(1)	p.S9F(1)	skin(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(25-27)cccfs		acyl-CoA dehydrogenase family, member 10																																				SO:0001589	frameshift_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112130538_112130539insC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.31dupC	12.37:g.112130544_112130544dupC	ENSP00000325137:p.Ser9fs		Somatic				ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs	p.P9fs	NM_001136538.1	NP_001130010.1	WXS	Illumina GAIIx	Phase_I	Q6JQN1	ACD10_HUMAN			2	202_203	+			9					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Frame_Shift_Ins	INS	ENST00000313698.4	37	c.25_26insC	CCDS31903.1																																																																																				0.619	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		8	980						8	980	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112630421	112630422	+	Frame_Shift_Ins	INS	-	-	G	rs554909250	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:112630421_112630422insG	ENST00000430131.2	-	58	9113_9114	c.7968_7969insC	c.(7966-7971)cccaccfs	p.T2657fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.T2907fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.T2933fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2657					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGTCAGCGGTGGGGGGAGGTG	0.604																																						ENST00000550722.1																			0											c.(8794-8799)ccccgcfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112630421_112630422insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7969dupC	12.37:g.112630427_112630427dupG	ENSP00000404379:p.Thr2657fs		Somatic				HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R2657fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R2907fs	p.R2933fs	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					59	9191_9192	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.8796_8797insC																																																																																					0.604	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	436						7	436	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG			Somatic				SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	31	1209						31	1209	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118199247	118199248	+	Frame_Shift_Ins	INS	-	-	G	rs373628463		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:118199247_118199248insG	ENST00000339824.5	-	4	1281_1282	c.554_555insC	c.(553-555)ccgfs	p.P185fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.P156fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	185	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGGGCTCCGGGGGGCACAC	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(466-468)cgafs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199247_118199248insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.555dupC	12.37:g.118199253_118199253dupG	ENSP00000339952:p.Pro185fs		Somatic				KSR2_ENST00000339824.5_Frame_Shift_Ins_p.R185fs	p.R156fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			4	521_522	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		185					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.467_468insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		14	406						14	406	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120214207	120214208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:120214207_120214208insA	ENST00000261833.7	-	15	1893_1894	c.1841_1842insT	c.(1840-1842)aagfs	p.K614fs	CIT_ENST00000392521.2_Frame_Shift_Ins_p.K614fs|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	614					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCTTGATCCTTAGCCTGTAA	0.356																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1840-1842)agafs		citron (rho-interacting, serine/threonine kinase 21)																																				SO:0001589	frameshift_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120214207_120214208insA	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1841_1842insT	12.37:g.120214207_120214208insA	ENSP00000261833:p.Lys614fs		Somatic				CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Frame_Shift_Ins_p.R614fs	p.R614fs	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	15	1896_1897	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	614					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Frame_Shift_Ins	INS	ENST00000261833.7	37	c.1841_1842insT	CCDS9192.1																																																																																				0.356	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		155	656						155	656	---	---	---	---
RNF34	80196	broad.mit.edu	37	12	121855615	121855616	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:121855615_121855616insT	ENST00000392464.2	+	3	603_604	c.534_535insT	c.(535-537)tttfs	p.F179fs	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Frame_Shift_Ins_p.F180fs|RNF34_ENST00000361234.5_Frame_Shift_Ins_p.F179fs					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TTACACGTTCGTTTTTTTCAAA	0.47																																						ENST00000361234.5																			0				breast(1)|large_intestine(1)	2						c.(532-537)tcttttfs		ring finger protein 34, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855615_121855616insT	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.541dupT	12.37:g.121855622_121855622dupT	ENSP00000376257:p.Phe179fs		Somatic				RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Frame_Shift_Ins_p.SF178fs|RNF34_ENST00000392465.3_Frame_Shift_Ins_p.SF179fs	p.SF178fs	NM_025126.3	NP_079402.2	WXS	Illumina GAIIx	Phase_I	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	706_707	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		178						Frame_Shift_Ins	INS	ENST00000392464.2	37	c.534_535insT																																																																																					0.470	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		14	1333						14	1333	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122720396	122720397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:122720396_122720397insC	ENST00000267199.4	-	11	1488_1489	c.1376_1377insG	c.(1375-1377)ggcfs	p.G459fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.G420fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	459					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATTGTTTCTGCCCCCCGTCTG	0.495																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1375-1377)gagfs		vacuolar protein sorting 33 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122720396_122720397insC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1377dupG	12.37:g.122720402_122720402dupC	ENSP00000267199:p.Gly459fs		Somatic				RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs	p.E459fs	NM_022916.4	NP_075067.2	WXS	Illumina GAIIx	Phase_I	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	11	1488_1489	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		459					Q547V4|Q9H5Q0	Frame_Shift_Ins	INS	ENST00000267199.4	37	c.1376_1377insG	CCDS9231.1																																																																																				0.495	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			13	443						13	443	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1660-1662)cccfs	p.P554fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.P517fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.P518fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.P518fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.P481fs			Q96L91	EP400_HUMAN	E1A binding protein p400	554					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1657-1662)atccccfs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466645_132466646insC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1665dupC	12.37:g.132466651_132466651dupC	ENSP00000333602:p.Pro554fs		Somatic				EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs	p.IP553fs			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1768_1769	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	553					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.1659_1660insC																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		32	2172						32	2172	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs529562240|rs141115887	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:133277869_133277870insG	ENST00000317479.3	+	4	498_499	c.433_434insG	c.(433-435)aggfs	p.R145fs	PXMP2_ENST00000545677.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.R52fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	145						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	23	0.00459265	0.0	0.0029	5008	,	,		16275	0.0		0.004	False		,,,				2504	0.0174					ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(46-48)gggfs		peroxisomal membrane protein 2, 22kDa				4,4258		0,4,2127						2.8	0.0			75	23,8231		0,23,4104	no	frameshift	PXMP2	NM_018663.1		0,27,6231	A1A1,A1R,RR		0.2787,0.0939,0.2157				27,12489				SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277869_133277870insG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.440dupG	12.37:g.133277876_133277876dupG	ENSP00000321271:p.Arg145fs		Somatic				RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs	p.G16fs			WXS	Illumina GAIIx	Phase_I	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	250_251	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Frame_Shift_Ins	INS	ENST00000317479.3	37	c.47_48insG	CCDS9279.1																																																																																				0.614	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		17	562						17	562	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19751158	19751159	+	Frame_Shift_Ins	INS	-	-	C	rs554935595		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:19751158_19751159insC	ENST00000400113.3	-	4	1068_1069	c.964_965insG	c.(964-966)gatfs	p.D322fs		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	322					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CGGGACCACATCCCCCCTGTAC	0.55																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(964-966)tgtfs		tubulin, alpha 3c																																				SO:0001589	frameshift_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751158_19751159insC	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.965dupG	13.37:g.19751164_19751164dupC	ENSP00000382982:p.Asp322fs		Somatic					p.C322fs	NM_006001.2	NP_005992.1	WXS	Illumina GAIIx	Phase_I	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	1068_1069	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	322					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Frame_Shift_Ins	INS	ENST00000400113.3	37	c.964_965insG	CCDS9284.1																																																																																				0.550	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		11	1037						11	1037	---	---	---	---
LINC00621	100996930	broad.mit.edu	37	13	23471486	23471486	+	lincRNA	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:23471486delT	ENST00000577004.1	-	0	652									long intergenic non-protein coding RNA 621																		CTTGTCACTCTTTCATGGCTA	0.532																																						ENST00000577004.1																			0																																																			100996930							g.chr13:23471486delT	AK091626		13q12.12	2012-10-12			ENSG00000262619	ENSG00000262619		"""Long non-coding RNAs"""	44227	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000177835		13.37:g.23471486delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	652	-									RNA	DEL	ENST00000577004.1	37																																																																																						0.532	LINC00621-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439167.1			2	4						2	4	---	---	---	---
ANKRD20A19P	400110	broad.mit.edu	37	13	24515467	24515468	+	RNA	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:24515467_24515468insT	ENST00000442969.1	-	0	1288_1289									ankyrin repeat domain 20 family, member A19, pseudogene																		TGGGAAAGCAGTTTTTTTGCCA	0.411																																						ENST00000442969.1																			0																																																			400110							g.chr13:24515467_24515468insT			13q12.12	2012-10-16			ENSG00000196593	ENSG00000196593			42737	pseudogene	pseudogene							Standard	NR_073430		Approved		uc001upb.2		OTTHUMG00000016572		13.37:g.24515474_24515474dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	1288_1289	-									RNA	INS	ENST00000442969.1	37																																																																																						0.411	ANKRD20A19P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044167.2			7	351						7	351	---	---	---	---
RNF6	6049	broad.mit.edu	37	13	26788240	26788241	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:26788240_26788241insA	ENST00000381588.4	-	5	2530_2531	c.1778_1779insT	c.(1777-1779)ttafs	p.L593fs	RNF6_ENST00000399762.2_Frame_Shift_Ins_p.L237fs|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Frame_Shift_Ins_p.L593fs|RNF6_ENST00000346166.3_Frame_Shift_Ins_p.L593fs	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	593					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCATTTAGTAAAAAAAAGTG	0.406																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1777-1779)tctfs		ring finger protein (C3H2C3 type) 6																																				SO:0001589	frameshift_variant	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788240_26788241insA	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1779dupT	13.37:g.26788248_26788248dupA	ENSP00000371000:p.Leu593fs		Somatic				RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Frame_Shift_Ins_p.S237fs|RNF6_ENST00000346166.3_Frame_Shift_Ins_p.S593fs|RNF6_ENST00000381570.3_Frame_Shift_Ins_p.S593fs	p.S593fs	NM_005977.3	NP_005968.1	WXS	Illumina GAIIx	Phase_I	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2530_2531	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	593					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Frame_Shift_Ins	INS	ENST00000381588.4	37	c.1778_1779insT	CCDS9316.1																																																																																				0.406	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		7	277						7	277	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32799963	32799964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:32799963_32799964insA	ENST00000380250.3	+	39	5554_5555	c.5058_5059insA	c.(5059-5061)aaafs	p.K1687fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1687						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGAACACAGCAAAAAACTGCT	0.441																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5056-5061)agaaaafs		furry homolog (Drosophila)																																				SO:0001589	frameshift_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32799963_32799964insA	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5064dupA	13.37:g.32799969_32799969dupA	ENSP00000369600:p.Lys1687fs		Somatic					p.RK1686fs	NM_023037.2	NP_075463.2	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	39	5554_5555	+		Lung SC(185;0.0271)	1686					Q9Y3N6	Frame_Shift_Ins	INS	ENST00000380250.3	37	c.5058_5059insA	CCDS41875.1																																																																																				0.441	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		7	1027						7	1027	---	---	---	---
CCNA1	8900	broad.mit.edu	37	13	37011855	37011856	+	Frame_Shift_Ins	INS	-	-	C	rs574280988		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:37011855_37011856insC	ENST00000255465.4	+	3	651_652	c.387_388insC	c.(388-390)cccfs	p.P130fs	CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.P86fs|CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.P86fs|CCNA1_ENST00000418263.1_Frame_Shift_Ins_p.P129fs			P78396	CCNA1_HUMAN	cyclin A1	130					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GGGTCCAAGAGCCCCCCAAGCA	0.505																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(382-387)gaccccfs		cyclin A1																																				SO:0001589	frameshift_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011855_37011856insC	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.393dupC	13.37:g.37011861_37011861dupC	ENSP00000255465:p.Pro130fs		Somatic				CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.DP85fs|CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.DP85fs|CCNA1_ENST00000255465.4_Frame_Shift_Ins_p.DP129fs	p.DP128fs	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	734_735	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	129					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Frame_Shift_Ins	INS	ENST00000255465.4	37	c.384_385insC	CCDS9357.1																																																																																				0.505	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		12	437						12	437	---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46658415	46658416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:46658415_46658416insA	ENST00000181383.4	-	3	229_230	c.213_214insT	c.(211-216)tttgtafs	p.V72fs	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.V72fs	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	72					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGGA	0.361																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(211-216)tttaaafs		carboxypeptidase B2 (plasma)																																				SO:0001589	frameshift_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46658415_46658416insA	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.214dupT	13.37:g.46658422_46658422dupA	ENSP00000181383:p.Val72fs		Somatic				CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.K72fs|CPB2-AS1_ENST00000606351.1_RNA	p.K72fs	NM_001872.3	NP_001863.3	WXS	Illumina GAIIx	Phase_I	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	3	229_230	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	72					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Frame_Shift_Ins	INS	ENST00000181383.4	37	c.213_214insT	CCDS9401.1																																																																																				0.361	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		7	612						7	612	---	---	---	---
ALG11	440138	broad.mit.edu	37	13	52602503	52602504	+	Frame_Shift_Ins	INS	-	-	G	rs201526759		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:52602503_52602504insG	ENST00000521508.1	+	4	1261_1262	c.1256_1257insG	c.(1255-1260)tcggggfs	p.SG419fs	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.G32fs|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.S419S(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCACACAATTCGGGGGGCCCAA	0.426																																						ENST00000521508.1																			1	Substitution - coding silent(1)	p.S419S(1)	lung(1)	endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(1255-1257)tggfs		ALG11, alpha-1,2-mannosyltransferase																																				SO:0001589	frameshift_variant	440138							g.chr13:52602503_52602504insG	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1262dupG	13.37:g.52602509_52602509dupG	ENSP00000430236:p.Ser419fs		Somatic				ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.LG31fs|UTP14C_ENST00000521776.2_5'UTR	p.W419fs	NM_001004127.2	NP_001004127.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(99;2.44e-08)	4	1261_1262	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Frame_Shift_Ins	INS	ENST00000521508.1	37	c.1256_1257insG	CCDS31977.1																																																																																				0.426	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		8	469						8	469	---	---	---	---
NEK3	4752	broad.mit.edu	37	13	52718828	52718829	+	Frame_Shift_Ins	INS	-	-	G	rs550776910|rs201408940		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:52718828_52718829insG	ENST00000400357.2	-	8	2094_2095	c.801_802insC	c.(799-804)cccgagfs	p.E268fs	NEK3_ENST00000452082.2_Frame_Shift_Ins_p.E289fs|NEK3_ENST00000378101.2_Frame_Shift_Ins_p.E268fs|NEK3_ENST00000339406.3_Frame_Shift_Ins_p.E268fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	268	Interaction with VAV2.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GATCATACCTCGGGGGGTAAGC	0.431																																						ENST00000400357.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18						c.(799-804)ccagatfs		NIMA-related kinase 3																																				SO:0001589	frameshift_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52718828_52718829insG	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.802dupC	13.37:g.52718834_52718834dupG	ENSP00000383210:p.Glu268fs		Somatic				NEK3_ENST00000339406.3_Frame_Shift_Ins_p.D268fs|NEK3_ENST00000452082.2_Frame_Shift_Ins_p.D289fs|NEK3_ENST00000378101.2_Frame_Shift_Ins_p.D268fs	p.D268fs			WXS	Illumina GAIIx	Phase_I	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	8	2094_2095	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	268			Interaction with VAV2.		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Frame_Shift_Ins	INS	ENST00000400357.2	37	c.801_802insC	CCDS53871.1																																																																																				0.431	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			7	493						7	493	---	---	---	---
LECT1	11061	broad.mit.edu	37	13	53277829	53277830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:53277829_53277830insC	ENST00000377962.3	-	7	983_984	c.905_906insG	c.(904-906)ggcfs	p.G302fs	LECT1_ENST00000448904.2_Frame_Shift_Ins_p.G301fs			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	302					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATGGGTAATAGCCCCCCAGGGG	0.525																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(901-903)gtafs		leukocyte cell derived chemotaxin 1																																				SO:0001589	frameshift_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53277829_53277830insC	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.906dupG	13.37:g.53277835_53277835dupC	ENSP00000367198:p.Gly302fs		Somatic				LECT1_ENST00000377962.3_Frame_Shift_Ins_p.V302fs	p.V301fs	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	WXS	Illumina GAIIx	Phase_I	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	7	1012_1013	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	302					Q5TAM4|Q8TAY6|Q9UM18	Frame_Shift_Ins	INS	ENST00000377962.3	37	c.902_903insG	CCDS9437.1																																																																																				0.525	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			9	177						9	177	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53421153	53421153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:53421153delG	ENST00000377942.3	-	1	1622	c.1419delC	c.(1417-1419)ggcfs	p.G473fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G473fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	473	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGGGGGCGCGCCGCGATCCT	0.706																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1417-1419)ggfs		protocadherin 8							8.0	8.0	8.0					13																	53421153		2121	4168	6289	SO:0001589	frameshift_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421153delG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1419delC	13.37:g.53421153delG	ENSP00000367177:p.Gly473fs		Somatic				PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G473fs	p.G473fs	NM_002590.3	NP_002581.2	WXS	Illumina GAIIx	Phase_I	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1622	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	473			Cadherin 4.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Frame_Shift_Del	DEL	ENST00000377942.3	37	c.1419delC	CCDS9438.1																																																																																				0.706	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		4	8						4	8	---	---	---	---
LINC00459	100874180	broad.mit.edu	37	13	62902515	62902516	+	lincRNA	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:62902515_62902516insA	ENST00000431656.1	+	0	298									long intergenic non-protein coding RNA 459																		GCTGTGCAGAGAAAAAAATCAA	0.381																																						ENST00000431656.1																			0																																																			100874180							g.chr13:62902515_62902516insA			13q21.31	2012-10-12			ENSG00000229307	ENSG00000229307		"""Long non-coding RNAs"""	42808	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000017015		13.37:g.62902522_62902522dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	298	+									RNA	INS	ENST00000431656.1	37																																																																																						0.381	LINC00459-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000045187.1			3	6						3	6	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:76375005_76375006insG	ENST00000341547.4	+	8	2064_2065	c.804_805insG	c.(805-807)gggfs	p.G269fs	LMO7_ENST00000377534.3_Frame_Shift_Ins_p.G269fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000357063.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.G178fs	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	269					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.45																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(802-807)agggggfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375005_76375006insG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.810dupG	13.37:g.76375011_76375011dupG	ENSP00000342112:p.Gly269fs		Somatic				LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs	p.RG268fs			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2064_2065	+		Breast(118;0.0992)	268					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Ins	INS	ENST00000341547.4	37	c.804_805insG	CCDS9454.1																																																																																				0.450	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		13	659						13	659	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327657	88327658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:88327657_88327658insC	ENST00000325089.6	+	2	233_234	c.14_15insC	c.(13-18)tgccccfs	p.CP5fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	5					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACACTTGCTGCCCCCCAGTAA	0.436																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(13-15)tccfs		SLIT and NTRK-like family, member 5																																				SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88327657_88327658insC	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.20dupC	13.37:g.88327663_88327663dupC	ENSP00000366283:p.Cys5fs		Somatic				SLITRK5_ENST00000400028.3_Intron	p.S5fs	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	O94991	SLIK5_HUMAN			2	233_234	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		5					B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Ins	INS	ENST00000325089.6	37	c.14_15insC	CCDS9465.1																																																																																				0.436	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	426						7	426	---	---	---	---
OXGR1	27199	broad.mit.edu	37	13	97639249	97639250	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:97639249_97639250insA	ENST00000298440.1	-	4	1007_1008	c.764_765insT	c.(763-765)ttafs	p.L255fs	OXGR1_ENST00000543457.1_Frame_Shift_Ins_p.L255fs	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	255					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATGGAAGGGTAAAAAACATAC	0.441																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(763-765)tccfs		oxoglutarate (alpha-ketoglutarate) receptor 1																																				SO:0001589	frameshift_variant	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639249_97639250insA	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.765dupT	13.37:g.97639255_97639255dupA	ENSP00000298440:p.Leu255fs		Somatic				OXGR1_ENST00000543457.1_Frame_Shift_Ins_p.S255fs	p.S255fs	NM_080818.3	NP_543008.3	WXS	Illumina GAIIx	Phase_I	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	1007_1008	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		255					Q5T5A7|Q86TL1	Frame_Shift_Ins	INS	ENST00000298440.1	37	c.764_765insT	CCDS9482.1																																																																																				0.441	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		8	356						8	356	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs		Somatic					p.P57fs	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			18	892						18	892	---	---	---	---
OR11H6	122748	broad.mit.edu	37	14	20692231	20692232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:20692231_20692232insT	ENST00000315519.2	+	1	441_442	c.363_364insT	c.(364-366)tttfs	p.F122fs		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S124fs*31(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AATTCTATTTCTTTTTTTCACT	0.421																																						ENST00000315519.2																			1	Deletion - Frameshift(1)	p.S124fs*31(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(361-366)ttttttfs		olfactory receptor, family 11, subfamily H, member 6				0,4264		0,0,2132						1.8	1.0			152	1,8253		0,1,4126	no	frameshift	OR11H6	NM_001004480.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692231_20692232insT		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.370dupT	14.37:g.20692238_20692238dupT	ENSP00000319071:p.Phe122fs		Somatic					p.FF121fs	NM_001004480.1	NP_001004480.1	WXS	Illumina GAIIx	Phase_I	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	441_442	+	all_cancers(95;0.00108)		121					Q6IF08	Frame_Shift_Ins	INS	ENST00000315519.2	37	c.363_364insT	CCDS32033.1																																																																																				0.421	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			9	739						9	739	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2203-2205)gggfs	p.G735fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.G735fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	735						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2200-2205)gaggggfs		Rho guanine nucleotide exchange factor (GEF) 40																																				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546603_21546604insG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2209dupG	14.37:g.21546610_21546610dupG	ENSP00000298694:p.Gly735fs		Somatic				ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs	p.EG734fs			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			10	2329_2330	+			734					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.2202_2203insG	CCDS32041.1																																																																																				0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			14	287						14	287	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21556191	21556192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:21556191_21556192insC	ENST00000298694.4	+	22	4579_4580	c.4452_4453insC	c.(4453-4455)cccfs	p.P1485fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.P1437fs|RP11-998D10.7_ENST00000554733.2_lincRNA			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1485						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCAGCCTGCAACCCCCCCACCC	0.574																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(4450-4455)caccccfs		Rho guanine nucleotide exchange factor (GEF) 40				6,4258		0,6,2126						0.3	0.6			68	4,8250		0,4,4123	no	frameshift	ARHGEF40	NM_018071.3		0,10,6249	A1A1,A1R,RR		0.0485,0.1407,0.0799				10,12508				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21556191_21556192insC		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.4459dupC	14.37:g.21556198_21556198dupC	ENSP00000298694:p.Pro1485fs		Somatic				ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.HP1436fs	p.HP1484fs			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			22	4579_4580	+			1484					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.4452_4453insC	CCDS32041.1																																																																																				0.574	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			10	227						10	227	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)ccafs	p.P25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.48																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(73-75)caafs		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001589	frameshift_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102924_22102925insG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.75dupC	14.37:g.22102930_22102930dupG	ENSP00000445383:p.Pro25fs		Somatic					p.Q25fs	NM_001005466.1	NP_001005466.1	WXS	Illumina GAIIx	Phase_I	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	171_172	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	25					B2RPD0	Frame_Shift_Ins	INS	ENST00000542433.1	37	c.74_75insC	CCDS32047.1																																																																																				0.480	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			13	522						13	522	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C	rs570668890	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139									T cell receptor alpha variable 3 (gene/pseudogene)																		GCTGGAAAGGACCCCCCCAATC	0.574																																						ENST00000390425.2																			0																																																			28690							g.chr14:22192097_22192098insC	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192104_22192104dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	138_139	+									RNA	INS	ENST00000390425.2	37																																																																																						0.574	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		10	268						10	268	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23523784_23523785insC	ENST00000267383.5	-	4	806_807	c.714_715insG	c.(712-717)gggctgfs	p.L239fs	CDH24_ENST00000397359.3_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.L239fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(712-717)ggtgtcfs		cadherin 24, type 2																																				SO:0001589	frameshift_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523784_23523785insC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.715dupG	14.37:g.23523791_23523791dupC	ENSP00000267383:p.Leu239fs		Somatic	OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000554034.1_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000267383.5_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.V239fs	p.V239fs	NM_022478.3	NP_071923.2	WXS	Illumina GAIIx	Phase_I	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	973_974	-	all_cancers(95;3.3e-05)		239			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	ENST00000267383.5	37	c.714_715insG	CCDS9585.1																																																																																				0.609	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		8	200						8	200	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719). {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.5																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1339-1341)ggtfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549377_23549378insG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1341dupC	14.37:g.23549378_23549378dupG	ENSP00000262710:p.Ala447fs		Somatic				ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs	p.G447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina GAIIx	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1667_1668	-	all_cancers(95;1.36e-05)		447		A -> P (in dbSNP:rs941719).			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1340_1341insC	CCDS9587.1																																																																																				0.500	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		42	978						42	978	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745309	23745310	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23745309_23745310insA	ENST00000357460.5	-	2	1291_1292	c.1127_1128insT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000431326.2_Frame_Shift_Ins_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Ins_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACTGGCACTGTAAAAAAAAGGA	0.49																																						ENST00000357460.5																			1	Deletion - Frameshift(1)	p.L376fs*14(1)	large_intestine(1)	endometrium(5)|lung(7)	12						c.(1126-1128)tcafs		homeobox and leucine zipper encoding																																				SO:0001589	frameshift_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745309_23745310insA	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1128dupT	14.37:g.23745317_23745317dupA	ENSP00000350049:p.Leu376fs		Somatic				HOMEZ_ENST00000561013.1_Frame_Shift_Ins_p.S378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Ins_p.S378fs	p.S376fs	NM_020834.2	NP_065885.2	WXS	Illumina GAIIx	Phase_I	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1291_1292	-	all_cancers(95;5.54e-06)		376					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Ins	INS	ENST00000357460.5	37	c.1127_1128insT	CCDS45085.1																																																																																				0.490	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		8	413						8	413	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24655355	24655356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:24655355_24655356insG	ENST00000354464.6	-	11	1214_1215	c.1038_1039insC	c.(1036-1041)cccgagfs	p.E347fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	347					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTTCTCGGGGGGCAGGT	0.589																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(1036-1041)ccagaafs		importin 4																																				SO:0001589	frameshift_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655355_24655356insG	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1039dupC	14.37:g.24655361_24655361dupG	ENSP00000346453:p.Glu347fs		Somatic				RP11-468E2.2_ENST00000561419.1_3'UTR	p.E347fs	NM_024658.3	NP_078934.3	WXS	Illumina GAIIx	Phase_I	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	11	1214_1215	-			347					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Frame_Shift_Ins	INS	ENST00000354464.6	37	c.1038_1039insC	CCDS9616.1																																																																																				0.589	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		21	865						21	865	---	---	---	---
NEDD8	4738	broad.mit.edu	37	14	24687374	24687375	+	Frame_Shift_Ins	INS	-	-	G	rs74744808		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:24687374_24687375insG	ENST00000250495.5	-	3	299_300	c.113_114insC	c.(112-114)ccafs	p.P38fs	NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000288087.7_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'Flank|NEDD8_ENST00000524927.1_Frame_Shift_Ins_p.P38fs|MDP1_ENST00000396833.2_5'Flank|NEDD8-MDP1_ENST00000534348.1_Frame_Shift_Ins_p.P38fs	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	38					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TCTGCTGTTGTGGGGGGATTCC	0.525																																						ENST00000250495.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(112-114)ccafs		neural precursor cell expressed, developmentally down-regulated 8																																				SO:0001589	frameshift_variant	4738							g.chr14:24687374_24687375insG	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.114dupC	14.37:g.24687380_24687380dupG	ENSP00000250495:p.Pro38fs		Somatic				NEDD8_ENST00000524927.1_Frame_Shift_Ins_p.P38fs|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Frame_Shift_Ins_p.P38fs	p.P38fs	NM_006156.2	NP_006147.1	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(265;0.0186)	3	299_300	-								Q3SXN8|Q6LES6	Frame_Shift_Ins	INS	ENST00000250495.5	37	c.113_114insC	CCDS9621.1																																																																																				0.525	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156		9	636						9	636	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(25-27)cccfs		A kinase (PRKA) anchor protein 6																																				SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902724_32902725insC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.31dupC	14.37:g.32902730_32902730dupC	ENSP00000280979:p.Ser9fs		Somatic				AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	p.P9fs	NM_004274.4	NP_004265.3	WXS	Illumina GAIIx	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	195_196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Ins	INS	ENST00000280979.4	37	c.25_26insC	CCDS9644.1																																																																																				0.505	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	556						8	556	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52481918	52481919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:52481918_52481919insG	ENST00000216286.5	-	15	3102_3103	c.3103_3104insC	c.(3103-3105)cggfs	p.R1035fs	NID2_ENST00000541773.1_Frame_Shift_Ins_p.R934fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1035	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCCA	0.624																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3103-3105)ggafs		nidogen 2 (osteonidogen)																																				SO:0001589	frameshift_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481918_52481919insG	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3104dupC	14.37:g.52481924_52481924dupG	ENSP00000216286:p.Arg1035fs		Somatic				NID2_ENST00000541773.1_Frame_Shift_Ins_p.G934fs	p.G1035fs	NM_007361.3	NP_031387.3	WXS	Illumina GAIIx	Phase_I	Q14112	NID2_HUMAN			15	3102_3103	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1035			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Frame_Shift_Ins	INS	ENST00000216286.5	37	c.3103_3104insC	CCDS9706.1																																																																																				0.624	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			8	293						8	293	---	---	---	---
SAMD4A	23034	broad.mit.edu	37	14	55203891	55203892	+	Frame_Shift_Ins	INS	-	-	C	rs545730881		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:55203891_55203892insC	ENST00000554335.1	+	4	1528_1529	c.865_866insC	c.(865-867)gccfs	p.A289fs	SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.A289fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.A288fs			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	289					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATCCGATCATGCCCCCCTGTCT	0.525																																						ENST00000392067.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(865-867)cccfs		sterile alpha motif domain containing 4A																																				SO:0001589	frameshift_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55203891_55203892insC	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.871dupC	14.37:g.55203897_55203897dupC	ENSP00000452535:p.Ala289fs		Somatic				SAMD4A_ENST00000554335.1_Frame_Shift_Ins_p.P289fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.P288fs|SAMD4A_ENST00000251091.5_Intron	p.P289fs	NM_015589.5	NP_056404.4	WXS	Illumina GAIIx	Phase_I	Q9UPU9	SMAG1_HUMAN			3	865_866	+			289					A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Ins	INS	ENST00000554335.1	37	c.865_866insC	CCDS32084.2																																																																																				0.525	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		10	1497						10	1497	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		20	386						20	386	---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68053849	68053850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:68053849_68053850insC	ENST00000329153.5	+	29	4124_4125	c.3992_3993insC	c.(3991-3996)aaccccfs	p.NP1331fs	PLEKHH1_ENST00000417684.2_Frame_Shift_Ins_p.P273fs	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1331	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAACTGTGAACCCCCCCACCA	0.515																																						ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(3991-3993)accfs		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1																																				SO:0001589	frameshift_variant	57475					cytoskeleton	binding	g.chr14:68053849_68053850insC	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3999dupC	14.37:g.68053856_68053856dupC	ENSP00000330278:p.Asn1331fs		Somatic				PLEKHH1_ENST00000417684.2_Frame_Shift_Ins_p.DP272fs	p.T1331fs	NM_020715.2	NP_065766.1	WXS	Illumina GAIIx	Phase_I	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	29	4124_4125	+			1331			FERM.		A6H8X6|Q6PJL4|Q6ZWC7	Frame_Shift_Ins	INS	ENST00000329153.5	37	c.3992_3993insC	CCDS45128.1																																																																																				0.515	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		8	106						8	106	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3489)gtggggfs	p.VG1162fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.VG1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.VG637fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.VG1162fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3484-3486)gggfs		signal-induced proliferation-associated 1 like 1																																				SO:0001589	frameshift_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72165808_72165809insG	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3491dupG	14.37:g.72165814_72165814dupG	ENSP00000450832:p.Val1162fs		Somatic				SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs	p.G1162fs	NM_015556.1	NP_056371.1	WXS	Illumina GAIIx	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	11	3833_3834	+			1162					J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	c.3485_3486insG	CCDS9807.1																																																																																				0.495	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	371						8	371	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74972756	74972757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:74972756_74972757insC	ENST00000261978.4	-	28	4557_4558	c.4171_4172insG	c.(4171-4173)gctfs	p.A1391fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.A1347fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1391					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCACCTCCAGCCCCCCGTGGG	0.634																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4171-4173)tggfs		latent transforming growth factor beta binding protein 2																																				SO:0001589	frameshift_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74972756_74972757insC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4172dupG	14.37:g.74972762_74972762dupC	ENSP00000261978:p.Ala1391fs		Somatic				LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs	p.W1391fs	NM_000428.2	NP_000419.1	WXS	Illumina GAIIx	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	28	4557_4558	-			1391					Q99907|Q9NS51	Frame_Shift_Ins	INS	ENST00000261978.4	37	c.4171_4172insG	CCDS9831.1																																																																																				0.634	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		10	697						10	697	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248345	75248346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:75248345_75248346insC	ENST00000552421.1	+	4	1723_1724	c.1599_1600insC	c.(1600-1602)cccfs	p.P534fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.P534fs|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TACCTACAATGCCCCCTCCAGT	0.53																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1597-1602)atccccfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248345_75248346insC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1604dupC	14.37:g.75248350_75248350dupC	ENSP00000447921:p.Pro534fs		Somatic				YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.IP533fs|YLPM1_ENST00000238571.3_Intron	p.IP533fs	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1723_1724	+			340					P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37	c.1599_1600insC																																																																																					0.530	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		9	1025						9	1025	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81610152	81610153	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:81610152_81610153insT	ENST00000541158.2	+	11	2072_2073	c.1750_1751insT	c.(1750-1752)gttfs	p.V584fs	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Frame_Shift_Ins_p.V584fs			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	584					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGCATATATTGTTTTTGTTCTG	0.5			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1750-1752)tttfs		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)																																			SO:0001589	frameshift_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610152_81610153insT	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1755dupT	14.37:g.81610157_81610157dupT	ENSP00000441235:p.Val584fs		Somatic				RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Frame_Shift_Ins_p.F584fs	p.F584fs			WXS	Illumina GAIIx	Phase_I	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2072_2073	+			584					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Frame_Shift_Ins	INS	ENST00000541158.2	37	c.1750_1751insT	CCDS9872.1																																																																																				0.500	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		7	1505						7	1505	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89628892	89628893	+	Frame_Shift_Ins	INS	-	-	G	rs529494902		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:89628892_89628893insG	ENST00000345097.4	-	7	1454_1455	c.1338_1339insC	c.(1336-1341)cccgagfs	p.E447fs	FOXN3_ENST00000557258.1_Frame_Shift_Ins_p.E425fs|FOXN3_ENST00000555353.1_Frame_Shift_Ins_p.E425fs|FOXN3_ENST00000261302.5_Frame_Shift_Ins_p.E447fs	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	447					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCGCTCTCGGGGGGCTTTT	0.584																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1336-1341)ccagagfs		forkhead box N3																																				SO:0001589	frameshift_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89628892_89628893insG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1339dupC	14.37:g.89628898_89628898dupG	ENSP00000343288:p.Glu447fs		Somatic				FOXN3_ENST00000557258.1_Frame_Shift_Ins_p.E425fs|FOXN3_ENST00000555353.1_Frame_Shift_Ins_p.E425fs|FOXN3_ENST00000261302.5_Frame_Shift_Ins_p.E447fs	p.E447fs	NM_001085471.1	NP_001078940.1	WXS	Illumina GAIIx	Phase_I	O00409	FOXN3_HUMAN			7	1454_1455	-			447					Q96II7|Q9UIE7	Frame_Shift_Ins	INS	ENST00000345097.4	37	c.1338_1339insC	CCDS41977.1																																																																																				0.584	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		8	108						8	108	---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91739545	91739546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:91739545_91739546insC	ENST00000389857.6	-	30	5596_5597	c.5510_5511insG	c.(5509-5511)ggcfs	p.G1837fs	CCDC88C_ENST00000331194.7_Frame_Shift_Ins_p.G361fs	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1837					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGTCTCTCTGCCCCCTAAGGC	0.683																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(5509-5511)gagfs		coiled-coil domain containing 88C																																				SO:0001589	frameshift_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91739545_91739546insC		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5511dupG	14.37:g.91739550_91739550dupC	ENSP00000374507:p.Gly1837fs		Somatic				CCDC88C_ENST00000331194.7_Frame_Shift_Ins_p.E361fs	p.E1837fs	NM_001080414.3	NP_001073883.2	WXS	Illumina GAIIx	Phase_I	Q9P219	DAPLE_HUMAN			30	5596_5597	-		all_cancers(154;0.0468)	1837					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Frame_Shift_Ins	INS	ENST00000389857.6	37	c.5510_5511insG	CCDS45151.1																																																																																				0.683	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		2	4						2	4	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723|rs121912712	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)cccgagfs	p.E387fs	SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.E387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch; dbSNP:rs121912712).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACTTGACCTCGGGGGGGATAG	0.49																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24	GRCh37	CD890162|CI941951	SERPINA1	D|I	rs121912712|rs143329723	c.(1156-1161)ccaggtfs		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)																																			SO:0001589	frameshift_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94844884_94844885insG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1159dupC	14.37:g.94844891_94844891dupG	ENSP00000416066:p.Glu387fs		Somatic				SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs	p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	WXS	Illumina GAIIx	Phase_I	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	7	1730_1731	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	387		E -> K (in Christchurch).	RCL.		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Ins	INS	ENST00000448921.1	37	c.1158_1159insC	CCDS9925.1																																																																																				0.490	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		7	301						7	301	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96798913	96798914	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:96798913_96798914insG	ENST00000359933.4	-	9	2179_2180	c.1286_1287insC	c.(1285-1287)ccafs	p.P429fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	429					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTCCATGTTTGGGGGGTCCCC	0.396																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1285-1287)caafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96798913_96798914insG	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1287dupC	14.37:g.96798919_96798919dupG	ENSP00000353010:p.Pro429fs		Somatic					p.Q429fs	NM_018036.5	NP_060506.5	WXS	Illumina GAIIx	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	9	2179_2180	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	429					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.1286_1287insC	CCDS9944.2																																																																																				0.396	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		7	174						7	174	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103416894	103416895	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:103416894_103416895insG	ENST00000361246.2	-	25	3505_3506	c.3217_3218insC	c.(3217-3219)cagfs	p.Q1073fs		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGGCACACCTGGGGGGCACCG	0.584																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3217-3219)ggtfs		CDC42 binding protein kinase beta (DMPK-like)																																				SO:0001589	frameshift_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416894_103416895insG	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3218dupC	14.37:g.103416900_103416900dupG	ENSP00000355237:p.Gln1073fs		Somatic					p.G1073fs	NM_006035.3	NP_006026.3	WXS	Illumina GAIIx	Phase_I	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	25	3505_3506	-		Melanoma(154;0.155)	1073						Frame_Shift_Ins	INS	ENST00000361246.2	37	c.3217_3218insC	CCDS9978.1																																																																																				0.584	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		8	560						8	560	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106236280	106236281	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:106236280_106236281insG	ENST00000390551.2	-	0	522_523							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGGTTTTGGGGGGAAGAG	0.594																																						ENST00000390551.2																			0																																																			3502							g.chr14:106236280_106236281insG	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236286_106236286dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	522_523	-								A2NU35	RNA	INS	ENST00000390551.2	37																																																																																						0.594	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		7	413						7	413	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382641	22382642	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:22382641_22382642insC	ENST00000328795.4	+	1	260_261	c.169_170insC	c.(169-171)gccfs	p.A57fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 4																																				SO:0001589	frameshift_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382641_22382642insC	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.175dupC	15.37:g.22382647_22382647dupC	ENSP00000332500:p.Ala57fs		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.P57fs	NM_001005241.2	NP_001005241.2	WXS	Illumina GAIIx	Phase_I	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	260_261	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	57					Q6IEY3|Q6IF56	Frame_Shift_Ins	INS	ENST00000328795.4	37	c.169_170insC	CCDS32173.1																																																																																				0.460	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			8	608						8	608	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNORD116-6_ENST00000384711.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA			Somatic				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA				WXS	Illumina GAIIx	Phase_I					0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			10	656						10	656	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25315598	25315599	+	RNA	INS	-	-	A	rs149955138	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:25315598_25315599insA	ENST00000549804.2	+	0	678				SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-8_ENST00000384365.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAACATT	0.49																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25315598_25315599insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25315605_25315605dupA			Somatic				SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA				WXS	Illumina GAIIx	Phase_I					0	678	+									RNA	INS	ENST00000549804.2	37																																																																																						0.490	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			9	677						9	677	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25342826	25342827	+	RNA	INS	-	-	AAAA			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:25342826_25342827insAAAA	ENST00000546682.1	+	0	1229				SNORD116-25_ENST00000516517.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGATGACTTTAAAATGGATCT	0.485																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25342826_25342827insAAAA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25342827_25342830dupAAAA			Somatic				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA		NR_003361.1		WXS	Illumina GAIIx	Phase_I					0	1229	+									RNA	INS	ENST00000546682.1	37																																																																																						0.485	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			12	411						12	411	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31355449	31355450	+	Frame_Shift_Ins	INS	-	-	C	rs371005282		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:31355449_31355450insC	ENST00000256552.6	-	8	983_984	c.836_837insG	c.(835-837)ggcfs	p.G279fs	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000542188.1_Frame_Shift_Ins_p.G296fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.G257fs	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACGTTAGGGCCCCCCTCCAC	0.614																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(886-888)gccfs		transient receptor potential cation channel, subfamily M, member 1																																				SO:0001589	frameshift_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355449_31355450insC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.837dupG	15.37:g.31355455_31355455dupC	ENSP00000256552:p.Gly279fs		Somatic				TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.A279fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.A257fs	p.A296fs	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	7	1200_1201	-		all_lung(180;1.92e-11)	257						Frame_Shift_Ins	INS	ENST00000256552.6	37	c.887_888insG	CCDS58346.1																																																																																				0.614	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		8	556						8	556	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32928531	32928531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:32928531delG	ENST00000361627.3	+	12	2279	c.1557delG	c.(1555-1557)atgfs	p.M519fs	ARHGAP11A_ENST00000543522.1_Frame_Shift_Del_p.M330fs|ARHGAP11A_ENST00000565905.1_Frame_Shift_Del_p.M330fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	519					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTACCGGATGTCTTGGACAG	0.383																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1555-1557)atfs		Rho GTPase activating protein 11A							64.0	68.0	66.0					15																	32928531		2201	4300	6501	SO:0001589	frameshift_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928531delG	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1557delG	15.37:g.32928531delG	ENSP00000355090:p.Met519fs		Somatic				ARHGAP11A_ENST00000543522.1_Frame_Shift_Del_p.M330fs|ARHGAP11A_ENST00000565905.1_Frame_Shift_Del_p.M330fs	p.M519fs	NM_014783.3	NP_055598.1	WXS	Illumina GAIIx	Phase_I	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2279	+		all_lung(180;1.3e-11)	519					B4DZN9|Q6PI96|Q9Y3S6	Frame_Shift_Del	DEL	ENST00000361627.3	37	c.1557delG	CCDS10028.1																																																																																				0.383	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		29	53						29	53	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6708)gaggggfs	p.EG2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.EG2235fs|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6703-6705)gggfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015000_34015001insG		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6710dupG	15.37:g.34015006_34015006dupG	ENSP00000373884:p.Glu2235fs		Somatic				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	p.G2235fs	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6774_6775	+		all_lung(180;7.18e-09)	2235			4 X approximate repeats.		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.6704_6705insG	CCDS45210.1																																																																																				0.584	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	1106						9	1106	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9460-9462)cccfs	p.P3154fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P3154fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3154					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9457-9462)ctccccfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078053_34078054insC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9465dupC	15.37:g.34078059_34078059dupC	ENSP00000373884:p.Pro3154fs		Somatic				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	p.LP3153fs	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9529_9530	+		all_lung(180;7.18e-09)	3153					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.9459_9460insC	CCDS45210.1																																																																																				0.564	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	549						9	549	---	---	---	---
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)cccgaafs	p.E122fs	BMF_ENST00000558774.1_Intron|BMF_ENST00000561360.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000220446.4_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.E122fs|BMF_ENST00000559701.1_Intron|BMF_ENST00000397573.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.E122fs	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(361-366)ccaaggfs		Bcl2 modifying factor																																				SO:0001589	frameshift_variant	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40396470_40396471insG	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.364dupC	15.37:g.40396476_40396476dupG	ENSP00000346697:p.Glu122fs		Somatic				BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000559701.1_Intron|BMF_ENST00000220446.4_Intron|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs	p.R122fs	NM_001003940.1	NP_001003940.1	WXS	Illumina GAIIx	Phase_I	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	4	597_598	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	122					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Frame_Shift_Ins	INS	ENST00000354670.4	37	c.363_364insC	CCDS10052.1																																																																																				0.569	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		18	2043						18	2043	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		Somatic	OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	WXS	Illumina GAIIx	Phase_I	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		53	617						53	617	---	---	---	---
IVD	3712	broad.mit.edu	37	15	40707167	40707168	+	Frame_Shift_Ins	INS	-	-	G	rs568885234		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:40707167_40707168insG	ENST00000249760.2	+	8	1207_1208	c.864_865insG	c.(865-867)gggfs	p.G289fs	IVD_ENST00000479013.2_Frame_Shift_Ins_p.G262fs|IVD_ENST00000487418.2_Frame_Shift_Ins_p.G292fs	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	289					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	TGGTGCTGGCCGGGGGGCCTCT	0.629																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(862-867)gcggggfs		isovaleryl-CoA dehydrogenase																																				SO:0001589	frameshift_variant	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40707167_40707168insG	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.870dupG	15.37:g.40707173_40707173dupG	ENSP00000249760:p.Gly289fs		Somatic				IVD_ENST00000487418.2_Frame_Shift_Ins_p.AG291fs|IVD_ENST00000479013.2_Frame_Shift_Ins_p.AG261fs	p.AG288fs	NM_002225.3	NP_002216.2	WXS	Illumina GAIIx	Phase_I	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	8	1207_1208	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	288					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Frame_Shift_Ins	INS	ENST00000249760.2	37	c.864_865insG																																																																																					0.629	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				12	457						12	457	---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G	rs145578237		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cacfs	p.H527fs	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1579-1581)cctfs		EH-domain containing 4				15,4243		0,15,2114						4.7	1.0			23	11,8239		0,11,4114	no	frameshift	EHD4	NM_139265.3		0,26,6228	A1A1,A1R,RR		0.1333,0.3523,0.2079				26,12482				SO:0001589	frameshift_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42192889_42192890insG	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1580dupC	15.37:g.42192896_42192896dupG	ENSP00000220325:p.His527fs		Somatic					p.P527fs	NM_139265.3	NP_644670.1	WXS	Illumina GAIIx	Phase_I	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1662_1663	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	527			EH.		Q9HAR1|Q9NZN2	Frame_Shift_Ins	INS	ENST00000220325.4	37	c.1579_1580insC	CCDS10081.1																																																																																				0.673	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		14	189						14	189	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42652164	42652165	+	Frame_Shift_Del	DEL	TC	TC	-	rs527776745	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:42652164_42652165delTC	ENST00000397163.3	+	1	380_381	c.161_162delTC	c.(160-162)atcfs	p.I54fs	CAPN3_ENST00000318023.7_Frame_Shift_Del_p.I54fs|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000357568.3_Frame_Shift_Del_p.I54fs|CAPN3_ENST00000349748.3_Frame_Shift_Del_p.I54fs	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	54					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTTCCTATTATCGGAGTGAAAG	0.505																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(160-162)afs		calpain 3, (p94)																																				SO:0001589	frameshift_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42652164_42652165delTC	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.161_162delTC	15.37:g.42652164_42652165delTC	ENSP00000380349:p.Ile54fs		Somatic				RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Frame_Shift_Del_p.I54fs|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000357568.3_Frame_Shift_Del_p.I54fs|CAPN3_ENST00000349748.3_Frame_Shift_Del_p.I54fs	p.I54fs	NM_000070.2	NP_000061.1	WXS	Illumina GAIIx	Phase_I	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	1	380_381	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	54					A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Frame_Shift_Del	DEL	ENST00000397163.3	37	c.161_162delTC	CCDS45245.1																																																																																				0.505	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			47	921						47	921	---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43019889	43019890	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43019889_43019890insC	ENST00000356231.3	-	23	3048_3049	c.3025_3026insG	c.(3025-3027)gagfs	p.E1009fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1009					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCCCCTCCGCTCCCCCCGGGCA	0.634																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(3025-3027)gcgfs		codanin 1																																				SO:0001589	frameshift_variant	146059					integral to membrane	protein binding	g.chr15:43019889_43019890insC	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3026dupG	15.37:g.43019895_43019895dupC	ENSP00000348564:p.Glu1009fs		Somatic					p.A1009fs	NM_138477.2	NP_612486.2	WXS	Illumina GAIIx	Phase_I	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	23	3048_3049	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1009					Q6NYD0|Q7Z7L5|Q969N3	Frame_Shift_Ins	INS	ENST00000356231.3	37	c.3025_3026insG	CCDS32209.1																																																																																				0.634	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		8	164						8	164	---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43021326	43021327	+	Splice_Site	INS	-	-	G	rs35158439|rs201401533		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43021326_43021327insG	ENST00000356231.3	-	19	2565		c.e19-2			NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1						chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGCTGTGCCTGGGGGGAGGAG	0.629																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.e19-2		codanin 1																																				SO:0001630	splice_region_variant	146059					integral to membrane	protein binding	g.chr15:43021326_43021327insG	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2542-2->C	15.37:g.43021332_43021332dupG			Somatic						NM_138477.2	NP_612486.2	WXS	Illumina GAIIx	Phase_I	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	19	2565	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)						Q6NYD0|Q7Z7L5|Q969N3	Splice_Site	INS	ENST00000356231.3	37		CCDS32209.1																																																																																				0.629	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300	Intron	9	476						9	476	---	---	---	---
TMEM62	80021	broad.mit.edu	37	15	43473386	43473387	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43473386_43473387insT	ENST00000260403.2	+	13	1773_1774	c.1494_1495insT	c.(1495-1497)tttfs	p.F499fs	TMEM62_ENST00000569369.1_3'UTR|EPB42_ENST00000563128.1_Intron|RP11-473C18.3_ENST00000565685.1_RNA	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	499						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TAGGTCCATGGTTTTTTGGTGA	0.327																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1492-1497)tgttttfs		transmembrane protein 62																																				SO:0001589	frameshift_variant	80021					integral to membrane		g.chr15:43473386_43473387insT	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1500dupT	15.37:g.43473392_43473392dupT	ENSP00000260403:p.Phe499fs		Somatic				EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	p.CF498fs	NM_024956.3	NP_079232.3	WXS	Illumina GAIIx	Phase_I	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	13	1773_1774	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	498					Q6I9Y5|Q9H5J6	Frame_Shift_Ins	INS	ENST00000260403.2	37	c.1494_1495insT	CCDS32210.1																																																																																				0.327	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		10	481						10	481	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(367-369)cccfs	p.P123fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.P102fs|RP11-109D20.1_ENST00000560324.1_RNA	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	123					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGTGCCACGCCCCCCGATGA	0.53																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(364-369)acccccfs		sorbitol dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353365_45353366insC		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.372dupC	15.37:g.45353371_45353371dupC	ENSP00000267814:p.Pro123fs		Somatic				SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	p.TP122fs	NM_003104.5	NP_003095.2	WXS	Illumina GAIIx	Phase_I	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	546_547	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	122					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Frame_Shift_Ins	INS	ENST00000267814.9	37	c.366_367insC	CCDS10116.1																																																																																				0.530	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			25	991						25	991	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45444222	45444223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:45444222_45444223insG	ENST00000321429.4	+	25	3572_3573	c.3165_3166insG	c.(3166-3168)gggfs	p.G1056fs	DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.G1056fs|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.G702fs|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1056	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACGCCATCGCTGGGGGGCTTTT	0.604																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3163-3168)gcggggfs		dual oxidase 1																																				SO:0001589	frameshift_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45444222_45444223insG	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3171dupG	15.37:g.45444228_45444228dupG	ENSP00000317997:p.Gly1056fs		Somatic				DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.AG701fs|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.AG1055fs	p.AG1055fs	NM_017434.3	NP_059130.2	WXS	Illumina GAIIx	Phase_I	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	25	3572_3573	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1055			Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Frame_Shift_Ins	INS	ENST00000321429.4	37	c.3165_3166insG	CCDS32221.1																																																																																				0.604	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		9	209						9	209	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4566)ggccccfs	p.GP1521fs	DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.GP1521fs|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.GP1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545																																						ENST00000321429.4																			1	Insertion - Frameshift(1)	p.G1524fs*26(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4561-4563)gccfs		dual oxidase 1																																				SO:0001589	frameshift_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457005_45457006insC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4568dupC	15.37:g.45457011_45457011dupC	ENSP00000317997:p.Gly1521fs		Somatic				DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs	p.A1521fs	NM_017434.3	NP_059130.2	WXS	Illumina GAIIx	Phase_I	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	4969_4970	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1521					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Frame_Shift_Ins	INS	ENST00000321429.4	37	c.4562_4563insC	CCDS32221.1																																																																																				0.545	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		7	1202						7	1202	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)cccaacfs	p.N1149fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.49																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3442-3447)ccacctfs		protogenin																																				SO:0001589	frameshift_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55912218_55912219insG	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3445dupC	15.37:g.55912224_55912224dupG	ENSP00000373937:p.Asn1149fs		Somatic					p.P1149fs	NM_173814.4	NP_776175.2	WXS	Illumina GAIIx	Phase_I	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3491_3492	-			1149						Frame_Shift_Ins	INS	ENST00000389286.4	37	c.3444_3445insC	CCDS42040.1																																																																																				0.490	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		11	367						11	367	---	---	---	---
GTF2A2	2958	broad.mit.edu	37	15	59942953	59942954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:59942953_59942954insG	ENST00000396060.2	-	3	272_273	c.91_92insC	c.(91-93)caafs	p.Q31fs	GTF2A2_ENST00000396063.1_Frame_Shift_Ins_p.Q31fs|GTF2A2_ENST00000267869.4_Intron|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000396064.3_Frame_Shift_Ins_p.Q31fs|GTF2A2_ENST00000484743.1_Intron|GTF2A2_ENST00000396061.1_Frame_Shift_Ins_p.Q31fs	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	31					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						AAGGGCAAGTTGGGGGGTGATC	0.376																																						ENST00000396060.2																			0				central_nervous_system(2)|kidney(2)|lung(1)	5						c.(91-93)actfs		general transcription factor IIA, 2, 12kDa																																				SO:0001589	frameshift_variant	2958				interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr15:59942953_59942954insG	BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.92dupC	15.37:g.59942959_59942959dupG	ENSP00000379372:p.Gln31fs		Somatic				GTF2A2_ENST00000396061.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000396064.3_Frame_Shift_Ins_p.T31fs|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000484743.1_Intron|GTF2A2_ENST00000396063.1_Frame_Shift_Ins_p.T31fs	p.T31fs	NM_004492.2	NP_004483.1	WXS	Illumina GAIIx	Phase_I	P52657	T2AG_HUMAN			3	272_273	-			31					A8MYQ7|Q6FGB5	Frame_Shift_Ins	INS	ENST00000396060.2	37	c.91_92insC	CCDS10173.1																																																																																				0.376	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256067.2	NM_004492		7	178						7	178	---	---	---	---
PPIB	5479	broad.mit.edu	37	15	64454274	64454275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:64454274_64454275insT	ENST00000300026.3	-	2	432_433	c.214_215insA	c.(214-216)acafs	p.T72fs	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	72	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	ATTATCCACTGTTTTTGGAACA	0.465																																					GBM(105;399 1481 32889 33051 36637)	ENST00000300026.3																			0				kidney(2)|large_intestine(2)|lung(6)	10						c.(214-216)agtfs		peptidylprolyl isomerase B (cyclophilin B)	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	5479				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr15:64454274_64454275insT		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.215dupA	15.37:g.64454279_64454279dupT	ENSP00000300026:p.Thr72fs		Somatic				PPIB_ENST00000558492.1_Intron	p.S72fs	NM_000942.4	NP_000933.1	WXS	Illumina GAIIx	Phase_I	P23284	PPIB_HUMAN			2	432_433	-			72			PPIase cyclophilin-type.		A8K534|Q6IBH5|Q9BVK5	Frame_Shift_Ins	INS	ENST00000300026.3	37	c.214_215insA	CCDS10191.1																																																																																				0.465	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			7	1442						7	1442	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65489699	65489700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:65489699_65489700insC	ENST00000261883.4	-	9	3090_3091	c.2924_2925insG	c.(2923-2925)ggcfs	p.G975fs		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	975					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCGATGAGTGCCCCCCATGTT	0.569																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2923-2925)gacfs		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase																																				SO:0001589	frameshift_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489699_65489700insC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2925dupG	15.37:g.65489705_65489705dupC	ENSP00000261883:p.Gly975fs		Somatic					p.D975fs	NM_003613.3	NP_003604.3	WXS	Illumina GAIIx	Phase_I	O75339	CILP1_HUMAN			9	3090_3091	-			975					B2R8F7|Q6UW99|Q8IYI5	Frame_Shift_Ins	INS	ENST00000261883.4	37	c.2924_2925insG	CCDS10203.1																																																																																				0.569	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		11	796						11	796	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccacafs	p.T872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2611-2616)cccagafs		immunoglobulin superfamily, DCC subclass, member 4																																				SO:0001589	frameshift_variant	57722					integral to membrane|plasma membrane		g.chr15:65681239_65681240insG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2614dupC	15.37:g.65681246_65681246dupG	ENSP00000319623:p.Thr872fs		Somatic					p.R872fs	NM_020962.1	NP_066013.1	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			15	2822_2823	-			872			Fibronectin type-III 5.		Q9HCE4	Frame_Shift_Ins	INS	ENST00000352385.2	37	c.2613_2614insC	CCDS10206.1																																																																																				0.663	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		11	240						11	240	---	---	---	---
LCTL	197021	broad.mit.edu	37	15	66850185	66850186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:66850185_66850186insC	ENST00000341509.5	-	8	927_928	c.796_797insG	c.(796-798)gaafs	p.E266fs	LCTL_ENST00000537670.1_Frame_Shift_Ins_p.E93fs	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	266					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCACAGGTTCCCCCCAGTCA	0.525																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(796-798)accfs		lactase-like																																				SO:0001589	frameshift_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66850185_66850186insC	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.797dupG	15.37:g.66850191_66850191dupC	ENSP00000343490:p.Glu266fs		Somatic				LCTL_ENST00000537670.1_Frame_Shift_Ins_p.T93fs	p.T266fs	NM_207338.2	NP_997221.2	WXS	Illumina GAIIx	Phase_I	Q6UWM7	LCTL_HUMAN			8	927_928	-			266					B3KQY0	Frame_Shift_Ins	INS	ENST00000341509.5	37	c.796_797insG	CCDS10220.1																																																																																				0.525	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		9	376						9	376	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68617581	68617582	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:68617581_68617582insG	ENST00000315757.7	-	18	2298		c.e18-2		ITGA11_ENST00000423218.2_Splice_Site	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						AGCAGTGTCCTGGGGGGTGGAG	0.579																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.e18-2		integrin, alpha 11	Tirofiban(DB00775)																																			SO:0001630	splice_region_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68617581_68617582insG	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2212-2->C	15.37:g.68617587_68617587dupG			Somatic				ITGA11_ENST00000315757.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9UKX5	ITA11_HUMAN			18	2307	-								J3KQM2|Q8WYI8|Q9UKQ1	Splice_Site	INS	ENST00000315757.7	37		CCDS45291.1																																																																																				0.579	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	Intron	12	345						12	345	---	---	---	---
LARP6	55323	broad.mit.edu	37	15	71125256	71125257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:71125256_71125257insG	ENST00000299213.8	-	3	680_681	c.610_611insC	c.(610-612)cagfs	p.Q204fs	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	204	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATTCTTCTGGGGGGTGGCC	0.545																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(610-612)gaafs		La ribonucleoprotein domain family, member 6																																				SO:0001589	frameshift_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125256_71125257insG	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.611dupC	15.37:g.71125262_71125262dupG	ENSP00000299213:p.Gln204fs		Somatic					p.E204fs	NM_018357.2	NP_060827.2	WXS	Illumina GAIIx	Phase_I	Q9BRS8	LARP6_HUMAN			3	680_681	-			204					Q5XKE4|Q8N3N2|Q9NUR0	Frame_Shift_Ins	INS	ENST00000299213.8	37	c.610_611insC	CCDS32281.1																																																																																				0.545	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		7	684						7	684	---	---	---	---
STOML1	9399	broad.mit.edu	37	15	74281540	74281541	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:74281540_74281541insG	ENST00000316900.5	-	3	422_423	c.298_299insC	c.(298-300)cagfs	p.Q100fs	STOML1_ENST00000316911.6_Intron|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000561656.1_Frame_Shift_Ins_p.Q13fs|STOML1_ENST00000359750.4_Frame_Shift_Ins_p.Q100fs|STOML1_ENST00000541638.1_Frame_Shift_Ins_p.Q58fs	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	100						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCCAGGTCCCTGGGGGGTGCGG	0.584																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(298-300)gggfs		stomatin (EPB72)-like 1																																				SO:0001589	frameshift_variant	9399					integral to membrane	sterol binding	g.chr15:74281540_74281541insG	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.299dupC	15.37:g.74281546_74281546dupG	ENSP00000319323:p.Gln100fs		Somatic				STOML1_ENST00000359750.4_Frame_Shift_Ins_p.G100fs|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Frame_Shift_Ins_p.G58fs|STOML1_ENST00000561656.1_Frame_Shift_Ins_p.G13fs|STOML1_ENST00000316911.6_Intron	p.G100fs	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	WXS	Illumina GAIIx	Phase_I	Q9UBI4	STML1_HUMAN			3	422_423	-			100					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Frame_Shift_Ins	INS	ENST00000316900.5	37	c.298_299insC	CCDS10254.1																																																																																				0.584	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		11	263						11	263	---	---	---	---
MPI	4351	broad.mit.edu	37	15	75189523	75189524	+	Frame_Shift_Ins	INS	-	-	C	rs575144583	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:75189523_75189524insC	ENST00000352410.4	+	7	1083_1084	c.1016_1017insC	c.(1015-1020)gaccccfs	p.DP339fs	CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000323744.6_Frame_Shift_Ins_p.DP278fs|MPI_ENST00000535694.1_Frame_Shift_Ins_p.DP289fs|MPI_ENST00000563786.1_Frame_Shift_Ins_p.DP319fs|MPI_ENST00000566377.1_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	339					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCAATCTATGACCCCCCTGTAC	0.53																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1015-1017)gccfs		mannose phosphate isomerase																																				SO:0001589	frameshift_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75189523_75189524insC		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1022dupC	15.37:g.75189529_75189529dupC	ENSP00000318318:p.Asp339fs		Somatic				MPI_ENST00000323744.6_Frame_Shift_Ins_p.A278fs|MPI_ENST00000535694.1_Frame_Shift_Ins_p.A289fs|MPI_ENST00000566377.1_Intron|MPI_ENST00000563786.1_Frame_Shift_Ins_p.A319fs	p.A339fs			WXS	Illumina GAIIx	Phase_I	P34949	MPI_HUMAN			7	1083_1084	+			339					A8K8K9|Q96AB0	Frame_Shift_Ins	INS	ENST00000352410.4	37	c.1016_1017insC	CCDS10272.1																																																																																				0.530	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			9	679						9	679	---	---	---	---
SCAMP5	192683	broad.mit.edu	37	15	75311153	75311154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:75311153_75311154insG	ENST00000361900.6	+	8	744_745	c.537_538insG	c.(538-540)gggfs	p.G180fs	SCAMP5_ENST00000562212.1_Frame_Shift_Ins_p.G188fs|SCAMP5_ENST00000568081.1_Frame_Shift_Ins_p.G113fs|SCAMP5_ENST00000425597.3_Frame_Shift_Ins_p.G180fs|SCAMP5_ENST00000545456.1_Frame_Shift_Ins_p.G109fs	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	180					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACCGGGGAAGTGGGGGGAGTTT	0.53																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(535-540)agggggfs		secretory carrier membrane protein 5																																				SO:0001589	frameshift_variant	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75311153_75311154insG	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.543dupG	15.37:g.75311159_75311159dupG	ENSP00000355387:p.Gly180fs		Somatic				SCAMP5_ENST00000425597.3_Frame_Shift_Ins_p.RG179fs|SCAMP5_ENST00000568081.1_Frame_Shift_Ins_p.RG112fs|SCAMP5_ENST00000545456.1_Frame_Shift_Ins_p.RG108fs|SCAMP5_ENST00000562212.1_Frame_Shift_Ins_p.RG187fs	p.RG179fs	NM_001178111.1	NP_001171582.1	WXS	Illumina GAIIx	Phase_I	Q8TAC9	SCAM5_HUMAN			8	744_745	+			179					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Frame_Shift_Ins	INS	ENST00000361900.6	37	c.537_538insG	CCDS45306.1																																																																																				0.530	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		11	305						11	305	---	---	---	---
SNX33	257364	broad.mit.edu	37	15	75942735	75942736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:75942735_75942736insC	ENST00000308527.5	+	1	2489_2490	c.1292_1293insC	c.(1291-1296)gaccccfs	p.DP431fs	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	431	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTCCAGATGGACCCCCCCTTTT	0.569																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1291-1293)gccfs		sorting nexin 33																																				SO:0001589	frameshift_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942735_75942736insC	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1299dupC	15.37:g.75942742_75942742dupC	ENSP00000311427:p.Asp431fs		Somatic					p.A431fs	NM_153271.1	NP_695003.1	WXS	Illumina GAIIx	Phase_I	Q8WV41	SNX33_HUMAN			1	2489_2490	+			431			BAR.		B1NM17	Frame_Shift_Ins	INS	ENST00000308527.5	37	c.1292_1293insC	CCDS10283.1																																																																																				0.569	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		7	205						7	205	---	---	---	---
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	lincRNA	INS	-	-	G	rs528488597	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.49																																						ENST00000560533.1																			0																																																			729911							g.chr15:79529452_79529453insG																													15.37:g.79529458_79529458dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	349	-									RNA	INS	ENST00000560533.1	37																																																																																						0.490	RP11-17L5.4-007	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417804.1			8	739						8	739	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84592709	84592710	+	Frame_Shift_Ins	INS	-	-	AGCT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:84592709_84592710insAGCT	ENST00000286744.5	+	17	2265_2266	c.2041_2042insAGCT	c.(2041-2043)aatfs	p.N681fs	ADAMTSL3_ENST00000567476.1_Frame_Shift_Ins_p.N681fs	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	681						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAGACAGTCAATGACAGCTTG	0.49																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2041-2043)tgafs		ADAMTS-like 3																																				SO:0001589	frameshift_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84592709_84592710insAGCT	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	Exception_encountered	15.37:g.84592709_84592710insAGCT	ENSP00000286744:p.Asn681fs		Somatic				ADAMTSL3_ENST00000567476.1_Frame_Shift_Ins_p.*681fs	p.*681fs	NM_207517.2	NP_997400.2	WXS	Illumina GAIIx	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		17	2265_2266	+			681					A1A566|A1A567|Q9ULI7	Frame_Shift_Ins	INS	ENST00000286744.5	37	c.2041_2042insAGCT	CCDS10326.1																																																																																				0.490	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		7	390						7	390	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90167669	90167670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90167669_90167670insC	ENST00000268138.7	+	20	4233_4234	c.4128_4129insC	c.(4129-4131)cccfs	p.P1377fs	TICRR_ENST00000560985.1_Frame_Shift_Ins_p.P1376fs|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1377	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCCTCCTCCACCCCCTTCTAA	0.574																																						ENST00000268138.7																			0											c.(4126-4131)ccccccfs		TOPBP1-interacting checkpoint and replication regulator																																				SO:0001589	frameshift_variant	90381							g.chr15:90167669_90167670insC	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4133dupC	15.37:g.90167674_90167674dupC	ENSP00000268138:p.Pro1377fs		Somatic				KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Frame_Shift_Ins_p.PP1375fs	p.PP1376fs			WXS	Illumina GAIIx	Phase_I					20	4233_4234	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Frame_Shift_Ins	INS	ENST00000268138.7	37	c.4128_4129insC	CCDS10352.2																																																																																				0.574	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		7	326						7	326	---	---	---	---
TTLL13	440307	broad.mit.edu	37	15	90799090	90799091	+	Frame_Shift_Ins	INS	-	-	C	rs369610592		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90799090_90799091insC	ENST00000339615.5	+	5	811_812	c.521_522insC	c.(520-525)ttccccfs	p.FP174fs	TTLL13_ENST00000438251.1_Frame_Shift_Ins_p.FP174fs|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TACAACATCTTCCCCCGCACCT	0.559																																						ENST00000438251.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16						c.(520-522)tccfs		tubulin tyrosine ligase-like family, member 13																																				SO:0001589	frameshift_variant	440307				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90799090_90799091insC	BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.526dupC	15.37:g.90799095_90799095dupC	ENSP00000345294:p.Phe174fs		Somatic				TTLL13_ENST00000339615.5_Frame_Shift_Ins_p.S174fs|RP11-697E2.6_ENST00000561573.1_Intron	p.S174fs			WXS	Illumina GAIIx	Phase_I	A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		5	811_812	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		174			TTL.			Frame_Shift_Ins	INS	ENST00000339615.5	37	c.521_522insC	CCDS32328.1																																																																																				0.559	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1	NM_001029964		9	1809						9	1809	---	---	---	---
TTLL13	440307	broad.mit.edu	37	15	90801328	90801329	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90801328_90801329insG	ENST00000339615.5	+	9	1284_1285	c.994_995insG	c.(994-996)tggfs	p.W332fs	TTLL13_ENST00000438251.1_Frame_Shift_Ins_p.W332fs|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGGAGAGCTGTGGGGGGACATC	0.535																																						ENST00000438251.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16						c.(994-996)gggfs		tubulin tyrosine ligase-like family, member 13																																				SO:0001589	frameshift_variant	440307				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90801328_90801329insG	BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1000dupG	15.37:g.90801334_90801334dupG	ENSP00000345294:p.Trp332fs		Somatic				TTLL13_ENST00000339615.5_Frame_Shift_Ins_p.G332fs|RP11-697E2.6_ENST00000561573.1_Intron	p.G332fs			WXS	Illumina GAIIx	Phase_I	A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		9	1284_1285	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		332			TTL.			Frame_Shift_Ins	INS	ENST00000339615.5	37	c.994_995insG	CCDS32328.1																																																																																				0.535	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1	NM_001029964		17	1127						17	1127	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91544628	91544629	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:91544628_91544629insT	ENST00000333371.3	-	19	1822_1823	c.1469_1470insA	c.(1468-1470)aagfs	p.K490fs	VPS33B_ENST00000535906.1_Frame_Shift_Ins_p.K463fs|VPS33B_ENST00000535843.1_Frame_Shift_Ins_p.K399fs	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	490					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCAAATTCAGCTTTTTGCTGAT	0.416																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(1468-1470)actfs		vacuolar protein sorting 33 homolog B (yeast)																																				SO:0001589	frameshift_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91544628_91544629insT	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1470dupA	15.37:g.91544633_91544633dupT	ENSP00000327650:p.Lys490fs		Somatic				VPS33B_ENST00000535843.1_Frame_Shift_Ins_p.T399fs|VPS33B_ENST00000535906.1_Frame_Shift_Ins_p.T463fs	p.T490fs	NM_018668.3	NP_061138.3	WXS	Illumina GAIIx	Phase_I	Q9H267	VP33B_HUMAN			19	1822_1823	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		490					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Frame_Shift_Ins	INS	ENST00000333371.3	37	c.1469_1470insA	CCDS10369.1																																																																																				0.416	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		7	605						7	605	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		18	399						18	399	---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101438349	101438350	+	Frame_Shift_Ins	INS	-	-	G	rs142377552	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:101438349_101438350insG	ENST00000329841.5	+	8	1374_1375	c.842_843insG	c.(841-846)ctggggfs	p.LG281fs	ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.LG174fs|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACGCTGGAGCTGGGGGGGAAGA	0.569																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(841-843)cggfs		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101438349_101438350insG	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.849dupG	15.37:g.101438356_101438356dupG	ENSP00000332256:p.Leu281fs		Somatic				RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs	p.R281fs	NM_000693.2	NP_000684.2	WXS	Illumina GAIIx	Phase_I	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	1374_1375	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		281					Q6NT64	Frame_Shift_Ins	INS	ENST00000329841.5	37	c.842_843insG	CCDS10389.1																																																																																				0.569	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			10	169						10	169	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)gggcctfs	p.P223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(664-669)ggctggfs		chondroitin sulfate synthase 1																																				SO:0001589	frameshift_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775436_101775437insC	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.667dupG	15.37:g.101775443_101775443dupC	ENSP00000254190:p.Pro223fs		Somatic					p.W223fs	NM_014918.4	NP_055733.2	WXS	Illumina GAIIx	Phase_I	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	1141_1142	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		223					Q6UX38|Q7LFU5|Q9Y2J5	Frame_Shift_Ins	INS	ENST00000254190.3	37	c.666_667insG	CCDS10390.1																																																																																				0.614	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		14	312						14	312	---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3100449	3100450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:3100449_3100450insG	ENST00000336577.4	+	4	800_801	c.563_564insG	c.(562-567)ttggggfs	p.LG188fs	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	201					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TTCGACGGGTTGGGGGGCACCC	0.604																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(562-564)tggfs		matrix metallopeptidase 25																																				SO:0001589	frameshift_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100449_3100450insG	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.569dupG	16.37:g.3100455_3100455dupG	ENSP00000337816:p.Leu188fs		Somatic				MMP25_ENST00000570755.1_3'UTR	p.W188fs	NM_022468.4	NP_071913.1	WXS	Illumina GAIIx	Phase_I	Q9NPA2	MMP25_HUMAN			4	800_801	+			188					Q96F04|Q96TE2	Frame_Shift_Ins	INS	ENST00000336577.4	37	c.563_564insG	CCDS10492.1																																																																																				0.604	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		12	270						12	270	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3828056	3828057	+	Frame_Shift_Ins	INS	-	-	C	rs531539047	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:3828056_3828057insC	ENST00000262367.5	-	10	2877_2878	c.2068_2069insG	c.(2068-2070)gctfs	p.A690fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.A652fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	690					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGGGCTGAGCCCCCGGGGCT	0.485			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2068-2070)tcafs		CREB binding protein																																				SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828056_3828057insC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2069dupG	16.37:g.3828061_3828061dupC	ENSP00000262367:p.Ala690fs		Somatic				CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.S652fs	p.S690fs	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	10	2877_2878	-		Ovarian(90;0.0266)	690					D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Ins	INS	ENST00000262367.5	37	c.2068_2069insG	CCDS10509.1																																																																																				0.485	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		8	318						8	318	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4407245	4407246	+	Frame_Shift_Ins	INS	-	-	G	rs145777624|rs138689319	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:4407245_4407246insG	ENST00000251166.4	-	26	2753_2754	c.2608_2609insC	c.(2608-2610)cgafs	p.R870fs	CORO7_ENST00000539968.1_Frame_Shift_Ins_p.R650fs|CORO7_ENST00000537233.2_Frame_Shift_Ins_p.R852fs|CORO7-PAM16_ENST00000572467.1_Frame_Shift_Ins_p.R870fs|CORO7_ENST00000574025.1_Frame_Shift_Ins_p.R785fs|CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000576217.1_5'Flank	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	870					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGGGGCCTCTCGGGGGGCTTGG	0.579																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2608-2610)agafs		coronin 7																																				SO:0001589	frameshift_variant	79585							g.chr16:4407245_4407246insG	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2609dupC	16.37:g.4407251_4407251dupG	ENSP00000251166:p.Arg870fs		Somatic				CORO7_ENST00000574025.1_Frame_Shift_Ins_p.R785fs|CORO7-PAM16_ENST00000572467.1_Frame_Shift_Ins_p.R870fs|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Frame_Shift_Ins_p.R650fs|CORO7_ENST00000537233.2_Frame_Shift_Ins_p.R852fs	p.R870fs	NM_024535.4	NP_078811.3	WXS	Illumina GAIIx	Phase_I					26	2753_2754	-								B4DFD6|B4DL18|I3L416|Q17RK4	Frame_Shift_Ins	INS	ENST00000251166.4	37	c.2608_2609insC	CCDS10513.1																																																																																				0.579	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		8	246						8	246	---	---	---	---
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)tttgcafs	p.A36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.A36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441																																					GBM(158;2021 2691 14714 39478)	ENST00000359543.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(103-108)ttcagafs		epithelial membrane protein 2																																				SO:0001589	frameshift_variant	2013				cell proliferation	integral to membrane		g.chr16:10637490_10637491insA	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.106dupT	16.37:g.10637496_10637496dupA	ENSP00000352540:p.Ala36fs		Somatic				EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	p.R36fs	NM_001424.4	NP_001415.1	WXS	Illumina GAIIx	Phase_I	P54851	EMP2_HUMAN			3	314_315	-			36					B2R7V6|D3DUF8	Frame_Shift_Ins	INS	ENST00000359543.3	37	c.105_106insT	CCDS10541.1																																																																																				0.441	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		12	856						12	856	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11220012	11220013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:11220012_11220013insC	ENST00000409552.3	+	21	2733_2734	c.2596_2597insC	c.(2596-2598)gccfs	p.A866fs	CLEC16A_ENST00000409790.1_Intron|CLEC16A_ENST00000381822.2_Intron	NM_001243403.1	NP_001230332.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGTGAGCCAGCCCCCCGCCCT	0.649																																						ENST00000409552.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2596-2598)cccfs		C-type lectin domain family 16, member A																																				SO:0001589	frameshift_variant	23274							g.chr16:11220012_11220013insC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409552.3:c.2602dupC	16.37:g.11220018_11220018dupC	ENSP00000386495:p.Ala866fs		Somatic				CLEC16A_ENST00000409790.1_Intron|CLEC16A_ENST00000381822.2_Intron	p.P866fs	NM_001243403.1	NP_001230332.1	WXS	Illumina GAIIx	Phase_I	Q2KHT3	CL16A_HUMAN			21	2733_2734	+			0						Frame_Shift_Ins	INS	ENST00000409552.3	37	c.2596_2597insC	CCDS58423.1																																																																																				0.649	CLEC16A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328542.1	NM_015226		7	314						7	314	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14346299	14346300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:14346299_14346300insC	ENST00000341243.5	+	13	2610_2611	c.2610_2611insC	c.(2611-2613)cccfs	p.P871fs	MKL2_ENST00000574045.1_Frame_Shift_Ins_p.P832fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.P832fs|MKL2_ENST00000571589.1_Frame_Shift_Ins_p.P882fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	871					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2641-2646)gaccccfs		MKL/myocardin-like 2				2,4262		0,2,2130						1.0	1.0			79	5,8247		0,5,4121	no	frameshift	MKL2	NM_014048.3		0,7,6251	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12509				SO:0001589	frameshift_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14346299_14346300insC	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2617dupC	16.37:g.14346306_14346306dupC	ENSP00000345841:p.Pro871fs		Somatic				MKL2_ENST00000341243.5_Frame_Shift_Ins_p.DP870fs|MKL2_ENST00000574045.1_Frame_Shift_Ins_p.DP831fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.DP831fs	p.DP881fs	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	Q9ULH7	MKL2_HUMAN			15	2815_2816	+			870					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Ins	INS	ENST00000341243.5	37	c.2643_2644insC																																																																																					0.564	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		10	182						10	182	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			32	3326						32	3326	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16142119	16142120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:16142119_16142120insC	ENST00000399410.3	+	10	1514_1515	c.1339_1340insC	c.(1339-1341)gccfs	p.A447fs	ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000399408.2_Frame_Shift_Ins_p.A447fs	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	447	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GATCTGGTCAGCCCCCCTGCAA	0.545																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1339-1341)cccfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)																																			SO:0001589	frameshift_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16142119_16142120insC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1345dupC	16.37:g.16142125_16142125dupC	ENSP00000382342:p.Ala447fs		Somatic				ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs	p.P447fs			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			10	1514_1515	+			447			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Frame_Shift_Ins	INS	ENST00000399410.3	37	c.1339_1340insC	CCDS42122.1																																																																																				0.545	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		8	827						8	827	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19644487	19644488	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:19644487_19644488insC	ENST00000251143.5	+	19	1640_1641	c.1628_1629insC	c.(1627-1632)taccccfs	p.YP543fs	C16orf62_ENST00000448695.1_Frame_Shift_Ins_p.YP393fs|C16orf62_ENST00000543152.1_Frame_Shift_Ins_p.YP292fs|C16orf62_ENST00000542263.1_Frame_Shift_Ins_p.YP565fs|C16orf62_ENST00000438132.3_Frame_Shift_Ins_p.YP632fs|C16orf62_ENST00000417362.2_Frame_Shift_Ins_p.YP476fs			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	543						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAAGATTCCTACCCCCAGGTAA	0.411																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1894-1896)tccfs		chromosome 16 open reading frame 62																																				SO:0001589	frameshift_variant	57020					integral to membrane		g.chr16:19644487_19644488insC		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1633dupC	16.37:g.19644492_19644492dupC	ENSP00000251143:p.Tyr543fs		Somatic				C16orf62_ENST00000543152.1_Frame_Shift_Ins_p.S292fs|C16orf62_ENST00000542263.1_Frame_Shift_Ins_p.S565fs|C16orf62_ENST00000448695.1_Frame_Shift_Ins_p.S393fs|C16orf62_ENST00000251143.5_Frame_Shift_Ins_p.S543fs|C16orf62_ENST00000417362.2_Frame_Shift_Ins_p.S476fs	p.S632fs	NM_020314.5	NP_064710.4	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			19	1943_1944	+			543					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Frame_Shift_Ins	INS	ENST00000251143.5	37	c.1895_1896insC																																																																																					0.411	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		12	2278						12	2278	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs		Somatic				ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs	p.H405fs	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		21	685						21	685	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786|rs201055598		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:23718095_23718096insG	ENST00000457008.2	-	6	504_505	c.466_467insC	c.(466-468)cgcfs	p.R156fs	ERN2_ENST00000256797.4_Frame_Shift_Ins_p.R204fs					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(610-612)cctfs		endoplasmic reticulum to nucleus signaling 2				47,4201		1,45,2078						-0.1	0.8			55	97,8145		0,97,4024	no	frameshift	ERN2	NM_033266.3		1,142,6102	A1A1,A1R,RR		1.1769,1.1064,1.1529				144,12346				SO:0001589	frameshift_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718095_23718096insG	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.467dupC	16.37:g.23718101_23718101dupG	ENSP00000413812:p.Arg156fs		Somatic				ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	p.P204fs	NM_033266.3	NP_150296.3	WXS	Illumina GAIIx	Phase_I	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	778_779	-			156						Frame_Shift_Ins	INS	ENST00000457008.2	37	c.610_611insC																																																																																					0.604	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			9	603						9	603	---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28883207	28883208	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28883207_28883208insC	ENST00000322610.8	+	8	1855_1856	c.1416_1417insC	c.(1417-1419)cccfs	p.P473fs	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Frame_Shift_Ins_p.P137fs|SH2B1_ENST00000337120.5_Frame_Shift_Ins_p.P473fs|SH2B1_ENST00000359285.5_Frame_Shift_Ins_p.P473fs|SH2B1_ENST00000545570.1_Frame_Shift_Ins_p.P163fs|SH2B1_ENST00000395532.4_Frame_Shift_Ins_p.P473fs			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	473	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCAGAGTTGCCCCCCCGCAT	0.629																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1414-1419)ttccccfs		SH2B adaptor protein 1																																				SO:0001589	frameshift_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883207_28883208insC	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1423dupC	16.37:g.28883214_28883214dupC	ENSP00000321221:p.Pro473fs		Somatic				SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Frame_Shift_Ins_p.FP136fs|SH2B1_ENST00000545570.1_Frame_Shift_Ins_p.FP162fs|SH2B1_ENST00000359285.5_Frame_Shift_Ins_p.FP472fs|SH2B1_ENST00000322610.8_Frame_Shift_Ins_p.FP472fs|SH2B1_ENST00000395532.4_Frame_Shift_Ins_p.FP472fs	p.FP472fs	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	WXS	Illumina GAIIx	Phase_I	Q9NRF2	SH2B1_HUMAN			5	4707_4708	+			472			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Frame_Shift_Ins	INS	ENST00000322610.8	37	c.1416_1417insC	CCDS53996.1																																																																																				0.629	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		26	343						26	343	---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28883306	28883306	+	Splice_Site	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28883306delT	ENST00000322610.8	+	8	1952		c.e8+2		SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Splice_Site|SH2B1_ENST00000337120.5_Splice_Site|SH2B1_ENST00000359285.5_Splice_Site|SH2B1_ENST00000545570.1_Splice_Site|SH2B1_ENST00000395532.4_Splice_Site			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CAGCCACAGGTACCGGAGGTG	0.647																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.e5+2		SH2B adaptor protein 1							35.0	33.0	34.0					16																	28883306		2197	4300	6497	SO:0001630	splice_region_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883306delT	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1513+2T>-	16.37:g.28883306delT			Somatic				SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Splice_Site|SH2B1_ENST00000545570.1_Splice_Site|SH2B1_ENST00000359285.5_Splice_Site|SH2B1_ENST00000322610.8_Splice_Site|SH2B1_ENST00000395532.4_Splice_Site		NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	WXS	Illumina GAIIx	Phase_I	Q9NRF2	SH2B1_HUMAN			5	4804	+								A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Splice_Site	DEL	ENST00000322610.8	37		CCDS53996.1																																																																																				0.647	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	Intron	71	94						71	94	---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28909713	28909714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28909713_28909714insC	ENST00000357084.3	+	14	1972_1973	c.1705_1706insC	c.(1705-1707)accfs	p.T569fs	ATP2A1_ENST00000395503.4_Frame_Shift_Ins_p.T569fs|ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.T444fs	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	569					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CACCCGGGACACCCCCCCGAAG	0.639																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1705-1707)cccfs		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1																																				SO:0001589	frameshift_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909713_28909714insC		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1712dupC	16.37:g.28909720_28909720dupC	ENSP00000349595:p.Thr569fs		Somatic				ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.P444fs|ATP2A1_ENST00000357084.3_Frame_Shift_Ins_p.P569fs	p.P569fs	NM_004320.4	NP_004311.1	WXS	Illumina GAIIx	Phase_I	O14983	AT2A1_HUMAN			14	1889_1890	+			569					A8K5J9|B3KY17|O14984	Frame_Shift_Ins	INS	ENST00000357084.3	37	c.1705_1706insC	CCDS10643.1																																																																																				0.639	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		42	550						42	550	---	---	---	---
CTB-134H23.2	0	broad.mit.edu	37	16	29061994	29061995	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29061994_29061995insC	ENST00000424293.3	+	6	661_662	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs																								CTTTTTCAGATCCCCCCTTCTG	0.45																																						ENST00000424293.3																			0											c.e6-1																																						SO:0001630	splice_region_variant	0							g.chr16:29061994_29061995insC																												ENST00000424293.3:c.607-1->C	16.37:g.29062000_29062000dupC			Somatic					p.T203_splice			WXS	Illumina GAIIx	Phase_I					6	661_662	+									Splice_Site	INS	ENST00000424293.3	37	c.606_splice																																																																																					0.450	CTB-134H23.2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409230.1		Frame_Shift_Ins	7	197						7	197	---	---	---	---
MVP	9961	broad.mit.edu	37	16	29842209	29842210	+	Frame_Shift_Ins	INS	-	-	C	rs200811624		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29842209_29842210insC	ENST00000357402.5	+	3	274_275	c.136_137insC	c.(136-138)gccfs	p.A46fs	MVP_ENST00000395353.1_Frame_Shift_Ins_p.A46fs|MVP_ENST00000452209.2_Intron|MVP_ENST00000566554.1_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	46					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGTACTGTTTGCCCCCATGCGC	0.574																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(136-138)cccfs		major vault protein																																				SO:0001589	frameshift_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29842209_29842210insC	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.141dupC	16.37:g.29842214_29842214dupC	ENSP00000349977:p.Ala46fs		Somatic				MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Frame_Shift_Ins_p.P46fs|MVP_ENST00000566554.1_3'UTR	p.P46fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	WXS	Illumina GAIIx	Phase_I	Q14764	MVP_HUMAN			3	274_275	+			46					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Frame_Shift_Ins	INS	ENST00000357402.5	37	c.136_137insC	CCDS10656.1																																																																																				0.574	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		7	319						7	319	---	---	---	---
MVP	9961	broad.mit.edu	37	16	29855917	29855918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29855917_29855918insG	ENST00000357402.5	+	11	1876_1877	c.1738_1739insG	c.(1738-1740)cggfs	p.R580fs	MVP_ENST00000395353.1_Frame_Shift_Ins_p.R580fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	580					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						ATCCCGGGTGCGGGGGGCCGTG	0.569																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1738-1740)gggfs		major vault protein																																				SO:0001589	frameshift_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855917_29855918insG	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1744dupG	16.37:g.29855923_29855923dupG	ENSP00000349977:p.Arg580fs		Somatic				MVP_ENST00000395353.1_Frame_Shift_Ins_p.G580fs	p.G580fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	WXS	Illumina GAIIx	Phase_I	Q14764	MVP_HUMAN			11	1876_1877	+			580					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Frame_Shift_Ins	INS	ENST00000357402.5	37	c.1738_1739insG	CCDS10656.1																																																																																				0.569	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		9	380						9	380	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)cccaatfs	p.N504fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.N434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.N390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1507-1512)ccatgcfs		seizure related 6 homolog (mouse)-like 2																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs		Somatic				SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	p.C504fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	WXS	Illumina GAIIx	Phase_I	Q6UXD5	SE6L2_HUMAN			9	2036_2037	-			504			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	ENST00000308713.5	37	c.1509_1510insC	CCDS10659.1																																																																																				0.604	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		33	2279						33	2279	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29997842	29997843	+	Frame_Shift_Ins	INS	-	-	C	rs74627491		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29997842_29997843insC	ENST00000308893.4	+	16	3292_3293	c.2249_2250insC	c.(2248-2253)cgccccfs	p.RP750fs	TAOK2_ENST00000416441.2_Frame_Shift_Ins_p.RP577fs|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	750					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGGCCAGCGCCCCCCGGGCC	0.653																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2248-2250)cccfs		TAO kinase 2																																				SO:0001589	frameshift_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997842_29997843insC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2255dupC	16.37:g.29997848_29997848dupC	ENSP00000310094:p.Arg750fs		Somatic				TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000416441.2_Frame_Shift_Ins_p.P577fs|TAOK2_ENST00000279394.3_Intron	p.P750fs	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	WXS	Illumina GAIIx	Phase_I	Q9UL54	TAOK2_HUMAN			16	3292_3293	+			750					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Frame_Shift_Ins	INS	ENST00000308893.4	37	c.2249_2250insC	CCDS10663.1																																																																																				0.653	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		14	340						14	340	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30389139	30389140	+	IGR	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:30389139_30389140insC	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Frame_Shift_Ins_p.FP143fs			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TGGGCGGCCTTCCCCCCCGACG	0.673																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(427-429)tccfs		myosin light chain, phosphorylatable, fast skeletal muscle																																				SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30389139_30389140insC	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30389146_30389146dupC			Somatic					p.S143fs	NM_013292.3	NP_037424.2	WXS	Illumina GAIIx	Phase_I	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		7	509_510	+			143			EF-hand 3.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Frame_Shift_Ins	INS	ENST00000571393.1	37	c.428_429insC																																																																																					0.673	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		11	213						11	213	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31150534	31150535	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:31150534_31150535insG	ENST00000268281.4	-	15	2550_2551	c.2492_2493insC	c.(2491-2493)ccafs	p.P831fs	PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.P826fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.P728fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	831						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCCAGTTCTGGGGGGCAGAG	0.639																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(2491-2493)cgafs		protease, serine, 36																																				SO:0001589	frameshift_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31150534_31150535insG	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2493dupC	16.37:g.31150540_31150540dupG	ENSP00000268281:p.Pro831fs		Somatic				PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.R826fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.R728fs	p.R831fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	WXS	Illumina GAIIx	Phase_I	Q5K4E3	POLS2_HUMAN			15	2550_2551	-			831					A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Ins	INS	ENST00000268281.4	37	c.2492_2493insC	CCDS32436.1																																																																																				0.639	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		7	225						7	225	---	---	---	---
PYDC1	260434	broad.mit.edu	37	16	31230628	31230629	+	5'Flank	INS	-	-	G	rs148214926	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:31230628_31230629insG	ENST00000302964.3	-	0	0				PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Frame_Shift_Ins_p.R169fs	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCGTCAGTTCCGGGGGGCCGTG	0.658																																						ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(505-507)gggfs		tripartite motif containing 72																																				SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230628_31230629insG		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230634_31230634dupG	Exception_encountered		Somatic					p.G169fs	NM_001008274.3	NP_001008275.2	WXS	Illumina GAIIx	Phase_I	Q6ZMU5	TRI72_HUMAN			4	789_790	+			169					B2R8L4|Q8NFP8	Frame_Shift_Ins	INS	ENST00000302964.3	37	c.505_506insG	CCDS10710.1																																																																																				0.658	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		8	358						8	358	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31426253	31426254	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:31426253_31426254insC	ENST00000389202.2	+	18	2273_2274	c.2224_2225insC	c.(2224-2226)tccfs	p.S742fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	742					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCCATCCCCTCCCCCCAGAAC	0.545																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2224-2226)cccfs		integrin, alpha D																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31426253_31426254insC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2230dupC	16.37:g.31426259_31426259dupC	ENSP00000373854:p.Ser742fs		Somatic					p.P742fs	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			18	2273_2274	+			742					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.2224_2225insC	CCDS32438.1																																																																																				0.545	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	441						7	441	---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46956243	46956244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:46956243_46956244insC	ENST00000340124.4	+	9	1239_1240	c.1127_1128insC	c.(1126-1131)tgccccfs	p.CP376fs	GPT2_ENST00000440783.2_Frame_Shift_Ins_p.CP276fs	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	376					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GTGCGCCTGTGCCCCCCAGTGT	0.609																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(826-828)tccfs		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46956243_46956244insC		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1133dupC	16.37:g.46956249_46956249dupC	ENSP00000345282:p.Cys376fs		Somatic				GPT2_ENST00000340124.4_Frame_Shift_Ins_p.S376fs	p.S276fs	NM_001142466.1	NP_001135938.1	WXS	Illumina GAIIx	Phase_I	Q8TD30	ALAT2_HUMAN			9	1492_1493	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	376					Q8N9E2	Frame_Shift_Ins	INS	ENST00000340124.4	37	c.827_828insC	CCDS10725.1																																																																																				0.609	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			11	1176						11	1176	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48261861	48261862	+	Frame_Shift_Ins	INS	-	-	G	rs372557069		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:48261861_48261862insG	ENST00000394747.1	-	3	599_600	c.250_251insC	c.(250-252)cagfs	p.Q84fs	ABCC11_ENST00000537808.1_Frame_Shift_Ins_p.Q84fs|ABCC11_ENST00000353782.5_Frame_Shift_Ins_p.Q84fs|ABCC11_ENST00000356608.2_Frame_Shift_Ins_p.Q84fs|ABCC11_ENST00000394748.1_Frame_Shift_Ins_p.Q84fs	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	84					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTCCAGGGGCTGGGGGGCAGGA	0.495																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(250-252)gccfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 11																																				SO:0001589	frameshift_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48261861_48261862insG	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.251dupC	16.37:g.48261867_48261867dupG	ENSP00000378230:p.Gln84fs		Somatic				ABCC11_ENST00000537808.1_Frame_Shift_Ins_p.A84fs|ABCC11_ENST00000394748.1_Frame_Shift_Ins_p.A84fs|ABCC11_ENST00000356608.2_Frame_Shift_Ins_p.A84fs|ABCC11_ENST00000353782.5_Frame_Shift_Ins_p.A84fs	p.A84fs	NM_033151.3	NP_149163.2	WXS	Illumina GAIIx	Phase_I	Q96J66	ABCCB_HUMAN			3	599_600	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	84					Q8TDJ0|Q96JA6|Q9BX80	Frame_Shift_Ins	INS	ENST00000394747.1	37	c.250_251insC	CCDS10732.1																																																																																				0.495	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	770						8	770	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55857568	55857569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:55857568_55857569insC	ENST00000361503.4	-	4	559_560	c.429_430insG	c.(427-432)gggctgfs	p.L144fs	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Frame_Shift_Ins_p.L145fs|CES1_ENST00000422046.2_Frame_Shift_Ins_p.L144fs			P23141	EST1_HUMAN	carboxylesterase 1	144					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CCCACCATCAGCCCCCCTCCGT	0.559																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(427-432)ggtgatfs		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)																																			SO:0001589	frameshift_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55857568_55857569insC	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.430dupG	16.37:g.55857574_55857574dupC	ENSP00000355193:p.Leu144fs		Somatic				CES1_ENST00000360526.3_Frame_Shift_Ins_p.D145fs|CES1_ENST00000361503.4_Frame_Shift_Ins_p.D144fs|CES1_ENST00000566555.1_5'UTR	p.D144fs			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	4	710_711	-			144					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Frame_Shift_Ins	INS	ENST00000361503.4	37	c.429_430insG	CCDS45488.1																																																																																				0.559	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		7	944						7	944	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs		Somatic					p.S38fs	NM_032935.2	NP_116324.1	WXS	Illumina GAIIx	Phase_I	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		41	1546						41	1546	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57717983	57717984	+	Frame_Shift_Ins	INS	-	-	G	rs148644149		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:57717983_57717984insG	ENST00000333493.4	+	9	1182_1183	c.1021_1022insG	c.(1021-1023)cggfs	p.R341fs	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Frame_Shift_Ins_p.R221fs|GPR97_ENST00000327655.6_Frame_Shift_Ins_p.R131fs	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	341					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCTGGGCCCGGGGGGCTGTC	0.604																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1021-1023)gggfs		G protein-coupled receptor 97																																				SO:0001589	frameshift_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57717983_57717984insG	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1027dupG	16.37:g.57717989_57717989dupG	ENSP00000332900:p.Arg341fs		Somatic				GPR97_ENST00000450388.3_Frame_Shift_Ins_p.G221fs|GPR97_ENST00000327655.6_Frame_Shift_Ins_p.G131fs|RP11-405F3.4_ENST00000563062.1_RNA	p.G341fs	NM_170776.4	NP_740746.4	WXS	Illumina GAIIx	Phase_I	Q86Y34	GPR97_HUMAN			9	1182_1183	+			341					Q6ZMF4|Q86SL9|Q8IZF1	Frame_Shift_Ins	INS	ENST00000333493.4	37	c.1021_1022insG	CCDS10786.1																																																																																				0.604	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		12	215						12	215	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57938727	57938728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:57938727_57938728insC	ENST00000251102.8	-	26	2604_2605	c.2544_2545insG	c.(2542-2547)gggctgfs	p.L849fs	CNGB1_ENST00000564448.1_Frame_Shift_Ins_p.L843fs	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	849					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCAGGCAGCCCCCCGATGG	0.51																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2524-2529)ggtgccfs		cyclic nucleotide gated channel beta 1				0,3628		0,0,1814						5.1	1.0			103	1,7895		0,1,3947	no	frameshift	CNGB1	NM_001297.4		0,1,5761	A1A1,A1R,RR		0.0127,0.0,0.0087				1,11523				SO:0001589	frameshift_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938727_57938728insC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2545dupG	16.37:g.57938733_57938733dupC	ENSP00000251102:p.Leu849fs		Somatic				CNGB1_ENST00000251102.8_Frame_Shift_Ins_p.A849fs	p.A843fs			WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			26	2586_2587	-			849					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Frame_Shift_Ins	INS	ENST00000251102.8	37	c.2526_2527insG	CCDS42169.1																																																																																				0.510	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		11	325						11	325	---	---	---	---
SLC38A7	55238	broad.mit.edu	37	16	58713788	58713789	+	Frame_Shift_Ins	INS	-	-	C	rs373479233		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:58713788_58713789insC	ENST00000570101.1	-	2	1125_1126	c.242_243insG	c.(241-243)ggcfs	p.G81fs	SLC38A7_ENST00000564391.1_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000219320.4_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564100.1_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	81					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGCTGCCACGCCCCCCGCAGT	0.624																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(241-243)ggtfs		solute carrier family 38, member 7																																				SO:0001589	frameshift_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58713788_58713789insC	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.243dupG	16.37:g.58713794_58713794dupC	ENSP00000454646:p.Gly81fs		Somatic				SLC38A7_ENST00000564391.1_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000564100.1_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000219320.4_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000566953.1_Intron	p.G81fs			WXS	Illumina GAIIx	Phase_I	Q9NVC3	S38A7_HUMAN			2	1125_1126	-			81					Q53GJ9|Q9H9I5	Frame_Shift_Ins	INS	ENST00000570101.1	37	c.242_243insG	CCDS10800.1																																																																																				0.624	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		12	295						12	295	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65022076	65022077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:65022076_65022077insC	ENST00000268603.4	-	7	1597_1598	c.982_983insG	c.(982-984)gtgfs	p.V328fs	CDH11_ENST00000566827.1_Frame_Shift_Ins_p.V202fs|CDH11_ENST00000394156.3_Frame_Shift_Ins_p.V328fs	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGCTTTATCACCCCCTCCTGT	0.46			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(982-984)gatfs		cadherin 11, type 2, OB-cadherin (osteoblast)																																				SO:0001589	frameshift_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022076_65022077insC	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.983dupG	16.37:g.65022081_65022081dupC	ENSP00000268603:p.Val328fs	TSP Lung(24;0.17)	Somatic				CDH11_ENST00000268603.4_Frame_Shift_Ins_p.D328fs|CDH11_ENST00000566827.1_Frame_Shift_Ins_p.D202fs	p.D328fs			WXS	Illumina GAIIx	Phase_I	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1435_1436	-		Ovarian(137;0.0973)	328			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Frame_Shift_Ins	INS	ENST00000268603.4	37	c.982_983insG	CCDS10803.1																																																																																				0.460	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		11	1739						11	1739	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66423350	66423351	+	Frame_Shift_Ins	INS	-	-	G	rs554877512|rs199524490	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:66423350_66423351insG	ENST00000341529.3	+	5	854_855	c.706_707insG	c.(706-708)cggfs	p.R236fs	CDH5_ENST00000563425.2_Frame_Shift_Ins_p.R236fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCAGGGCCTCCGGGGGGACTCG	0.579																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(706-708)gggfs		cadherin 5, type 2 (vascular endothelium)																																				SO:0001589	frameshift_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66423350_66423351insG	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.712dupG	16.37:g.66423356_66423356dupG	ENSP00000344115:p.Arg236fs		Somatic				CDH5_ENST00000563425.2_Frame_Shift_Ins_p.G236fs	p.G236fs	NM_001795.3	NP_001786.2	WXS	Illumina GAIIx	Phase_I	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	5	854_855	+		Ovarian(137;0.0955)	236			Cadherin 2.		Q4VAI5|Q4VAI6	Frame_Shift_Ins	INS	ENST00000341529.3	37	c.706_707insG	CCDS10804.1																																																																																				0.579	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		17	1061						17	1061	---	---	---	---
NAE1	8883	broad.mit.edu	37	16	66839678	66839679	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:66839678_66839679insC	ENST00000290810.3	-	19	1593		c.e19+1		NAE1_ENST00000379463.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000394074.2_Splice_Site			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATGGAACTCACCCCCCAAGAA	0.406																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.e20+1		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)																																			SO:0001630	splice_region_variant	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66839678_66839679insC	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1495+1->G	16.37:g.66839684_66839684dupC			Somatic				NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site		NM_001018159.1	NP_001018169.1	WXS	Illumina GAIIx	Phase_I	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	20	1670	-		Ovarian(137;0.0563)						A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Splice_Site	INS	ENST00000290810.3	37		CCDS10820.1																																																																																				0.406	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	Intron	10	165						10	165	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs		Somatic				C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	WXS	Illumina GAIIx	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		49	782						49	782	---	---	---	---
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)gggcagfs	p.Q215fs	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.Q215fs|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.Q215fs			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(640-645)ggagctfs		KIAA0895-like																																				SO:0001589	frameshift_variant	653319							g.chr16:67213789_67213790insC	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.643dupG	16.37:g.67213795_67213795dupC	ENSP00000290881:p.Gln215fs		Somatic				KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000563831.2_Intron	p.A215fs			WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			4	1568_1569	-			215					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Frame_Shift_Ins	INS	ENST00000290881.7	37	c.642_643insG	CCDS42177.1																																																																																				0.569	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		7	276						7	276	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67290903	67290904	+	Frame_Shift_Ins	INS	-	-	G	rs35182421		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67290903_67290904insG	ENST00000299798.11	+	7	1287_1288	c.1222_1223insG	c.(1222-1224)cggfs	p.R408fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGTG	0.559																																						ENST00000299798.11																			1	Substitution - Missense(1)	p.R408W(1)	kidney(1)	breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1222-1224)gggfs		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001589	frameshift_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290903_67290904insG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1228dupG	16.37:g.67290909_67290909dupG	ENSP00000299798:p.Arg408fs		Somatic					p.G408fs	NM_004594.2	NP_004585.1	WXS	Illumina GAIIx	Phase_I	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1287_1288	+		Ovarian(137;0.0563)	408					A5PKY7|Q9Y626	Frame_Shift_Ins	INS	ENST00000299798.11	37	c.1222_1223insG	CCDS42178.1																																																																																				0.559	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			10	239						10	239	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2299-2304)cctggtfs		potassium channel tetramerization domain containing 19				13,3719		0,13,1853						4.5	1.0			57	14,7888		0,14,3937	no	frameshift	KCTD19	NM_001100915.1		0,27,5790	A1A1,A1R,RR		0.1772,0.3483,0.2321				27,11607				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657_67325658insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302dupC	16.37:g.67325664_67325664dupG	ENSP00000305702:p.Val768fs		Somatic					p.G768fs	NM_001100915.1	NP_001094385.1	WXS	Illumina GAIIx	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2356_2357	-		Ovarian(137;0.192)	768					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.2301_2302insC	CCDS42179.1																																																																																				0.574	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		12	133						12	133	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:68021467_68021468insG	ENST00000572888.1	-	10	2052_2053	c.1402_1403insC	c.(1402-1404)cacfs	p.H468fs	DPEP2_ENST00000412757.2_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1402-1404)catfs		dipeptidase 2																																				SO:0001589	frameshift_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021467_68021468insG	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1403dupC	16.37:g.68021473_68021473dupG	ENSP00000458977:p.His468fs		Somatic				DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs	p.H468fs			WXS	Illumina GAIIx	Phase_I	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	12	2067_2068	-		Ovarian(137;0.192)	468		H -> D (in dbSNP:rs1133090).			B2RCF8|Q6UX92|Q8TC95	Frame_Shift_Ins	INS	ENST00000572888.1	37	c.1402_1403insC	CCDS10857.1																																																																																				0.545	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		35	1177						35	1177	---	---	---	---
PLA2G15	23659	broad.mit.edu	37	16	68289854	68289855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:68289854_68289855insG	ENST00000219345.5	+	5	771_772	c.688_689insG	c.(688-690)tggfs	p.W230fs	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.LG188fs|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.W136fs|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGTG	0.629																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(688-690)gggfs		phospholipase A2, group XV				11,4251		0,11,2120						5.6	1.0			28	14,8240		0,14,4113	no	frameshift	PLA2G15	NM_012320.3		0,25,6233	A1A1,A1R,RR		0.1696,0.2581,0.1997				25,12491				SO:0001589	frameshift_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68289854_68289855insG	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.695dupG	16.37:g.68289861_68289861dupG	ENSP00000219345:p.Trp230fs		Somatic				PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.G136fs|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.R188fs	p.G230fs	NM_012320.3	NP_036452.1	WXS	Illumina GAIIx	Phase_I	Q8NCC3	PAG15_HUMAN			5	771_772	+			230					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Ins	INS	ENST00000219345.5	37	c.688_689insG	CCDS10864.1																																																																																				0.629	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		17	296						17	296	---	---	---	---
PDXDC2P	283970	broad.mit.edu	37	16	70012006	70012007	+	RNA	INS	-	-	G	rs567751221	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:70012006_70012007insG	ENST00000531894.1	-	0	2527_2528				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										TTTCTTGCAGAGGGGGTGATCT	0.465																																						ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(517-522)ccctgcfs																																								283970							g.chr16:70012006_70012007insG			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70012011_70012011dupG			Somatic				RP11-419C5.2_ENST00000532298.1_Frame_Shift_Ins_p.C206fs|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR	p.C174fs			WXS	Illumina GAIIx	Phase_I					25	2588_2589	-								A8K9Z5	Frame_Shift_Ins	INS	ENST00000531894.1	37	c.519_520insC																																																																																					0.465	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			8	2647						8	2647	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cctfs	p.P2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8971-8973)cgafs		HYDIN, axonemal central pair apparatus protein																																				SO:0001589	frameshift_variant	54768							g.chr16:70934982_70934983insG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8973dupC	16.37:g.70934988_70934988dupG	ENSP00000377197:p.Pro2991fs		Somatic					p.R2991fs	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			53	9122_9123	-		Ovarian(137;0.0654)	2991					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	ENST00000393567.2	37	c.8972_8973insC	CCDS59269.1																																																																																				0.574	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			10	1488						10	1488	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71483561	71483562	+	Frame_Shift_Ins	INS	-	-	A	rs143301392		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:71483561_71483562insA	ENST00000393539.2	-	6	1179_1180	c.366_367insT	c.(364-369)tttagtfs	p.S123fs	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Frame_Shift_Ins_p.S123fs|ZNF23_ENST00000417828.1_Frame_Shift_Ins_p.S123fs|ZNF23_ENST00000428724.2_Frame_Shift_Ins_p.S65fs|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Frame_Shift_Ins_p.S65fs	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTTTGACTAAAAAAACACT	0.441																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(364-369)ttgtcafs		zinc finger protein 23																																				SO:0001589	frameshift_variant	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483561_71483562insA	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.367dupT	16.37:g.71483568_71483568dupA	ENSP00000377171:p.Ser123fs		Somatic				RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Frame_Shift_Ins_p.LS122fs|ZNF23_ENST00000357254.4_Frame_Shift_Ins_p.LS122fs|ZNF23_ENST00000564528.1_Frame_Shift_Ins_p.LS64fs|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Frame_Shift_Ins_p.LS64fs|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR	p.LS122fs	NM_145911.1	NP_666016.1	WXS	Illumina GAIIx	Phase_I	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1179_1180	-		Ovarian(137;0.00768)	122					Q8NDP5|Q96IT3|Q9UG42	Frame_Shift_Ins	INS	ENST00000393539.2	37	c.366_367insT	CCDS10900.1																																																																																				0.441	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		8	573						8	573	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668442	+	Frame_Shift_Ins	INS	-	-	G	rs150498655	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:71668441_71668442insG	ENST00000268485.3	+	3	985_986	c.941_942insG	c.(940-945)gcggggfs	p.AG314fs	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	314	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.A314V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTACA	0.579																																						ENST00000268485.3																			1	Substitution - Missense(1)	p.A314V(1)	endometrium(1)	NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(940-942)gggfs		MARVEL domain containing 3																																				SO:0001589	frameshift_variant	91862					integral to membrane		g.chr16:71668441_71668442insG	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.948dupG	16.37:g.71668448_71668448dupG	ENSP00000268485:p.Ala314fs		Somatic				MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	p.G314fs	NM_052858.3	NP_443090.4	WXS	Illumina GAIIx	Phase_I	Q96A59	MALD3_HUMAN			3	985_986	+		Ovarian(137;0.125)	314			MARVEL.		A8K820|H3BQM5|Q96MJ4	Frame_Shift_Ins	INS	ENST00000268485.3	37	c.941_942insG	CCDS10904.1																																																																																				0.579	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		10	207						10	207	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC			Somatic					p.T203_splice			WXS	Illumina GAIIx	Phase_I					6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	10	1806						10	1806	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gagfs	p.E447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.E436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.E447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1339-1341)gatfs		golgi glycoprotein 1																																				SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74525008_74525009insC		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1340dupG	16.37:g.74525014_74525014dupC	ENSP00000405984:p.Glu447fs		Somatic				GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs	p.D447fs	NM_001145667.1	NP_001139139.1	WXS	Illumina GAIIx	Phase_I	Q92896	GSLG1_HUMAN			8	1338_1339	-			447					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Ins	INS	ENST00000422840.2	37	c.1339_1340insG	CCDS45527.1																																																																																				0.515	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		9	276						9	276	---	---	---	---
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:74752942_74752943insG	ENST00000219368.3	-	5	798_799	c.729_730insC	c.(727-732)cccagcfs	p.S244fs	FA2H_ENST00000544337.1_Frame_Shift_Ins_p.S31fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	244					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTCA	0.614																																						ENST00000219368.3																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(727-732)ccgcgafs		fatty acid 2-hydroxylase																																				SO:0001589	frameshift_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74752942_74752943insG	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.730dupC	16.37:g.74752948_74752948dupG	ENSP00000219368:p.Ser244fs		Somatic				FA2H_ENST00000544337.1_Frame_Shift_Ins_p.R31fs	p.R244fs	NM_024306.4	NP_077282.3	WXS	Illumina GAIIx	Phase_I	Q7L5A8	FA2H_HUMAN			5	798_799	-			244					B7Z8T6|O75213|Q96DK1|Q9H1A5	Frame_Shift_Ins	INS	ENST00000219368.3	37	c.729_730insC	CCDS10911.1																																																																																				0.614	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		15	696						15	696	---	---	---	---
CFDP1	10428	broad.mit.edu	37	16	75446448	75446449	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:75446448_75446449insG	ENST00000283882.3	-	3	518_519	c.386_387insC	c.(385-387)ccafs	p.P129fs	RP11-77K12.1_ENST00000561887.1_5'Flank|CFDP1_ENST00000564286.1_5'UTR	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	129	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTTGTGTACTTGGGGGCACTTT	0.455																																						ENST00000283882.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(385-387)cagfs		craniofacial development protein 1																																				SO:0001589	frameshift_variant	10428				multicellular organismal development			g.chr16:75446448_75446449insG	AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.387dupC	16.37:g.75446453_75446453dupG	ENSP00000283882:p.Pro129fs		Somatic				CFDP1_ENST00000564286.1_5'UTR	p.Q129fs	NM_006324.2	NP_006315.1	WXS	Illumina GAIIx	Phase_I	Q9UEE9	CFDP1_HUMAN			3	518_519	-			129			Glu-rich.		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Frame_Shift_Ins	INS	ENST00000283882.3	37	c.386_387insC	CCDS10916.1																																																																																				0.455	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		12	1976						12	1976	---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80646542	80646543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:80646542_80646543insG	ENST00000570137.2	-	5	1353_1354	c.1198_1199insC	c.(1198-1200)cagfs	p.Q400fs	CDYL2_ENST00000566173.1_Frame_Shift_Ins_p.Q401fs|CDYL2_ENST00000563890.1_Frame_Shift_Ins_p.Q401fs|CDYL2_ENST00000562812.1_Frame_Shift_Ins_p.Q401fs	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	400						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCCCAGGATCTGGGGGAAGGTG	0.624																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(1198-1200)gatfs		chromodomain protein, Y-like 2																																				SO:0001589	frameshift_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80646542_80646543insG	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1199dupC	16.37:g.80646547_80646547dupG	ENSP00000476295:p.Gln400fs		Somatic				CDYL2_ENST00000562812.1_Frame_Shift_Ins_p.D401fs|CDYL2_ENST00000566173.1_Frame_Shift_Ins_p.D401fs|CDYL2_ENST00000563890.1_Frame_Shift_Ins_p.D401fs	p.D400fs	NM_152342.2	NP_689555.2	WXS	Illumina GAIIx	Phase_I	Q8N8U2	CDYL2_HUMAN			5	1353_1354	-			400					Q7Z5I8	Frame_Shift_Ins	INS	ENST00000570137.2	37	c.1198_1199insC	CCDS32493.1																																																																																				0.624	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		8	438						8	438	---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81095588	81095589	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:81095588_81095589insC	ENST00000299578.5	-	4	600_601	c.365_366insG	c.(364-366)ggcfs	p.G122fs	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Frame_Shift_Ins_p.G122fs|C16orf46_ENST00000444657.3_5'UTR	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	122						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCTTCTCTGGGCCCCCCTCAGT	0.614																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(364-366)gccfs		chromosome 16 open reading frame 46																																				SO:0001589	frameshift_variant	123775							g.chr16:81095588_81095589insC	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.366dupG	16.37:g.81095594_81095594dupC	ENSP00000299578:p.Gly122fs		Somatic				C16orf46_ENST00000299578.5_Frame_Shift_Ins_p.A122fs|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	p.A122fs	NM_001100873.1	NP_001094343.1	WXS	Illumina GAIIx	Phase_I	Q6P387	CP046_HUMAN			3	480_481	-			122					Q96MA7	Frame_Shift_Ins	INS	ENST00000299578.5	37	c.365_366insG	CCDS10932.1																																																																																				0.614	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		9	491						9	491	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349751	89349752	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:89349751_89349752delTA	ENST00000301030.4	-	9	3658_3659	c.3198_3199delTA	c.(3196-3201)cataaafs	p.HK1066fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.HK1066fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1066	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTGTGTCTTTATGTTTTTCCT	0.386																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3196-3201)caaafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349751_89349752delTA	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3198_3199delTA	16.37:g.89349751_89349752delTA	ENSP00000301030:p.His1066fs		Somatic				ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.HK1066fs	p.HK1066fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	WXS	Illumina GAIIx	Phase_I	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3658_3659	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1066			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Del	DEL	ENST00000301030.4	37	c.3198_3199delTA	CCDS32513.1																																																																																				0.386	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		9	287						9	287	---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	673668	673669	+	Frame_Shift_Ins	INS	-	-	G	rs148496651		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:673668_673669insG	ENST00000301328.5	-	7	690_691	c.667_668insC	c.(667-669)cagfs	p.Q223fs	GLOD4_ENST00000301329.6_Frame_Shift_Ins_p.Q208fs|GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.Q199fs			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	223						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACCTCTTTCTGGGGGCAAGAG	0.48																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(622-624)gaafs		glyoxalase domain containing 4																																				SO:0001589	frameshift_variant	51031					mitochondrion		g.chr17:673668_673669insG	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.668dupC	17.37:g.673673_673673dupG	ENSP00000301328:p.Gln223fs		Somatic				GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.E199fs|GLOD4_ENST00000301328.5_Frame_Shift_Ins_p.E223fs	p.E208fs	NM_016080.3	NP_057164.3	WXS	Illumina GAIIx	Phase_I	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	6	707_708	-			223					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Frame_Shift_Ins	INS	ENST00000301328.5	37	c.622_623insC																																																																																					0.480	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		12	2548						12	2548	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1562780	1562781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:1562780_1562781insC	ENST00000572621.1	-	31	5273_5274	c.5008_5009insG	c.(5008-5010)gacfs	p.D1670fs	PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.D1670fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1670	Involved in interaction with pre-mRNA 5' splice site.|Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGAATCATAGTCCCCCCAGCGC	0.535																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5008-5010)ctafs		pre-mRNA processing factor 8																																				SO:0001589	frameshift_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1562780_1562781insC	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5009dupG	17.37:g.1562786_1562786dupC	ENSP00000460348:p.Asp1670fs		Somatic				PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.L1670fs	p.L1670fs			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	31	5273_5274	-			1670			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Frame_Shift_Ins	INS	ENST00000572621.1	37	c.5008_5009insG	CCDS11010.1																																																																																				0.535	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			8	827						8	827	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs		Somatic					p.G361fs	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		24	2055						24	2055	---	---	---	---
TSR1	55720	broad.mit.edu	37	17	2227499	2227500	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:2227499_2227500insC	ENST00000301364.5	-	15	3484_3485	c.2405_2406insG	c.(2404-2406)ggcfs	p.G802fs	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	802					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATTACTCCATGCCCCCTTGAGG	0.45																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(2404-2406)gatfs		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)			,	0,4264		0,0,2132					,	0.3	0.2			152	1,8253		0,1,4126	no	utr-3,frameshift	TSR1,SRR	NM_021947.1,NM_018128.4	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2227499_2227500insC	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2406dupG	17.37:g.2227504_2227504dupC	ENSP00000301364:p.Gly802fs		Somatic				SRR_ENST00000344595.5_3'UTR	p.D802fs	NM_018128.4	NP_060598.3	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			15	3484_3485	-			802					Q8WUY5|Q9NVT0|Q9P2E6	Frame_Shift_Ins	INS	ENST00000301364.5	37	c.2405_2406insG	CCDS32525.1																																																																																				0.450	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		8	1683						8	1683	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs		Somatic				PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		26	1642						26	1642	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2601712	2601713	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:2601712_2601713insC	ENST00000570628.2	-	10	1429_1430	c.1324_1325insG	c.(1324-1326)gacfs	p.D442fs	CLUH_ENST00000538975.1_Frame_Shift_Ins_p.D442fs|CLUH_ENST00000435359.1_Frame_Shift_Ins_p.D442fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	442					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGCCGCCACGTCCCCCCCGAAG	0.624																																						ENST00000570628.1																			0											c.(1324-1326)cgtfs		clustered mitochondria (cluA/CLU1) homolog																																				SO:0001589	frameshift_variant	23277							g.chr17:2601712_2601713insC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1325dupG	17.37:g.2601719_2601719dupC	ENSP00000458986:p.Asp442fs		Somatic				CLUH_ENST00000538975.1_Frame_Shift_Ins_p.R442fs|CLUH_ENST00000575014.1_Frame_Shift_Ins_p.R374fs|CLUH_ENST00000435359.1_Frame_Shift_Ins_p.R442fs	p.R442fs			WXS	Illumina GAIIx	Phase_I					10	1429_1430	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Ins	INS	ENST00000570628.2	37	c.1324_1325insG	CCDS45572.1																																																																																				0.624	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		14	206						14	206	---	---	---	---
OR1A2	26189	broad.mit.edu	37	17	3101019	3101020	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:3101019_3101020delTG	ENST00000381951.1	+	1	207_208	c.207_208delTG	c.(205-210)gttgacfs	p.D70fs		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	70					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TCTCCTTGGTTGACATCATCTT	0.485																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(205-210)gtacfs		olfactory receptor, family 1, subfamily A, member 2																																				SO:0001589	frameshift_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101019_3101020delTG	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.207_208delTG	17.37:g.3101019_3101020delTG	ENSP00000371377:p.Asp70fs		Somatic					p.VD69fs	NM_012352.1	NP_036484.1	WXS	Illumina GAIIx	Phase_I	Q9Y585	OR1A2_HUMAN			1	207_208	+			69					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Frame_Shift_Del	DEL	ENST00000381951.1	37	c.207_208delTG	CCDS11021.1																																																																																				0.485	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		7	2146						7	2146	---	---	---	---
OR1E1	8387	broad.mit.edu	37	17	3301316	3301317	+	Frame_Shift_Ins	INS	-	-	G	rs138370923		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:3301316_3301317insG	ENST00000322608.2	-	1	387_388	c.388_389insC	c.(388-390)ctgfs	p.L130fs		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	130					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						GGTGTAGTGCAGGGGGAAGCAG	0.559																																						ENST00000322608.2																			0				endometrium(3)|large_intestine(2)|lung(5)	10						c.(388-390)gcafs		olfactory receptor, family 1, subfamily E, member 1																																				SO:0001589	frameshift_variant	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301316_3301317insG	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.389dupC	17.37:g.3301321_3301321dupG	ENSP00000313384:p.Leu130fs		Somatic					p.A130fs	NM_003553.2	NP_003544.2	WXS	Illumina GAIIx	Phase_I	P30953	OR1E1_HUMAN			1	387_388	-			130					O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Frame_Shift_Ins	INS	ENST00000322608.2	37	c.388_389insC	CCDS11024.1																																																																																				0.559	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		15	1023						15	1023	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.P549fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.P510fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.P510fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	549					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1642-1647)ctccccfs		zinc finger, MYND-type containing 15																																				SO:0001589	frameshift_variant	84225						zinc ion binding	g.chr17:4647723_4647724insC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1650dupC	17.37:g.4647729_4647729dupC	ENSP00000391742:p.Pro549fs		Somatic				ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs	p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	WXS	Illumina GAIIx	Phase_I	Q9H091	ZMY15_HUMAN			10	1701_1702	+			509					B4DXY5|I3L296	Frame_Shift_Ins	INS	ENST00000433935.1	37	c.1644_1645insC	CCDS45584.1																																																																																				0.594	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		13	438						13	438	---	---	---	---
PSMB6	5694	broad.mit.edu	37	17	4700049	4700050	+	Frame_Shift_Ins	INS	-	-	G	rs143768117		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4700049_4700050insG	ENST00000270586.3	+	2	180_181	c.129_130insG	c.(130-132)gggfs	p.G44fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						TGCAGTTTGACGGGGGCGTGGT	0.515																																						ENST00000270586.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(127-132)gaggggfs		proteasome (prosome, macropain) subunit, beta type, 6																																				SO:0001589	frameshift_variant	5694				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr17:4700049_4700050insG	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.134dupG	17.37:g.4700054_4700054dupG	ENSP00000270586:p.Gly44fs		Somatic					p.EG43fs	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	WXS	Illumina GAIIx	Phase_I	P28072	PSB6_HUMAN			2	180_181	+			43					Q96J55	Frame_Shift_Ins	INS	ENST00000270586.3	37	c.129_130insG	CCDS11056.1																																																																																				0.515	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		8	2454						8	2454	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4883037	4883038	+	Frame_Shift_Ins	INS	-	-	G	rs149765180		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4883037_4883038insG	ENST00000348066.3	-	9	1702_1703	c.1579_1580insC	c.(1579-1581)cagfs	p.Q527fs	CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.Q526fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.Q550fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.Q529fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.Q532fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.Q527fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	527					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGAGACAGCTGGGGGGTCGGA	0.559																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1576-1578)gctfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883037_4883038insG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1580dupC	17.37:g.4883043_4883043dupG	ENSP00000321813:p.Gln527fs		Somatic				CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.A529fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.A532fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.A527fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.A527fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.A550fs	p.A526fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			8	1987_1988	-			527					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.1576_1577insC	CCDS11063.1																																																																																				0.559	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		7	1194						7	1194	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6904973	6904974	+	Frame_Shift_Ins	INS	-	-	C	rs138651024	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:6904973_6904974insC	ENST00000251535.6	+	8	1057_1058	c.1004_1005insC	c.(1003-1008)gaccccfs	p.DP335fs	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	335	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGCCCTCAGACCCCCCACTTG	0.515																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1003-1005)gccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6904973_6904974insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1010dupC	17.37:g.6904979_6904979dupC	ENSP00000251535:p.Asp335fs		Somatic				AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_3'UTR	p.A335fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			8	1057_1058	+			335			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.1004_1005insC	CCDS11084.1																																																																																				0.515	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			8	828						8	828	---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:6927857_6927858insC	ENST00000293805.5	+	4	631_632	c.539_540insC	c.(538-543)ggccccfs	p.GP180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619																																						ENST00000293805.5																			1	Insertion - Frameshift(1)	p.S183fs*6(1)	lung(1)	skin(1)	1						c.(538-540)gccfs		B-cell CLL/lymphoma 6, member B																																				SO:0001589	frameshift_variant	255877					nucleus	zinc ion binding	g.chr17:6927857_6927858insC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.546dupC	17.37:g.6927864_6927864dupC	ENSP00000293805:p.Gly180fs		Somatic				BCL6B_ENST00000572216.1_3'UTR	p.A180fs	NM_181844.3	NP_862827.1	WXS	Illumina GAIIx	Phase_I	Q8N143	BCL6B_HUMAN			4	631_632	+			180			Pro-rich.		Q6PCB4	Frame_Shift_Ins	INS	ENST00000293805.5	37	c.539_540insC	CCDS42248.1																																																																																				0.619	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		11	326						11	326	---	---	---	---
ELP5	23587	broad.mit.edu	37	17	7157965	7157966	+	Frame_Shift_Ins	INS	-	-	G	rs528401635		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7157965_7157966insG	ENST00000396628.2	+	4	517_518	c.300_301insG	c.(301-303)gggfs	p.G101fs	CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000356683.2_Frame_Shift_Ins_p.G101fs|ELP5_ENST00000396627.2_Frame_Shift_Ins_p.G101fs|CTDNEP1_ENST00000572043.1_5'Flank|CTDNEP1_ENST00000318988.6_5'Flank|ELP5_ENST00000574993.1_Frame_Shift_Ins_p.G101fs|ELP5_ENST00000354429.2_Frame_Shift_Ins_p.G101fs|ELP5_ENST00000574255.1_Frame_Shift_Ins_p.G101fs|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000573657.1_Frame_Shift_Ins_p.G101fs|RP1-4G17.5_ENST00000577138.1_Intron	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	101					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											AGGCCTTTCCTGGGGGGCCGCT	0.515																																						ENST00000574993.1																			0											c.(298-303)ccggggfs		elongator acetyltransferase complex subunit 5																																				SO:0001589	frameshift_variant	23587							g.chr17:7157965_7157966insG	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.306dupG	17.37:g.7157971_7157971dupG	ENSP00000379869:p.Gly101fs		Somatic				ELP5_ENST00000396627.2_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000574255.1_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000396628.2_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000573657.1_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000356683.2_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000354429.2_Frame_Shift_Ins_p.PG100fs|RP1-4G17.5_ENST00000577138.1_Intron	p.PG100fs			WXS	Illumina GAIIx	Phase_I					4	517_518	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Frame_Shift_Ins	INS	ENST00000396628.2	37	c.300_301insG	CCDS11094.1																																																																																				0.515	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		9	406						9	406	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7193636	7193637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7193636_7193637insG	ENST00000007699.5	-	5	740_741	c.677_678insC	c.(676-678)ccafs	p.P226fs	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	226	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AGAAGAAGGGTGGGGGGCACCA	0.658																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(676-678)cccfs		Y box binding protein 2																																				SO:0001589	frameshift_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193636_7193637insG	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.678dupC	17.37:g.7193642_7193642dupG	ENSP00000007699:p.Pro226fs		Somatic					p.P226fs	NM_015982.3	NP_057066.2	WXS	Illumina GAIIx	Phase_I	Q9Y2T7	YBOX2_HUMAN			5	740_741	-			226			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Frame_Shift_Ins	INS	ENST00000007699.5	37	c.677_678insC	CCDS11098.1																																																																																				0.658	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		10	946						10	946	---	---	---	---
GPS2	2874	broad.mit.edu	37	17	7216379	7216380	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7216379_7216380insG	ENST00000380728.2	-	10	1168_1169	c.868_869insC	c.(868-870)cagfs	p.Q290fs	GPS2_ENST00000389167.5_Frame_Shift_Ins_p.Q290fs|GPS2_ENST00000391950.3_Frame_Shift_Ins_p.Q290fs|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	290					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CACAGGGAGCTGGGGGGAAGCA	0.55																																						ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(868-870)gctfs		G protein pathway suppressor 2																																				SO:0001589	frameshift_variant	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216379_7216380insG	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.869dupC	17.37:g.7216385_7216385dupG	ENSP00000370104:p.Gln290fs		Somatic				GPS2_ENST00000391950.3_Frame_Shift_Ins_p.A290fs|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Frame_Shift_Ins_p.A290fs	p.A290fs			WXS	Illumina GAIIx	Phase_I	Q13227	GPS2_HUMAN			10	1168_1169	-		Prostate(122;0.157)	290					B4DXA1|Q6FHM8	Frame_Shift_Ins	INS	ENST00000380728.2	37	c.868_869insC	CCDS11100.1																																																																																				0.550	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		11	745						11	745	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs		Somatic				PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR	p.A242fs			WXS	Illumina GAIIx	Phase_I	Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			32	745						32	745	---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7350885	7350886	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7350885_7350886insGT	ENST00000306071.2	+	6	593_594	c.526_527insGT	c.(526-528)agcfs	p.S176fs	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_Frame_Shift_Ins_p.S104fs|CHRNB1_ENST00000576360.1_Frame_Shift_Ins_p.S104fs	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	176					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CAGCTACGACAGCTCGGAGGTC	0.55																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(526-528)ctcfs		cholinergic receptor, nicotinic, beta 1 (muscle)																																				SO:0001589	frameshift_variant	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7350885_7350886insGT	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	Exception_encountered	17.37:g.7350885_7350886insGT	ENSP00000304290:p.Ser176fs		Somatic				CHRNB1_ENST00000576360.1_Frame_Shift_Ins_p.L104fs|CHRNB1_ENST00000536404.2_Frame_Shift_Ins_p.L104fs	p.L176fs	NM_000747.2	NP_000738.2	WXS	Illumina GAIIx	Phase_I	P11230	ACHB_HUMAN			6	593_594	+		Prostate(122;0.157)	176					B7Z5H1|Q8IZ46|Q96FB8	Frame_Shift_Ins	INS	ENST00000306071.2	37	c.526_527insGT	CCDS11106.1																																																																																				0.550	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			70	666						70	666	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7573943	7573944	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7573943_7573944insC	ENST00000269305.4	-	10	1272_1273	c.1083_1084insG	c.(1081-1086)gggagcfs	p.S362fs	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S362fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	362	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with USP7.				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.0?(8)|p.I332fs*5(1)|p.G361fs*8(1)|p.?(1)|p.S362fs*8(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)	TGAGCCCTGCTCCCCCCTGGCT	0.594		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)	ENST00000269305.4		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"""		12	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.0?(8)|p.I332fs*5(1)|p.G361fs*8(1)|p.?(1)|p.S362fs*8(1)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(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.(1081-1086)gggcagfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7573943_7573944insC	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.1084dupG	17.37:g.7573949_7573949dupC	ENSP00000269305:p.Ser362fs	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)	Somatic				TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q362fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	p.Q362fs	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	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1272_1273	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	362			Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with USP7.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.1083_1084insG	CCDS11118.1																																																																																				0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	544						7	544	---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7592154	7592156	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7592154_7592156delTGT	ENST00000316024.5	+	1	2536_2538	c.188_190delTGT	c.(187-192)gtgtcc>gcc	p.63_64VS>A	WRAP53_ENST00000457584.2_In_Frame_Del_p.63_64VS>A|WRAP53_ENST00000431639.2_In_Frame_Del_p.63_64VS>A|WRAP53_ENST00000534050.1_In_Frame_Del_p.63_64VS>A|TP53_ENST00000455263.2_5'Flank|WRAP53_ENST00000396463.2_In_Frame_Del_p.63_64VS>A|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000445888.2_5'Flank|RP11-199F11.2_ENST00000571370.1_RNA|TP53_ENST00000420246.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	63					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGCTCAGCTGTGTCCCAGGAGCT	0.586																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(187-192)gcc>g		WD repeat containing, antisense to TP53																																				SO:0001651	inframe_deletion	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7592154_7592156delTGT	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.188_190delTGT	17.37:g.7592154_7592156delTGT	ENSP00000324203:p.Val63_Ser64delinsAla		Somatic				WRAP53_ENST00000457584.2_In_Frame_Del_p.VS63del|WRAP53_ENST00000396463.2_In_Frame_Del_p.VS63del|WRAP53_ENST00000534050.1_In_Frame_Del_p.VS63del|WRAP53_ENST00000431639.2_In_Frame_Del_p.VS63del	p.VS63del			WXS	Illumina GAIIx	Phase_I	Q9BUR4	WAP53_HUMAN			1	2536_2538	+			63					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	In_Frame_Del	DEL	ENST00000316024.5	37	c.188_190delTGT	CCDS11119.1																																																																																				0.586	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		33	675						33	675	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs		Somatic					p.GP328fs	NM_001406.3	NP_001397.1	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		15	548						15	548	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7696373	7696374	+	Frame_Shift_Ins	INS	-	-	G	rs372173393		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7696373_7696374insG	ENST00000572933.1	+	48	8879_8880	c.7419_7420insG	c.(7420-7422)gggfs	p.G2474fs	DNAH2_ENST00000389173.2_Frame_Shift_Ins_p.G2474fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2474	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGTGCCATTCGGGGGCAAAAG	0.51																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7417-7422)ttggggfs		dynein, axonemal, heavy chain 2																																				SO:0001589	frameshift_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696373_7696374insG	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7424dupG	17.37:g.7696378_7696378dupG	ENSP00000458355:p.Gly2474fs		Somatic				DNAH2_ENST00000389173.2_Frame_Shift_Ins_p.LG2473fs	p.LG2473fs			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			48	8879_8880	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2473			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Ins	INS	ENST00000572933.1	37	c.7419_7420insG	CCDS32551.1																																																																																				0.510	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		14	1435						14	1435	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798702	7798703	+	Frame_Shift_Ins	INS	-	-	G	rs142170880		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7798702_7798703insG	ENST00000330494.7	+	10	1699_1700	c.1549_1550insG	c.(1549-1551)tggfs	p.W517fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.W517fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.W576fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	517	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACATTGGCGGTGGGGGGAGCCA	0.569																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1726-1728)gggfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798702_7798703insG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1555dupG	17.37:g.7798708_7798708dupG	ENSP00000332628:p.Trp517fs		Somatic				CHD3_ENST00000358181.4_Frame_Shift_Ins_p.G517fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.G517fs	p.G576fs	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			10	1727_1728	+		Prostate(122;0.202)	517			Chromo 1.		D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1726_1727insG	CCDS32554.1																																																																																				0.569	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		11	1022						11	1022	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7852808	7852809	+	Frame_Shift_Ins	INS	-	-	G	rs35508310		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7852808_7852809insG	ENST00000563694.1	+	19	3617_3618	c.2692_2693insG	c.(2692-2694)cggfs	p.R898fs	CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.R899fs|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000380262.3_Frame_Shift_Ins_p.R920fs	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.55																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2758-2760)gggfs		centrobin, centrosomal BRCA2 interacting protein																																				SO:0001589	frameshift_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852808_7852809insG	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2699dupG	17.37:g.7852815_7852815dupG	ENSP00000456335:p.Arg898fs		Somatic				CNTROB_ENST00000563694.1_Frame_Shift_Ins_p.G898fs|CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.G899fs|CNTROB_ENST00000380255.3_3'UTR	p.G920fs	NM_001037144.5	NP_001032221.1	WXS	Illumina GAIIx	Phase_I	Q8N137	CNTRB_HUMAN			19	3683_3684	+		Prostate(122;0.173)	898					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Frame_Shift_Ins	INS	ENST00000563694.1	37	c.2758_2759insG	CCDS11126.1																																																																																				0.550	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		7	170						7	170	---	---	---	---
VAMP2	6844	broad.mit.edu	37	17	8065660	8065661	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8065660_8065661insG	ENST00000316509.6	-	2	124_125	c.29_30insC	c.(28-30)cctfs	p.P10fs	RP11-599B13.6_ENST00000498285.1_Frame_Shift_Ins_p.P10fs|VAMP2_ENST00000481878.1_Frame_Shift_Ins_p.P10fs|VAMP2_ENST00000404970.3_5'UTR|VAMP2_ENST00000488857.1_Frame_Shift_Ins_p.P12fs	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	10					cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|membrane organization (GO:0061024)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	calcium-dependent protein binding (GO:0048306)|protein self-association (GO:0043621)									Botulinum Toxin Type B(DB00042)	CCGGGGCAGCAGGGGGGGCCGT	0.698																																						ENST00000316509.6																			0											c.(28-30)cgcfs		vesicle-associated membrane protein 2 (synaptobrevin 2)	Botulinum Toxin Type B(DB00042)																																			SO:0001589	frameshift_variant	6844				energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome		g.chr17:8065660_8065661insG		CCDS32561.1	17p13.1	2013-09-19			ENSG00000220205	ENSG00000220205		"""Vesicle-associated membrane proteins"""	12643	protein-coding gene	gene with protein product		185881		SYB2		1976629	Standard	NM_014232		Approved	VAMP-2	uc010cnt.1	P63027	OTTHUMG00000150254	ENST00000316509.6:c.30dupC	17.37:g.8065667_8065667dupG	ENSP00000314214:p.Pro10fs		Somatic				VAMP2_ENST00000481878.1_Frame_Shift_Ins_p.R10fs|RP11-599B13.6_ENST00000498285.1_Frame_Shift_Ins_p.R10fs|VAMP2_ENST00000404970.3_5'UTR|VAMP2_ENST00000488857.1_Frame_Shift_Ins_p.R12fs	p.R10fs	NM_014232.2	NP_055047.2	WXS	Illumina GAIIx	Phase_I	P63027	VAMP2_HUMAN			2	124_125	-			10					P19065|Q9BUC2	Frame_Shift_Ins	INS	ENST00000316509.6	37	c.29_30insC	CCDS32561.1																																																																																				0.698	VAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317118.1			7	76						7	76	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8133713	8133714	+	Frame_Shift_Ins	INS	-	-	G	rs199473677		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8133713_8133714insG	ENST00000315684.8	-	17	2838_2839	c.2831_2832insC	c.(2830-2832)cctfs	p.P944fs		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	944					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CATCCAGGTGAGGGGGGAATTC	0.52																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(2830-2832)ccafs		CTS telomere maintenance complex component 1																																				SO:0001589	frameshift_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8133713_8133714insG	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2832dupC	17.37:g.8133719_8133719dupG	ENSP00000313759:p.Pro944fs		Somatic					p.P944fs	NM_025099.5	NP_079375.3	WXS	Illumina GAIIx	Phase_I	Q2NKJ3	CTC1_HUMAN			17	2838_2839	-			944					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Frame_Shift_Ins	INS	ENST00000315684.8	37	c.2831_2832insC	CCDS42259.1																																																																																				0.520	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		15	705						15	705	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8138564	8138565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8138564_8138565insC	ENST00000315684.8	-	8	1252_1253	c.1245_1246insG	c.(1243-1248)gggacafs	p.T416fs	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	416					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCCTTCTTGTCCCCCCTCCCA	0.584																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1243-1248)ggcaagfs		CTS telomere maintenance complex component 1																																				SO:0001589	frameshift_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138564_8138565insC	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1246dupG	17.37:g.8138570_8138570dupC	ENSP00000313759:p.Thr416fs		Somatic					p.K416fs	NM_025099.5	NP_079375.3	WXS	Illumina GAIIx	Phase_I	Q2NKJ3	CTC1_HUMAN			8	1252_1253	-			416					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Frame_Shift_Ins	INS	ENST00000315684.8	37	c.1245_1246insG	CCDS42259.1																																																																																				0.584	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		13	786						13	786	---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8167584	8167585	+	Frame_Shift_Ins	INS	-	-	C	rs138697840	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8167584_8167585insC	ENST00000314666.6	+	16	1979_1980	c.1846_1847insC	c.(1846-1848)gccfs	p.A616fs	PFAS_ENST00000545834.1_Frame_Shift_Ins_p.A192fs|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	616					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCAGGGGGATGCCCCCCCGACA	0.594																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1846-1848)cccfs		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167584_8167585insC	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1853dupC	17.37:g.8167591_8167591dupC	ENSP00000313490:p.Ala616fs		Somatic				PFAS_ENST00000545834.1_Frame_Shift_Ins_p.P192fs|PFAS_ENST00000585319.1_3'UTR	p.P616fs	NM_012393.2	NP_036525.1	WXS	Illumina GAIIx	Phase_I	O15067	PUR4_HUMAN			16	1979_1980	+			616					A6H8V8	Frame_Shift_Ins	INS	ENST00000314666.6	37	c.1846_1847insC	CCDS11136.1																																																																																				0.594	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			8	143						8	143	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8219107	8219108	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8219107_8219108insC	ENST00000361926.3	+	8	1566_1567	c.1456_1457insC	c.(1456-1458)tccfs	p.S486fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.S486fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	486	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TGTGCGCTCTTCCCCCCACATC	0.584																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1456-1458)cccfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8219107_8219108insC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1462dupC	17.37:g.8219113_8219113dupC	ENSP00000355026:p.Ser486fs		Somatic				ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P486fs	p.P486fs	NM_173728.3	NP_776089.2	WXS	Illumina GAIIx	Phase_I	O94989	ARHGF_HUMAN			8	1566_1567	+			486			DH.		A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1456_1457insC	CCDS11139.1																																																																																				0.584	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		9	428						9	428	---	---	---	---
MFSD6L	162387	broad.mit.edu	37	17	8701347	8701348	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8701347_8701348insC	ENST00000329805.4	-	1	1319_1320	c.1091_1092insG	c.(1090-1092)ggtfs	p.G364fs		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	364						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GGTGGGGGTCACCCCCCACAAT	0.55																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(1090-1092)ggafs		major facilitator superfamily domain containing 6-like																																				SO:0001589	frameshift_variant	162387					integral to membrane		g.chr17:8701347_8701348insC	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1092dupG	17.37:g.8701353_8701353dupC	ENSP00000330051:p.Gly364fs		Somatic					p.G364fs	NM_152599.3	NP_689812.3	WXS	Illumina GAIIx	Phase_I	Q8IWD5	MFS6L_HUMAN			1	1319_1320	-			364					Q6YL34|Q8NA76	Frame_Shift_Ins	INS	ENST00000329805.4	37	c.1091_1092insG	CCDS11146.1																																																																																				0.550	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		7	248						7	248	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10419785	10419786	+	Frame_Shift_Ins	INS	-	-	C	rs147810417		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:10419785_10419786insC	ENST00000226207.5	-	3	268_269	c.174_175insG	c.(172-177)gggaagfs	p.K59fs	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	59					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGTCACCTTCCCCCCTTCCC	0.475																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(172-177)ggaggtfs		myosin, heavy chain 1, skeletal muscle, adult																																				SO:0001589	frameshift_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419785_10419786insC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.175dupG	17.37:g.10419791_10419791dupC	ENSP00000226207:p.Lys59fs		Somatic				CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.G59fs	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			3	268_269	-			59			Myosin head-like.		Q14CA4|Q9Y622	Frame_Shift_Ins	INS	ENST00000226207.5	37	c.174_175insG	CCDS11155.1																																																																																				0.475	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		12	1407						12	1407	---	---	---	---
ADPRM	56985	broad.mit.edu	37	17	10608647	10608647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:10608647delT	ENST00000379774.4	+	2	495	c.404delT	c.(403-405)attfs	p.I135fs	ADPRM_ENST00000609540.1_Frame_Shift_Del_p.I135fs	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	135							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										GAAGATCAGATTGTACATCAT	0.348																																						ENST00000379774.4																			0											c.(403-405)atfs		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							124.0	115.0	118.0					17																	10608647		2203	4300	6503	SO:0001589	frameshift_variant	56985							g.chr17:10608647delT	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.404delT	17.37:g.10608647delT	ENSP00000369099:p.Ile135fs		Somatic				ADPRM_ENST00000527582.2_Frame_Shift_Del_p.I135fs	p.I135fs	NM_020233.4	NP_064618.3	WXS	Illumina GAIIx	Phase_I					2	495	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Frame_Shift_Del	DEL	ENST00000379774.4	37	c.404delT	CCDS11159.2																																																																																				0.348	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		8	179						8	179	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11687738	11687739	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:11687738_11687739insC	ENST00000262442.4	+	41	8011_8012	c.7943_7944insC	c.(7942-7947)atccccfs	p.IP2648fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.IP2648fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2648	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAAATCCATCCCCCCACTGA	0.535																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7942-7944)accfs		dynein, axonemal, heavy chain 9																																				SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687738_11687739insC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7949dupC	17.37:g.11687744_11687744dupC	ENSP00000262442:p.Ile2648fs		Somatic				DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.T2648fs	p.T2648fs	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	8011_8012	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2648			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	ENST00000262442.4	37	c.7943_7944insC	CCDS11160.1																																																																																				0.535	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	1135						13	1135	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:12642605_12642606insC	ENST00000343344.4	+	7	677_678	c.677_678insC	c.(676-681)ggccccfs	p.GP226fs	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.GP130fs|MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.GP226fs			Q8IZQ8	MYCD_HUMAN	myocardin	226					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGCA	0.584																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(676-678)gccfs		myocardin																																				SO:0001589	frameshift_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642605_12642606insC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.684dupC	17.37:g.12642612_12642612dupC	ENSP00000341835:p.Gly226fs		Somatic				MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs	p.A226fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	WXS	Illumina GAIIx	Phase_I	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	877_878	+			226					Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	c.677_678insC	CCDS11163.1																																																																																				0.584	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		10	255						10	255	---	---	---	---
UBB	7314	broad.mit.edu	37	17	16285784	16285785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:16285784_16285785insC	ENST00000395837.1	+	2	744_745	c.563_564insC	c.(562-567)atccccfs	p.IP188fs	UBB_ENST00000395839.1_Frame_Shift_Ins_p.IP188fs|UBB_ENST00000302182.3_Frame_Shift_Ins_p.IP188fs|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Frame_Shift_Ins_p.IP112fs	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	188	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.D191fs*35(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAAGAAGGCATCCCCCCCGACC	0.545																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Deletion - Frameshift(1)	p.D191fs*35(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(562-564)accfs		ubiquitin B																																				SO:0001589	frameshift_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285784_16285785insC		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.570dupC	17.37:g.16285791_16285791dupC	ENSP00000379178:p.Ile188fs		Somatic				UBB_ENST00000395837.1_Frame_Shift_Ins_p.T188fs|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395839.1_Frame_Shift_Ins_p.T188fs|UBB_ENST00000535788.1_Frame_Shift_Ins_p.T112fs|RP11-138I1.4_ENST00000583934.1_RNA	p.T188fs	NM_018955.2	NP_061828.1	WXS	Illumina GAIIx	Phase_I	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	955_956	+			188			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Ins	INS	ENST00000395837.1	37	c.563_564insC	CCDS11177.1																																																																																				0.545	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		7	183						7	183	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18057111	18057112	+	Frame_Shift_Ins	INS	-	-	C	rs577657134		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18057111_18057112insC	ENST00000205890.5	+	43	8327_8328	c.7989_7990insC	c.(7990-7992)cccfs	p.P2664fs	MYO15A_ENST00000418233.3_5'UTR|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2664	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GATCGCTGGAGCCCCCTGAGGA	0.525																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7987-7992)gaccccfs		myosin XVA																																				SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18057111_18057112insC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7994dupC	17.37:g.18057116_18057116dupC	ENSP00000205890:p.Pro2664fs		Somatic				MYO15A_ENST00000418233.3_5'UTR	p.DP2663fs	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			43	8327_8328	+	all_neural(463;0.228)		2663			Tail.		B4DFC7	Frame_Shift_Ins	INS	ENST00000205890.5	37	c.7989_7990insC	CCDS42271.1																																																																																				0.525	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	1494						7	1494	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18082157	18082158	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18082157_18082158insC	ENST00000205890.5	+	66	10904_10905	c.10566_10567insC	c.(10567-10569)cccfs	p.P3523fs	MYO15A_ENST00000451725.2_3'UTR|RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000418233.3_3'UTR|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3523	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCTCACATTGCCCCCCAGCGA	0.604																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(10564-10569)ttccccfs		myosin XVA																																				SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18082157_18082158insC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10572dupC	17.37:g.18082163_18082163dupC	ENSP00000205890:p.Pro3523fs		Somatic				MYO15A_ENST00000451725.2_3'UTR|MYO15A_ENST00000418233.3_3'UTR|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	p.FP3522fs	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			66	10904_10905	+	all_neural(463;0.228)		3522			FERM.|Tail.		B4DFC7	Frame_Shift_Ins	INS	ENST00000205890.5	37	c.10566_10567insC	CCDS42271.1																																																																																				0.604	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		8	247						8	247	---	---	---	---
FAM106A	80039	broad.mit.edu	37	17	18430770	18430771	+	5'Flank	INS	-	-	C	rs564039237		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18430770_18430771insC	ENST00000392176.3	-	0	0				CTD-2303H24.2_ENST00000425211.1_RNA			Q4KMX7	F106A_HUMAN	family with sequence similarity 106, member A																		GCCCCAACGCACCCCCCCACTT	0.564																																						ENST00000425211.1																			0																																																	SO:0001631	upstream_gene_variant	220594							g.chr17:18430770_18430771insC	AK021862		17p11.2	2013-01-17			ENSG00000213077	ENSG00000213077			25682	other	unknown						14702039	Standard	NR_026809		Approved	FLJ11800	uc002gtz.2	Q4KMX7	OTTHUMG00000179516		17.37:g.18430777_18430777dupC	Exception_encountered		Somatic								WXS	Illumina GAIIx	Phase_I					0	1497	-								Q9HAD1	RNA	INS	ENST00000392176.3	37																																																																																						0.564	FAM106A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000446827.1	NR_026809		17	301						17	301	---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19459097	19459098	+	Intron	INS	-	-	C	rs373281364		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:19459097_19459098insC	ENST00000270570.4	+	9	825				SLC47A1_ENST00000395585.1_Intron|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Frame_Shift_Ins_p.VP48fs|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000457293.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1						organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AATGTGTGTGTCCCCCCCACAG	0.599																																						ENST00000571335.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(142-144)gccfs		solute carrier family 47 (multidrug and toxin extrusion), member 1				9,4255		0,9,2123						4.7	0.1			54	7,8247		0,7,4120	no	intron	SLC47A1	NM_018242.2		0,16,6243	A1A1,A1R,RR		0.0848,0.2111,0.1278				16,12502				SO:0001627	intron_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459097_19459098insC		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.740-11->C	17.37:g.19459104_19459104dupC			Somatic				SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000270570.4_Intron	p.A48fs			WXS	Illumina GAIIx	Phase_I	Q96FL8	S47A1_HUMAN			7	563_564	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		0					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Frame_Shift_Ins	INS	ENST00000270570.4	37	c.143_144insC	CCDS11209.1																																																																																				0.599	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		26	327						26	327	---	---	---	---
KRT16P3	644945	broad.mit.edu	37	17	20405869	20405870	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:20405869_20405870insG	ENST00000580113.1	-	0	993_994									keratin 16 pseudogene 3																		ACTGGTGACTTGGGGGCTGCTG	0.554																																						ENST00000580113.1																			0																																																			644945							g.chr17:20405869_20405870insG	BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20405874_20405874dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	993_994	-									RNA	INS	ENST00000580113.1	37																																																																																						0.554	KRT16P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443764.1	NR_029393		7	611						7	611	---	---	---	---
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:21731033_21731034insC	ENST00000578713.1	+	1	339_340	c.335_336insC	c.(334-339)atccccfs	p.IP112fs	UBBP4_ENST00000584755.1_Frame_Shift_Ins_p.IP112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.54																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(334-336)accfs																																						SO:0001589	frameshift_variant	23666							g.chr17:21731033_21731034insC	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.342dupC	17.37:g.21731040_21731040dupC	ENSP00000464265:p.Ile112fs		Somatic				UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs	p.T112fs			WXS	Illumina GAIIx	Phase_I					2	732_733	+									Frame_Shift_Ins	INS	ENST00000578713.1	37	c.335_336insC																																																																																					0.540	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			14	279						14	279	---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25910015	25910016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:25910015_25910016insC	ENST00000319524.6	+	4	864_865	c.864_865insC	c.(865-867)cccfs	p.P289fs	KSR1_ENST00000509603.2_Frame_Shift_Ins_p.P289fs|KSR1_ENST00000268763.6_Frame_Shift_Ins_p.P152fs|KSR1_ENST00000398988.3_Frame_Shift_Ins_p.P152fs			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	289	Poly-Pro.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P292fs*22(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACCACGGACGCCCCCCCCACC	0.678																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			2	Insertion - Frameshift(2)	p.P292fs*22(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(451-456)acccccfs		kinase suppressor of ras 1																																				SO:0001589	frameshift_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25910015_25910016insC	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.872dupC	17.37:g.25910023_25910023dupC	ENSP00000323178:p.Pro289fs		Somatic				KSR1_ENST00000268763.6_Frame_Shift_Ins_p.TP151fs|KSR1_ENST00000319524.6_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000509603.2_Frame_Shift_Ins_p.TP288fs	p.TP151fs	NM_014238.1	NP_055053.1	WXS	Illumina GAIIx	Phase_I	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	5	898_899	+	Lung NSC(42;0.00836)		286					F8WEA9|H7BYU0|Q13476	Frame_Shift_Ins	INS	ENST00000319524.6	37	c.453_454insC																																																																																					0.678	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		9	33						9	33	---	---	---	---
LGALS9	3965	broad.mit.edu	37	17	25975971	25975972	+	Frame_Shift_Ins	INS	-	-	G	rs138666349	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:25975971_25975972insG	ENST00000395473.2	+	11	2499_2500	c.1031_1032insG	c.(1030-1035)gtggggfs	p.VG344fs	LGALS9_ENST00000310394.5_Frame_Shift_Ins_p.VG300fs|LGALS9_ENST00000302228.5_Frame_Shift_Ins_p.VG312fs|LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000413914.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	344	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGACTGGAAGTGGGGGGCGACA	0.614																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(1030-1032)gggfs		lectin, galactoside-binding, soluble, 9																																				SO:0001589	frameshift_variant	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25975971_25975972insG	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.1037dupG	17.37:g.25975977_25975977dupG	ENSP00000378856:p.Val344fs		Somatic				LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000310394.5_Frame_Shift_Ins_p.G300fs|LGALS9_ENST00000302228.5_Frame_Shift_Ins_p.G312fs|LGALS9_ENST00000413914.2_3'UTR	p.G344fs	NM_009587.2	NP_033665.1	WXS	Illumina GAIIx	Phase_I	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	11	2499_2500	+	Lung NSC(42;0.0103)		344			Galectin 2.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Frame_Shift_Ins	INS	ENST00000395473.2	37	c.1031_1032insG	CCDS11222.1																																																																																				0.614	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		10	699						10	699	---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26817513	26817514	+	Frame_Shift_Ins	INS	-	-	G	rs201097963		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:26817513_26817514insG	ENST00000314669.5	+	3	693_694	c.273_274insG	c.(274-276)gggfs	p.G92fs	SLC13A2_ENST00000444914.3_Frame_Shift_Ins_p.G141fs|SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.G49fs|SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.G21fs	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	92					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCTGTTCTTCGGGGGGCTGCT	0.639																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(418-423)ttggggfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817513_26817514insG	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.279dupG	17.37:g.26817519_26817519dupG	ENSP00000316202:p.Gly92fs		Somatic				SLC13A2_ENST00000314669.5_Frame_Shift_Ins_p.LG91fs|SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.LG20fs|SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.LG48fs	p.LG140fs	NM_001145975.1	NP_001139447.1	WXS	Illumina GAIIx	Phase_I	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	3	840_841	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		91					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Frame_Shift_Ins	INS	ENST00000314669.5	37	c.420_421insG	CCDS11231.1																																																																																				0.639	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		12	385						12	385	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)ccafs	p.P673fs	KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.P530fs|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.P530fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2017-2019)cgafs		KIAA0100																																				SO:0001589	frameshift_variant	9703					extracellular region		g.chr17:26962586_26962587insG	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2019dupC	17.37:g.26962592_26962592dupG	ENSP00000436773:p.Pro673fs		Somatic				KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs	p.R673fs	NM_014680.3	NP_055495.2	WXS	Illumina GAIIx	Phase_I	Q14667	K0100_HUMAN			16	2092_2093	-	Lung NSC(42;0.00431)		673					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Frame_Shift_Ins	INS	ENST00000528896.2	37	c.2018_2019insC	CCDS32595.1																																																																																				0.505	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		7	453						7	453	---	---	---	---
FLOT2	2319	broad.mit.edu	37	17	27211271	27211272	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27211271_27211272insC	ENST00000394908.4	-	3	297_298	c.193_194insG	c.(193-195)gtafs	p.V65fs	FLOT2_ENST00000394906.2_Frame_Shift_Ins_p.V120fs|FLOT2_ENST00000577789.1_Intron|FLOT2_ENST00000585169.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	65					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGTTAAAGCTACCCCCTCGGCC	0.609																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(358-360)agcfs		flotillin 2																																				SO:0001589	frameshift_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27211271_27211272insC	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.194dupG	17.37:g.27211276_27211276dupC	ENSP00000378368:p.Val65fs		Somatic				FLOT2_ENST00000577789.1_Intron|FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000394908.4_Frame_Shift_Ins_p.S65fs	p.S120fs			WXS	Illumina GAIIx	Phase_I	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		5	435_436	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		65						Frame_Shift_Ins	INS	ENST00000394908.4	37	c.358_359insG	CCDS11245.2																																																																																				0.609	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		7	391						7	391	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27233908_27233909insG	ENST00000332830.4	-	14	3455_3456	c.2645_2646insC	c.(2644-2646)ccafs	p.P882fs	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.51																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2644-2646)cagfs		PHD finger protein 12																																				SO:0001589	frameshift_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233908_27233909insG	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2646dupC	17.37:g.27233915_27233915dupG	ENSP00000329933:p.Pro882fs		Somatic				PHF12_ENST00000577226.1_3'UTR	p.Q882fs	NM_001033561.1	NP_001028733.1	WXS	Illumina GAIIx	Phase_I	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		14	3455_3456	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		882						Frame_Shift_Ins	INS	ENST00000332830.4	37	c.2645_2646insC	CCDS32598.1																																																																																				0.510	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		14	415						14	415	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27244345	27244346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27244345_27244346insG	ENST00000332830.4	-	7	1901_1902	c.1091_1092insC	c.(1090-1092)cctfs	p.P364fs	PHF12_ENST00000577226.1_Frame_Shift_Ins_p.P364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.P364fs	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACGCCGGTTAGGGGGGTGCTT	0.53																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1090-1092)caafs		PHD finger protein 12																																				SO:0001589	frameshift_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27244345_27244346insG	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1092dupC	17.37:g.27244351_27244351dupG	ENSP00000329933:p.Pro364fs		Somatic				PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs	p.Q364fs			WXS	Illumina GAIIx	Phase_I	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		7	1437_1438	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		364			Interaction with SIN3A.			Frame_Shift_Ins	INS	ENST00000332830.4	37	c.1091_1092insC	CCDS32598.1																																																																																				0.530	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		22	1113						22	1113	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27409384	27409385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27409384_27409385insT	ENST00000527372.1	-	41	6149_6150	c.5969_5970insA	c.(5968-5970)aacfs	p.N1990fs	MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.N1938fs|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.N1975fs|MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.N1990fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1990					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGGTCCCTTGTTTTTTGACAA	0.535																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(5968-5970)aaafs		myosin XVIIIA																																				SO:0001589	frameshift_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27409384_27409385insT	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5970dupA	17.37:g.27409390_27409390dupT	ENSP00000437073:p.Asn1990fs		Somatic				TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.K1938fs|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.K1990fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.K1975fs	p.K1990fs	NM_078471.3	NP_510880.2	WXS	Illumina GAIIx	Phase_I	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		41	6149_6150	-			1990					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Frame_Shift_Ins	INS	ENST00000527372.1	37	c.5969_5970insA	CCDS45642.1																																																																																				0.535	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		13	1385						13	1385	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27957923	27957924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27957923_27957924insG	ENST00000269033.3	-	15	4358_4359	c.4207_4208insC	c.(4207-4209)cttfs	p.L1403fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.L1430fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1403					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTCTCCTAAGGGGGTGAGTT	0.53																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4207-4209)tagfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27957923_27957924insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4208dupC	17.37:g.27957928_27957928dupG	ENSP00000269033:p.Leu1403fs		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.*1430fs	p.*1403fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	4358_4359	-			1403					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.4207_4208insC	CCDS11253.1																																																																																				0.530	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		7	816						7	816	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	-	C	rs587781807		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:29553477_29553478insC	ENST00000358273.4	+	18	2409_2410	c.2026_2027insC	c.(2026-2028)accfs	p.T676fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.T676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	676					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.46			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.P678fs*10(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2026-2028)cccfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553477_29553478insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2033dupC	17.37:g.29553484_29553484dupC	ENSP00000351015:p.Thr676fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs	p.P676fs	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2409_2410	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	676					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.2026_2027insC	CCDS42292.1																																																																																				0.460	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		9	195						9	195	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29576097	29576098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:29576097_29576098insC	ENST00000358273.4	+	30	4453_4454	c.4070_4071insC	c.(4069-4074)ttccccfs	p.FP1357fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.FP1357fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1357	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTCAGAATTCCCCCCTCAAC	0.406			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4069-4071)tccfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576097_29576098insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4076dupC	17.37:g.29576103_29576103dupC	ENSP00000351015:p.Phe1357fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Frame_Shift_Ins_p.S1357fs	p.S1357fs	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	30	4453_4454	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1357			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.4070_4071insC	CCDS42292.1																																																																																				0.406	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		14	634						14	634	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		16	436						16	436	---	---	---	---
PSMD11	5717	broad.mit.edu	37	17	30796173	30796174	+	Frame_Shift_Ins	INS	-	-	C	rs34078182	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:30796173_30796174insC	ENST00000261712.3	+	6	868_869	c.605_606insC	c.(604-609)tgccccfs	p.CP202fs	PSMD11_ENST00000457654.2_Frame_Shift_Ins_p.CP202fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	202					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GCCATCTACTGCCCCCCTAAAT	0.475																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(604-606)tccfs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11																																				SO:0001589	frameshift_variant	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30796173_30796174insC	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.611dupC	17.37:g.30796179_30796179dupC	ENSP00000261712:p.Cys202fs		Somatic				PSMD11_ENST00000457654.2_Frame_Shift_Ins_p.S202fs	p.S202fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	WXS	Illumina GAIIx	Phase_I	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		6	868_869	+		Breast(31;0.159)|Ovarian(249;0.182)	202					A8K3I7|E1P663|O00495|Q53FT5	Frame_Shift_Ins	INS	ENST00000261712.3	37	c.605_606insC	CCDS11272.1																																																																																				0.475	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		7	209						7	209	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)cggfs	p.R528fs	TAF15_ENST00000592237.1_Splice_Site_p.G333fs|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.R525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1582-1584)gggfs		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa																																				SO:0001589	frameshift_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171885_34171886insG	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1589dupG	17.37:g.34171892_34171892dupG	ENSP00000466950:p.Arg528fs		Somatic				TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs	p.G528fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	WXS	Illumina GAIIx	Phase_I	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1697_1698	+		Ovarian(249;0.17)	528			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Frame_Shift_Ins	INS	ENST00000588240.1	37	c.1582_1583insG	CCDS32623.1																																																																																				0.609	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		17	251						17	251	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:35487100_35487101insC	ENST00000394406.2	-	46	5802_5803	c.5612_5613insG	c.(5611-5613)ggcfs	p.G1871fs	ACACA_ENST00000353139.5_Frame_Shift_Ins_p.G1908fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.G1813fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.G1793fs|ACACA_ENST00000361253.5_5'UTR	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5722-5724)gatfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35487100_35487101insC	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5613dupG	17.37:g.35487106_35487106dupC	ENSP00000377928:p.Gly1871fs		Somatic				ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs	p.D1908fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			46	6204_6205	-		Breast(25;0.00157)|Ovarian(249;0.15)	1871			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.5723_5724insG	CCDS11317.1																																																																																				0.495	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		14	1737						14	1737	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2850)ccatgtfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs		Somatic				ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	p.C950fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			22	3328_3329	-		Breast(25;0.00157)|Ovarian(249;0.15)	913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2847_2848insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		50	3612						50	3612	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)cagfs	p.Q521fs	HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.Q495fs|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1561-1563)gtafs		HNF1 homeobox B																																				SO:0001589	frameshift_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36059173_36059174insG	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1562dupC	17.37:g.36059180_36059180dupG	ENSP00000225893:p.Gln521fs		Somatic				HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	p.V521fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	WXS	Illumina GAIIx	Phase_I	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		8	1922_1923	-		Breast(25;0.00765)|Ovarian(249;0.15)	521					B4DKM3|E0YMJ9	Frame_Shift_Ins	INS	ENST00000225893.4	37	c.1561_1562insC	CCDS11324.1																																																																																				0.515	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		13	406						13	406	---	---	---	---
MRPL45	84311	broad.mit.edu	37	17	36478158	36478159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36478158_36478159insC	ENST00000312513.5	+	7	971_972	c.810_811insC	c.(811-813)cccfs	p.P271fs		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	271						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCCATGGGCACCCCCTAAGCA	0.515											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(808-813)gcccccfs		mitochondrial ribosomal protein L45																																				SO:0001589	frameshift_variant	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36478158_36478159insC	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.815dupC	17.37:g.36478163_36478163dupC	ENSP00000308901:p.Pro271fs		Somatic	OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863		p.AP270fs	NM_032351.4	NP_115727.4	WXS	Illumina GAIIx	Phase_I	Q9BRJ2	RM45_HUMAN			7	971_972	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	270					A1L436|Q6ZMJ5	Frame_Shift_Ins	INS	ENST00000312513.5	37	c.810_811insC	CCDS11326.1																																																																																				0.515	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		8	605						8	605	---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)gggtacfs	p.Y24fs	PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.Y24fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(67-72)ggacttfs		polycomb group ring finger 2																																				SO:0001589	frameshift_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896586_36896587insC	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.70dupG	17.37:g.36896592_36896592dupC	ENSP00000461961:p.Tyr24fs		Somatic				PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs	p.L24fs			WXS	Illumina GAIIx	Phase_I	P35227	PCGF2_HUMAN			4	770_771	-	Breast(7;9.07e-22)		24					A6NGD8	Frame_Shift_Ins	INS	ENST00000580830.1	37	c.69_70insG	CCDS32638.1																																																																																				0.629	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		18	1577						18	1577	---	---	---	---
PIP4K2B	8396	broad.mit.edu	37	17	36936833	36936834	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36936833_36936834insG	ENST00000269554.3	-	4	858_859	c.378_379insC	c.(376-381)cccatcfs	p.I127fs	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	127	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TCACTGTTGATGGGGGCGCTGC	0.574																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(376-381)cctcaafs		phosphatidylinositol-5-phosphate 4-kinase, type II, beta																																				SO:0001589	frameshift_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36936833_36936834insG	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.379dupC	17.37:g.36936838_36936838dupG	ENSP00000269554:p.Ile127fs		Somatic				PIP4K2B_ENST00000311500.6_5'UTR	p.Q127fs	NM_003559.4	NP_003550.1	WXS	Illumina GAIIx	Phase_I	P78356	PI42B_HUMAN			4	858_859	-			127			PIPK.		Q5U0E8|Q8TBP2	Frame_Shift_Ins	INS	ENST00000269554.3	37	c.378_379insC	CCDS11329.1																																																																																				0.574	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		8	1263						8	1263	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566764	37566765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:37566764_37566765insC	ENST00000300651.6	-	17	1932_1933	c.1709_1710insG	c.(1708-1710)ggtfs	p.G570fs	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGTAATGGGACCCCCCGGAAA	0.535										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1708-1710)gccfs		mediator complex subunit 1																																				SO:0001589	frameshift_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566764_37566765insC	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1710dupG	17.37:g.37566770_37566770dupC	ENSP00000300651:p.Gly570fs	HNSCC(31;0.082)	Somatic				MED1_ENST00000394287.3_Intron	p.A570fs	NM_004774.3	NP_004765.2	WXS	Illumina GAIIx	Phase_I	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	1932_1933	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	570			Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Ins	INS	ENST00000300651.6	37	c.1709_1710insG	CCDS11336.1																																																																																				0.535	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		9	668						9	668	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627837	37627838	+	Frame_Shift_Ins	INS	-	-	C	rs145450451	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:37627837_37627838insC	ENST00000447079.4	+	2	1785_1786	c.1752_1753insC	c.(1753-1755)cccfs	p.P585fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.P585fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	585					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTTCAACTTTGCCCCCTTCTAC	0.505			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1750-1755)ttccccfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627837_37627838insC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1757dupC	17.37:g.37627842_37627842dupC	ENSP00000398880:p.Pro585fs	TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.FP584fs	p.FP584fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			2	1785_1786	+			584					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.1752_1753insC	CCDS11337.1																																																																																				0.505	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	511						9	511	---	---	---	---
GSDMA	284110	broad.mit.edu	37	17	38133118	38133119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38133118_38133119insC	ENST00000301659.4	+	12	1263_1264	c.1145_1146insC	c.(1144-1149)ttccccfs	p.FP382fs		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	382					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GAGGGTGTTTTCCCCCTGCAAC	0.559																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1144-1146)tccfs		gasdermin A																																				SO:0001589	frameshift_variant	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133118_38133119insC	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1150dupC	17.37:g.38133123_38133123dupC	ENSP00000301659:p.Phe382fs		Somatic					p.S382fs	NM_178171.4	NP_835465.2	WXS	Illumina GAIIx	Phase_I	Q96QA5	GSDMA_HUMAN			12	1263_1264	+			382					Q32MC5|Q86VE7|Q8N1M6	Frame_Shift_Ins	INS	ENST00000301659.4	37	c.1145_1146insC	CCDS45669.1																																																																																				0.559	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		7	1075						7	1075	---	---	---	---
MED24	9862	broad.mit.edu	37	17	38179524	38179525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38179524_38179525insG	ENST00000394128.2	-	20	2190_2191	c.2109_2110insC	c.(2107-2112)cccaagfs	p.K704fs	MED24_ENST00000501516.3_Frame_Shift_Ins_p.K723fs|MED24_ENST00000356271.3_Frame_Shift_Ins_p.K691fs|MED24_ENST00000394127.2_Frame_Shift_Ins_p.K691fs|MED24_ENST00000394126.1_Frame_Shift_Ins_p.K729fs	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	704					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ATGGGCCGCTTGGGGGGCAGCA	0.604																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2182-2187)ccagcgfs		mediator complex subunit 24																																				SO:0001589	frameshift_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38179524_38179525insG	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2110dupC	17.37:g.38179530_38179530dupG	ENSP00000377686:p.Lys704fs		Somatic				MED24_ENST00000394128.2_Frame_Shift_Ins_p.A704fs|MED24_ENST00000394127.2_Frame_Shift_Ins_p.A691fs|MED24_ENST00000501516.3_Frame_Shift_Ins_p.A723fs|MED24_ENST00000356271.3_Frame_Shift_Ins_p.A691fs	p.A729fs			WXS	Illumina GAIIx	Phase_I	O75448	MED24_HUMAN			19	2602_2603	-	Colorectal(19;0.000442)		704					A8K4S5|B3KMR9|Q14143|Q9NNY5	Frame_Shift_Ins	INS	ENST00000394128.2	37	c.2184_2185insC	CCDS11359.1																																																																																				0.604	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		18	497						18	497	---	---	---	---
CASC3	22794	broad.mit.edu	37	17	38323810	38323811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38323810_38323811insC	ENST00000264645.7	+	9	1822_1823	c.1596_1597insC	c.(1597-1599)cccfs	p.P533fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	533	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTGTGCCAGAGCCCCCCGCCCC	0.5																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1594-1599)gaccccfs		cancer susceptibility candidate 3																																				SO:0001589	frameshift_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38323810_38323811insC	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1602dupC	17.37:g.38323816_38323816dupC	ENSP00000264645:p.Pro533fs		Somatic					p.DP532fs	NM_007359.4	NP_031385.2	WXS	Illumina GAIIx	Phase_I	O15234	CASC3_HUMAN			9	1822_1823	+			532			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Frame_Shift_Ins	INS	ENST00000264645.7	37	c.1596_1597insC	CCDS11362.1																																																																																				0.500	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		8	475						8	475	---	---	---	---
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)gggaacfs	p.N239fs		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.48																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(712-717)ggacgtfs		keratin 26																																				SO:0001589	frameshift_variant	353288					intermediate filament	structural molecule activity	g.chr17:38926341_38926342insC	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.715dupG	17.37:g.38926347_38926347dupC	ENSP00000334798:p.Asn239fs		Somatic					p.R239fs	NM_181539.4	NP_853517.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Y9	K1C26_HUMAN			4	762_763	-		Breast(137;0.00526)	239			Linker 12.|Rod.			Frame_Shift_Ins	INS	ENST00000335552.4	37	c.714_715insG	CCDS11374.1																																																																																				0.480	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		14	1069						14	1069	---	---	---	---
JUP	3728	broad.mit.edu	37	17	39923834	39923835	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:39923834_39923835insG	ENST00000393931.3	-	5	826		c.e5-2		JUP_ENST00000540235.1_Splice_Site|JUP_ENST00000310706.5_Splice_Site|JUP_ENST00000393930.1_Splice_Site	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin						adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACAGGGGAGCTGGGGGGGTGGG	0.658																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.e5-2		junction plakoglobin																																				SO:0001630	splice_region_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39923834_39923835insG	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.708-2->C	17.37:g.39923841_39923841dupG			Somatic				JUP_ENST00000393930.1_Splice_Site|JUP_ENST00000310706.5_Splice_Site|JUP_ENST00000540235.1_Splice_Site		NM_002230.2	NP_002221.1	WXS	Illumina GAIIx	Phase_I	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	5	826	-		Breast(137;0.000162)						Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Splice_Site	INS	ENST00000393931.3	37		CCDS11407.1																																																																																				0.658	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		Intron	16	217						16	217	---	---	---	---
ACLY	47	broad.mit.edu	37	17	40065882	40065883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40065882_40065883insC	ENST00000352035.2	-	5	546_547	c.416_417insG	c.(415-417)ggtfs	p.G139fs	ACLY_ENST00000590151.1_Frame_Shift_Ins_p.G139fs|ACLY_ENST00000393896.2_Frame_Shift_Ins_p.G139fs|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Frame_Shift_Ins_p.G139fs	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	139	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCACGTCCACACCCCCCTCGTG	0.554																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(415-417)ggtfs		ATP citrate lyase																																				SO:0001589	frameshift_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40065882_40065883insC	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.417dupG	17.37:g.40065888_40065888dupC	ENSP00000253792:p.Gly139fs		Somatic				ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Frame_Shift_Ins_p.G139fs|ACLY_ENST00000590151.1_Frame_Shift_Ins_p.G139fs|ACLY_ENST00000353196.1_Frame_Shift_Ins_p.G139fs	p.G139fs	NM_001096.2	NP_001087.2	WXS	Illumina GAIIx	Phase_I	P53396	ACLY_HUMAN			5	546_547	-		Breast(137;0.000143)	139					B4DIM0|B4E3P0|Q13037|Q9BRL0	Frame_Shift_Ins	INS	ENST00000352035.2	37	c.416_417insG	CCDS11412.1																																																																																				0.554	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		7	496						7	496	---	---	---	---
DNAJC7	7266	broad.mit.edu	37	17	40128762	40128763	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40128762_40128763insA	ENST00000457167.4	-	14	1709_1710	c.1473_1474insT	c.(1471-1476)tttcaafs	p.Q492fs	CNP_ENST00000393892.3_3'UTR|DNAJC7_ENST00000426588.3_Frame_Shift_Ins_p.Q436fs|DNAJC7_ENST00000316603.7_Frame_Shift_Ins_p.Q436fs	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	492					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TAGCCAAATTGAAAAAAGAAAT	0.416																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1471-1476)ttaattfs		DnaJ (Hsp40) homolog, subfamily C, member 7																																				SO:0001589	frameshift_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40128762_40128763insA	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1474dupT	17.37:g.40128768_40128768dupA	ENSP00000406463:p.Gln492fs		Somatic				DNAJC7_ENST00000316603.7_Frame_Shift_Ins_p.LI435fs|RP11-229E13.2_ENST00000590979.1_RNA|DNAJC7_ENST00000426588.3_Frame_Shift_Ins_p.LI435fs	p.LI491fs	NM_003315.3	NP_003306.3	WXS	Illumina GAIIx	Phase_I	Q99615	DNJC7_HUMAN			14	1709_1710	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	491					Q7Z784	Frame_Shift_Ins	INS	ENST00000457167.4	37	c.1473_1474insT	CCDS45677.1																																																																																				0.416	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			7	746						7	746	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40315703	40315704	+	Frame_Shift_Ins	INS	-	-	G	rs568376100		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40315703_40315704insG	ENST00000264661.3	-	13	2729_2730	c.2397_2398insC	c.(2395-2400)cccaggfs	p.R800fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.R800fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	800					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCAGAGCACCTGGGGGGGCCGT	0.668																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(2395-2400)ccggtgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315703_40315704insG	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2398dupC	17.37:g.40315710_40315710dupG	ENSP00000264661:p.Arg800fs		Somatic				KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.V800fs	p.V800fs	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	13	2729_2730	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	800						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.2397_2398insC	CCDS11420.1																																																																																				0.668	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		8	127						8	127	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40467768	40467769	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40467768_40467769insG	ENST00000264657.5	-	24	2619_2620	c.2307_2308insC	c.(2305-2310)cccatgfs	p.M770fs	STAT3_ENST00000585517.1_3'UTR|STAT3_ENST00000588969.1_Frame_Shift_Ins_p.M770fs|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.M769fs|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.M672fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	770					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCTCCTCACATGGGGGAGGTAG	0.55									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2305-2310)cctgtgfs		signal transducer and activator of transcription 3 (acute-phase response factor)																																				SO:0001589	frameshift_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40467768_40467769insG	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2308dupC	17.37:g.40467773_40467773dupG	ENSP00000264657:p.Met770fs		Somatic				STAT3_ENST00000404395.3_Frame_Shift_Ins_p.V769fs|STAT3_ENST00000585517.1_3'UTR|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.V672fs|STAT3_ENST00000588969.1_Frame_Shift_Ins_p.V770fs	p.V770fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	24	2619_2620	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	770					A8K7B8|K7ENL3|O14916|Q9BW54	Frame_Shift_Ins	INS	ENST00000264657.5	37	c.2307_2308insC	CCDS32656.1																																																																																				0.550	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		11	1806						11	1806	---	---	---	---
TUBG1	7283	broad.mit.edu	37	17	40764471	40764472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40764471_40764472insG	ENST00000251413.3	+	5	488_489	c.426_427insG	c.(427-429)gggfs	p.G143fs	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	143					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACTCCATTGCTGGGGGGACAGG	0.505																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(424-429)gcggggfs		tubulin, gamma 1																																				SO:0001589	frameshift_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40764471_40764472insG	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.432dupG	17.37:g.40764477_40764477dupG	ENSP00000251413:p.Gly143fs		Somatic					p.AG142fs	NM_001070.4	NP_001061.2	WXS	Illumina GAIIx	Phase_I	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	488_489	+		Breast(137;0.00116)	142					Q53X79|Q9BW59	Frame_Shift_Ins	INS	ENST00000251413.3	37	c.426_427insG	CCDS11433.1																																																																																				0.505	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		11	961						11	961	---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)cccagafs	p.R134fs	ETV4_ENST00000591713.1_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(397-402)ccgacafs		ets variant 4																																				SO:0001589	frameshift_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610700_41610701insG	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.400dupC	17.37:g.41610707_41610707dupG	ENSP00000321835:p.Arg134fs		Somatic				ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs	p.T134fs	NM_001079675.2	NP_001073143.1	WXS	Illumina GAIIx	Phase_I	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	7	697_698	-		Breast(137;0.00908)	134					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Frame_Shift_Ins	INS	ENST00000319349.5	37	c.399_400insC	CCDS11465.1																																																																																				0.579	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		28	441						28	441	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(643-645)cccfs		CD300 molecule-like family member g																																				SO:0001589	frameshift_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931337_41931338insC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs		Somatic				CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs	p.P215fs	NM_145273.3	NP_660316.2	WXS	Illumina GAIIx	Phase_I	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	685_686	+		Breast(137;0.0199)	215					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	ENST00000317310.4	37	c.644_645insC	CCDS11470.1																																																																																				0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		19	280						19	280	---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41960363	41960364	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41960363_41960364insG	ENST00000461854.1	-	6	517_518	c.432_433insC	c.(430-435)cccagcfs	p.S145fs	MPP2_ENST00000523501.1_Frame_Shift_Ins_p.S110fs|MPP2_ENST00000518766.1_Frame_Shift_Ins_p.S166fs|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000269095.4_Frame_Shift_Ins_p.S121fs|MPP2_ENST00000377184.3_Frame_Shift_Ins_p.S138fs|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000536246.1_Frame_Shift_Ins_p.S110fs			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	145					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCCAGGGCTGGGGGGTGGTG	0.624																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(358-363)ccgcccfs		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)																																				SO:0001589	frameshift_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41960363_41960364insG		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.433dupC	17.37:g.41960369_41960369dupG	ENSP00000428286:p.Ser145fs		Somatic				MPP2_ENST00000518766.1_Frame_Shift_Ins_p.P166fs|MPP2_ENST00000461854.1_Frame_Shift_Ins_p.P145fs|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000377184.3_Frame_Shift_Ins_p.P138fs|MPP2_ENST00000536246.1_Frame_Shift_Ins_p.P110fs|MPP2_ENST00000523501.1_Frame_Shift_Ins_p.P110fs|MPP2_ENST00000520305.1_5'UTR	p.P121fs	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	WXS	Illumina GAIIx	Phase_I	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	664_665	-		Breast(137;0.00314)	145			L27 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Frame_Shift_Ins	INS	ENST00000461854.1	37	c.360_361insC																																																																																					0.624	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		7	185						7	185	---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42157800	42157801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42157800_42157801insG	ENST00000393622.2	-	22	3124_3125	c.2793_2794insC	c.(2791-2796)cccattfs	p.I932fs	HDAC5_ENST00000225983.6_Frame_Shift_Ins_p.I933fs|HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.I932fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.I847fs	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	932	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCCA	0.609																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2794-2799)ccttggfs		histone deacetylase 5																																				SO:0001589	frameshift_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42157800_42157801insG	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2794dupC	17.37:g.42157807_42157807dupG	ENSP00000377244:p.Ile932fs		Somatic				HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.W847fs|HDAC5_ENST00000393622.2_Frame_Shift_Ins_p.W932fs	p.W933fs			WXS	Illumina GAIIx	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	22	3119_3120	-		Breast(137;0.00637)|Prostate(33;0.0313)	932			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Frame_Shift_Ins	INS	ENST00000393622.2	37	c.2796_2797insC	CCDS45696.1																																																																																				0.609	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		14	564						14	564	---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42225891	42225892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42225891_42225892insC	ENST00000319977.4	+	3	957_958	c.720_721insC	c.(721-723)cccfs	p.P241fs	C17orf53_ENST00000585683.1_Frame_Shift_Ins_p.P241fs|C17orf53_ENST00000245382.6_Frame_Shift_Ins_p.P241fs	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	241										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGACTCCACGACCCCCCTTGAG	0.574																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(718-723)cgccccfs		chromosome 17 open reading frame 53																																				SO:0001589	frameshift_variant	78995							g.chr17:42225891_42225892insC	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.726dupC	17.37:g.42225897_42225897dupC	ENSP00000313500:p.Pro241fs		Somatic				C17orf53_ENST00000585683.1_Frame_Shift_Ins_p.RP240fs|C17orf53_ENST00000245382.6_Frame_Shift_Ins_p.RP240fs	p.RP240fs	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	WXS	Illumina GAIIx	Phase_I	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	957_958	+		Breast(137;0.0364)|Prostate(33;0.0376)	240					A8K7A9|Q9BWM9|Q9HAI1	Frame_Shift_Ins	INS	ENST00000319977.4	37	c.720_721insC	CCDS11477.1																																																																																				0.574	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		8	916						8	916	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42475936	42475937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42475936_42475937insC	ENST00000591680.1	-	8	3538_3539	c.3508_3509insG	c.(3508-3510)gaafs	p.E1170fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.E1092fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1170							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCTTGCTCTTCCCCCCTTTCC	0.525																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3274-3276)agafs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475936_42475937insC	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3509dupG	17.37:g.42475942_42475942dupC	ENSP00000467556:p.Glu1170fs		Somatic				GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R1170fs	p.R1092fs			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3556_3557	-		Prostate(33;0.0181)	1170					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.3274_3275insG	CCDS32666.1																																																																																				0.525	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	752						7	752	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478248	42478249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42478248_42478249insG	ENST00000591680.1	-	8	1226_1227	c.1196_1197insC	c.(1195-1197)ccafs	p.P399fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.P321fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	399							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCAGTGTGCTGGGGGGATGTA	0.441											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(961-963)cgcfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478248_42478249insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1197dupC	17.37:g.42478254_42478254dupG	ENSP00000467556:p.Pro399fs		Somatic	OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs	p.R321fs			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	1244_1245	-		Prostate(33;0.0181)	399					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.962_963insC	CCDS32666.1																																																																																				0.441	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		9	953						9	953	---	---	---	---
MAP3K14	9020	broad.mit.edu	37	17	43350838	43350839	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:43350838_43350839insG	ENST00000344686.2	-	0	1763							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAATGCATTGGGGGGCACGG	0.554																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14																																						9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43350838_43350839insG	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43350844_43350844dupG			Somatic								WXS	Illumina GAIIx	Phase_I	Q99558	M3K14_HUMAN			0	1763	-								A8K2D8|D3DX67|Q8IYN1	RNA	INS	ENST00000344686.2	37																																																																																						0.554	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		13	431						13	431	---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44039780	44039781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:44039780_44039781insG	ENST00000571987.1	+	1	77_78	c.77_78insG	c.(76-81)caggggfs	p.QG26fs	MAPT_ENST00000420682.2_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000351559.5_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000431008.3_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000535772.1_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000344290.5_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000415613.2_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000574436.1_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000446361.3_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000262410.5_Frame_Shift_Ins_p.QG26fs|MAPT_ENST00000334239.8_Frame_Shift_Ins_p.QG26fs			P10636	TAU_HUMAN	microtubule-associated protein tau	26					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AGGAAAGATCAGGGGGGCTACA	0.589																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(76-78)cggfs		microtubule-associated protein tau																																				SO:0001589	frameshift_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44039780_44039781insG	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.83dupG	17.37:g.44039786_44039786dupG	ENSP00000458742:p.Gln26fs		Somatic				MAPT_ENST00000571987.1_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000574436.1_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000334239.8_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000535772.1_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000446361.3_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000262410.5_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000431008.3_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000420682.2_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000415613.2_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000351559.5_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000340799.5_Frame_Shift_Ins_p.R26fs	p.R26fs	NM_001123066.3	NP_001116538.2	WXS	Illumina GAIIx	Phase_I	P10636	TAU_HUMAN			2	399_400	+		Melanoma(429;0.216)	26					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Frame_Shift_Ins	INS	ENST00000571987.1	37	c.77_78insG	CCDS11501.1																																																																																				0.589	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		9	517						9	517	---	---	---	---
KPNB1	3837	broad.mit.edu	37	17	45754489	45754490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45754489_45754490insG	ENST00000290158.4	+	17	2506_2507	c.2099_2100insG	c.(2098-2103)ttggggfs	p.LG700fs	KPNB1_ENST00000535458.2_Frame_Shift_Ins_p.LG555fs|KPNB1_ENST00000540627.1_Frame_Shift_Ins_p.LG555fs|KPNB1_ENST00000537679.1_Frame_Shift_Ins_p.LG484fs	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	700					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTGGAAAATTTGGGGGTGAGTA	0.47																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2098-2100)tggfs		karyopherin (importin) beta 1																																				SO:0001589	frameshift_variant	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45754489_45754490insG	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2103dupG	17.37:g.45754494_45754494dupG	ENSP00000290158:p.Leu700fs		Somatic				KPNB1_ENST00000540627.1_Frame_Shift_Ins_p.W555fs|KPNB1_ENST00000537679.1_Frame_Shift_Ins_p.W484fs|KPNB1_ENST00000535458.2_Frame_Shift_Ins_p.W555fs	p.W700fs	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	WXS	Illumina GAIIx	Phase_I	Q14974	IMB1_HUMAN			17	2506_2507	+			700					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Frame_Shift_Ins	INS	ENST00000290158.4	37	c.2099_2100insG	CCDS11513.1																																																																																				0.470	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		10	540						10	540	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)cccgacfs	p.D729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.D729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619																																						ENST00000007414.3																			1	Insertion - Frameshift(1)	p.D729fs*3(1)	lung(1)	autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2182-2187)ccaccafs		oxysterol binding protein-like 7																																				SO:0001589	frameshift_variant	114881				lipid transport		lipid binding	g.chr17:45886342_45886343insG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2185dupC	17.37:g.45886348_45886348dupG	ENSP00000007414:p.Asp729fs		Somatic				OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	p.P729fs	NM_145798.2	NP_665741.1	WXS	Illumina GAIIx	Phase_I	Q9BZF2	OSBL7_HUMAN			21	2375_2376	-			729					D3DTT6|Q6PIV6	Frame_Shift_Ins	INS	ENST00000007414.3	37	c.2184_2185insC	CCDS11515.1																																																																																				0.619	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		15	758						15	758	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45905873_45905874insG	ENST00000351111.2	-	2	220_221	c.215_216insC	c.(214-216)ccafs	p.P72fs	MRPL10_ENST00000290208.7_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(244-246)ccafs		mitochondrial ribosomal protein L10			,	0,4264		0,0,2132					,	-10.1	0.0			44	1,8253		0,1,4126	no	frameshift,frameshift	MRPL10	NM_148887.2,NM_145255.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905873_45905874insG	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.216dupC	17.37:g.45905879_45905879dupG	ENSP00000324100:p.Pro72fs		Somatic				MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	p.P82fs			WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			2	697_698	-			72					A6NGJ4|Q96B80|Q96Q55	Frame_Shift_Ins	INS	ENST00000351111.2	37	c.245_246insC	CCDS11516.1																																																																																				0.525	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		8	501						8	501	---	---	---	---
SCRN2	90507	broad.mit.edu	37	17	45916928	45916929	+	Frame_Shift_Ins	INS	-	-	C	rs369499482		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45916928_45916929insC	ENST00000290216.9	-	4	562_563	c.437_438insG	c.(436-438)ggcfs	p.G146fs	SCRN2_ENST00000584123.1_Frame_Shift_Ins_p.G154fs|SCRN2_ENST00000407215.3_Frame_Shift_Ins_p.G146fs	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	146						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCAGGCAGTTGCCCCCCTGCCC	0.619																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(436-438)gaafs		secernin 2																																				SO:0001589	frameshift_variant	90507				proteolysis		dipeptidase activity	g.chr17:45916928_45916929insC	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.438dupG	17.37:g.45916934_45916934dupC	ENSP00000290216:p.Gly146fs		Somatic				SCRN2_ENST00000584123.1_Frame_Shift_Ins_p.E154fs|SCRN2_ENST00000290216.9_Frame_Shift_Ins_p.E146fs	p.E146fs			WXS	Illumina GAIIx	Phase_I	Q96FV2	SCRN2_HUMAN			4	518_519	-			146					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Frame_Shift_Ins	INS	ENST00000290216.9	37	c.437_438insG	CCDS11519.1																																																																																				0.619	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		7	1089						7	1089	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994141	45994142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45994141_45994142insC	ENST00000376741.4	+	3	841_842	c.704_705insC	c.(703-708)agccccfs	p.SP235fs	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	235					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTCACTGAAAGCCCCCCAACCC	0.609																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(703-705)accfs		Sp2 transcription factor																																				SO:0001589	frameshift_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994141_45994142insC		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.710dupC	17.37:g.45994147_45994147dupC	ENSP00000365931:p.Ser235fs		Somatic				AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	p.T235fs	NM_003110.5	NP_003101.3	WXS	Illumina GAIIx	Phase_I	Q02086	SP2_HUMAN			3	841_842	+			235					A6NK74	Frame_Shift_Ins	INS	ENST00000376741.4	37	c.704_705insC	CCDS11521.2																																																																																				0.609	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		8	434						8	434	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46135997	46135998	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:46135997_46135998insG	ENST00000362042.3	+	6	1929_1930	c.1313_1314insG	c.(1312-1317)ttggggfs	p.LG438fs	NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.LG282fs|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.LG250fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.LG427fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.LG408fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.LG239fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.LG408fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	438					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGACCCTTTGGGGGGTCTGT	0.564																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1312-1314)tggfs		nuclear factor, erythroid 2-like 1																																				SO:0001589	frameshift_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46135997_46135998insG	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1319dupG	17.37:g.46136003_46136003dupG	ENSP00000354855:p.Leu438fs		Somatic				NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.W250fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.W408fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.W239fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.W282fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.W427fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.W408fs	p.W438fs	NM_003204.2	NP_003195.1	WXS	Illumina GAIIx	Phase_I	Q14494	NF2L1_HUMAN			6	1929_1930	+			438					D3DTU3|D3DTU5|Q12877|Q96FN6	Frame_Shift_Ins	INS	ENST00000362042.3	37	c.1313_1314insG	CCDS11524.1																																																																																				0.564	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		11	723						11	723	---	---	---	---
PDK2	5164	broad.mit.edu	37	17	48186051	48186052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48186051_48186052insC	ENST00000503176.1	+	9	1098_1099	c.937_938insC	c.(937-939)accfs	p.T313fs	PDK2_ENST00000007708.3_Frame_Shift_Ins_p.T249fs	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	313	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CACAGCACCCACCCCCCAGCCT	0.609									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(937-939)cccfs		pyruvate dehydrogenase kinase, isozyme 2																																				SO:0001589	frameshift_variant	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48186051_48186052insC	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.943dupC	17.37:g.48186057_48186057dupC	ENSP00000420927:p.Thr313fs		Somatic				PDK2_ENST00000007708.3_Frame_Shift_Ins_p.P249fs	p.P313fs	NM_002611.4	NP_002602.2	WXS	Illumina GAIIx	Phase_I	Q15119	PDK2_HUMAN			9	1098_1099	+			313			Histidine kinase.		A8K3A7|B3KNW0|Q6P515|Q9BS05	Frame_Shift_Ins	INS	ENST00000503176.1	37	c.937_938insC	CCDS11559.1																																																																																				0.609	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		8	258						8	258	---	---	---	---
SPATA20	64847	broad.mit.edu	37	17	48631813	48631814	+	Splice_Site	INS	-	-	G	rs182096575		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48631813_48631814insG	ENST00000356488.4	+	14	2192		c.e14+2		CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000006658.6_Splice_Site|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA|SPATA20_ENST00000393244.3_Splice_Site|SPATA20_ENST00000511937.1_Splice_Site	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTCAAGCAGGTGGGGGGTGAGG	0.668																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.e15+2		spermatogenesis associated 20																																				SO:0001630	splice_region_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631813_48631814insG		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2109+2->G	17.37:g.48631819_48631819dupG			Somatic				SPATA20_ENST00000393244.3_Splice_Site|SPATA20_ENST00000356488.4_Splice_Site|SPATA20_ENST00000511937.1_Splice_Site		NM_022827.3	NP_073738.2	WXS	Illumina GAIIx	Phase_I	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		15	2277	+	Breast(11;1.23e-18)							Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Splice_Site	INS	ENST00000356488.4	37		CCDS58563.1																																																																																				0.668	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827	Intron	7	551						7	551	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		51	2137						51	2137	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56272510	56272511	+	Frame_Shift_Ins	INS	-	-	C	rs149721417|rs202146551		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:56272510_56272511insC	ENST00000225371.5	+	6	890_891	c.780_781insC	c.(781-783)cccfs	p.P261fs		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	261					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GCGCCCAGCTGCCCCCCTGCTT	0.629																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(778-783)ctccccfs		eosinophil peroxidase																																				SO:0001589	frameshift_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56272510_56272511insC	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.786dupC	17.37:g.56272516_56272516dupC	ENSP00000225371:p.Pro261fs		Somatic					p.LP260fs	NM_000502.4	NP_000493.1	WXS	Illumina GAIIx	Phase_I	P11678	PERE_HUMAN			6	890_891	+			260					Q4TVP3	Frame_Shift_Ins	INS	ENST00000225371.5	37	c.780_781insC	CCDS11602.1																																																																																				0.629	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		14	577						14	577	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs		Somatic				MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		86	1525						86	1525	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590284	56590285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:56590284_56590285insG	ENST00000323456.5	-	3	145_146	c.21_22insC	c.(19-24)cccagcfs	p.S8fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.S8fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	8					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACTCCAGGCTGGGGGGCCCCT	0.559																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(19-24)ccgcctfs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590284_56590285insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.22dupC	17.37:g.56590290_56590290dupG	ENSP00000325285:p.Ser8fs		Somatic				MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.P8fs	p.P8fs	NM_004687.4	NP_004678.3	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			3	145_146	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		8					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.21_22insC	CCDS11608.1																																																																																				0.559	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		7	1500						7	1500	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs		Somatic				MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA	p.I321fs			WXS	Illumina GAIIx	Phase_I	Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		11	1482						11	1482	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Splice_Site	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGTGTACCTGGGGGGGAGAG	0.589																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e4-2		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)																																			SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049212_62049213insG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.483-2->C	17.37:g.62049219_62049219dupG			Somatic				SCN4A_ENST00000578147.1_Splice_Site		NM_000334.4	NP_000325.4	WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			4	559	-								Q15478|Q16447|Q7Z6B1	Splice_Site	INS	ENST00000435607.1	37		CCDS45761.1																																																																																				0.589	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Intron	10	250						10	250	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C	rs267606674		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:63532584_63532585insC	ENST00000375702.5	-	6	1907_1908	c.1799_1800insG	c.(1798-1800)ggcfs	p.G600fs	AXIN2_ENST00000307078.5_Frame_Shift_Ins_p.G665fs			Q9Y2T1	AXIN2_HUMAN	axin 2	640				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34	GRCh37	CI002733	AXIN2	I		c.(1993-1995)gaafs		axin 2																																				SO:0001589	frameshift_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532584_63532585insC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1800dupG	17.37:g.63532591_63532591dupC	ENSP00000364854:p.Gly600fs		Somatic				AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	p.E665fs	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			8	2307_2308	-			665					Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Ins	INS	ENST00000375702.5	37	c.1994_1995insG																																																																																					0.658	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		21	218						21	218	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66270149	66270150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:66270149_66270150insC	ENST00000327268.4	-	4	458_459	c.294_295insG	c.(292-297)gggctafs	p.L99fs	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.L99fs	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	99					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(292-297)ggtactfs		solute carrier family 16, member 6	Pyruvic acid(DB00119)		,,	8,4256		0,8,2124					,,	-0.3	0.2			77	7,8247		0,7,4120	no	intron,frameshift,frameshift	SLC16A6,ARSG	NM_014960.3,NM_004694.4,NM_001174166.1	,,	0,15,6244	A1A1,A1R,RR		0.0848,0.1876,0.1198	,,	,,		15,12503				SO:0001589	frameshift_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66270149_66270150insC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.295dupG	17.37:g.66270156_66270156dupC	ENSP00000319991:p.Leu99fs		Somatic				SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.T99fs|ARSG_ENST00000448504.2_Intron	p.T99fs	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	458_459	-	all_cancers(12;1.24e-09)		99					Q6P1X3	Frame_Shift_Ins	INS	ENST00000327268.4	37	c.294_295insG	CCDS11675.1																																																																																				0.535	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		11	176						11	176	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		31	1239						31	1239	---	---	---	---
KCNJ16	3773	broad.mit.edu	37	17	68129234	68129235	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:68129234_68129235insC	ENST00000589377.1	+	2	1169_1170	c.1006_1007insC	c.(1006-1008)gccfs	p.A336fs	KCNJ16_ENST00000283936.1_Frame_Shift_Ins_p.A336fs|KCNJ16_ENST00000392671.1_Frame_Shift_Ins_p.A336fs|KCNJ16_ENST00000586462.1_Frame_Shift_Ins_p.A375fs|KCNJ16_ENST00000392670.1_Frame_Shift_Ins_p.A336fs|KCNJ16_ENST00000585558.1_Frame_Shift_Ins_p.A371fs	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	336					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GGAAGTATATGCCCCCTTTTGC	0.46																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(1111-1113)cccfs		potassium inwardly-rectifying channel, subfamily J, member 16																																				SO:0001589	frameshift_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129234_68129235insC	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.1011dupC	17.37:g.68129239_68129239dupC	ENSP00000465967:p.Ala336fs		Somatic				KCNJ16_ENST00000283936.1_Frame_Shift_Ins_p.P336fs|KCNJ16_ENST00000586462.1_Frame_Shift_Ins_p.P375fs|KCNJ16_ENST00000392670.1_Frame_Shift_Ins_p.P336fs|KCNJ16_ENST00000589377.1_Frame_Shift_Ins_p.P336fs|KCNJ16_ENST00000392671.1_Frame_Shift_Ins_p.P336fs	p.P371fs			WXS	Illumina GAIIx	Phase_I	Q9NPI9	IRK16_HUMAN			4	1499_1500	+	Breast(10;2.96e-09)		336						Frame_Shift_Ins	INS	ENST00000589377.1	37	c.1111_1112insC	CCDS11687.1																																																																																				0.460	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		8	838						8	838	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs		Somatic				FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR	p.D90fs	NM_001098832.1	NP_001092302.1	WXS	Illumina GAIIx	Phase_I	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		20	351						20	351	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71228436	71228437	+	Frame_Shift_Ins	INS	-	-	C	rs201327693	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:71228436_71228437insC	ENST00000403627.3	-	1	69_70	c.9_10insG	c.(7-12)gggcgcfs	p.R4fs	C17orf80_ENST00000255557.4_5'UTR|C17orf80_ENST00000268942.8_5'Flank|C17orf80_ENST00000577615.1_5'Flank|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_5'Flank|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000535032.2_5'Flank|C17orf80_ENST00000426147.2_5'Flank|FAM104A_ENST00000583024.1_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000581110.1_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000359042.2_5'Flank	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	4								p.R4fs*8(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGCTCCGCGCCCCCCCATGT	0.723																																						ENST00000405159.3																			1	Insertion - Frameshift(1)	p.R4fs*8(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(7-12)gggcggfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71228436_71228437insC	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.10dupG	17.37:g.71228443_71228443dupC	ENSP00000384648:p.Arg4fs		Somatic				FAM104A_ENST00000581110.1_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000583024.1_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000583178.1_Intron	p.R4fs	NM_001098832.1	NP_001092302.1	WXS	Illumina GAIIx	Phase_I	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	73_74	-			4					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.9_10insG	CCDS11693.2																																																																																				0.723	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		9	61						9	61	---	---	---	---
RPL38	6169	broad.mit.edu	37	17	72205441	72205442	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:72205441_72205442insC	ENST00000311111.6	+	4	311_312	c.180_181insC	c.(181-183)cccfs	p.P61fs	CTD-2514K5.2_ENST00000532794.1_RNA|RPL38_ENST00000439590.2_Frame_Shift_Ins_p.P61fs|RPL38_ENST00000534490.1_Frame_Shift_Ins_p.P61fs|CTD-2514K5.2_ENST00000499670.2_RNA|RPL38_ENST00000584577.1_Frame_Shift_Ins_p.P61fs|RPL38_ENST00000533498.1_Frame_Shift_Ins_p.P61fs			P63173	RL38_HUMAN	ribosomal protein L38	61					90S preribosome assembly (GO:0034463)|axial mesoderm development (GO:0048318)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|middle ear morphogenesis (GO:0042474)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ossification (GO:0001503)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|eukaryotic 80S initiation complex (GO:0033291)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|pancreas(1)	2						AGCAGTCCCTGCCCCCCGGTGA	0.49																																						ENST00000311111.6																			0				large_intestine(1)|pancreas(1)	2						c.(178-183)ctccccfs		ribosomal protein L38																																				SO:0001589	frameshift_variant	6169				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr17:72205441_72205442insC	AB007185	CCDS11696.1	17q25.1	2013-06-19			ENSG00000172809	ENSG00000172809		"""L ribosomal proteins"""	10349	protein-coding gene	gene with protein product		604182				9582194	Standard	NM_000999		Approved	L38	uc002jka.3	P63173	OTTHUMG00000166016	ENST00000311111.6:c.186dupC	17.37:g.72205447_72205447dupC	ENSP00000309830:p.Pro61fs		Somatic				RPL38_ENST00000534490.1_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000584577.1_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000439590.2_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000533498.1_Frame_Shift_Ins_p.LP60fs	p.LP60fs			WXS	Illumina GAIIx	Phase_I	P63173	RL38_HUMAN			4	311_312	+			60					B2R5A8|P23411	Frame_Shift_Ins	INS	ENST00000311111.6	37	c.180_181insC	CCDS11696.1																																																																																				0.490	RPL38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387450.2	NM_000999		8	444						8	444	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72277937	72277938	+	5'UTR	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:72277937_72277938insC	ENST00000446837.2	+	0	287_288				DNAI2_ENST00000582036.1_Intron|DNAI2_ENST00000311014.6_Intron|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000579490.1_Frame_Shift_Ins_p.CP51fs			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2						cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCTCCCTCTGCCCCCCAGCAG	0.629									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(151-153)tccfs		dynein, axonemal, intermediate chain 2																																				SO:0001623	5_prime_UTR_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72277937_72277938insC	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000446837.2:c.-19->C	17.37:g.72277943_72277943dupC			Somatic				DNAI2_ENST00000446837.2_5'UTR|DNAI2_ENST00000582036.1_Intron|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000311014.6_Intron	p.S51fs			WXS	Illumina GAIIx	Phase_I	Q9GZS0	DNAI2_HUMAN			1	287_288	+			0					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Frame_Shift_Ins	INS	ENST00000446837.2	37	c.152_153insC	CCDS11697.1																																																																																				0.629	DNAI2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_023036		7	532						7	532	---	---	---	---
GRB2	2885	broad.mit.edu	37	17	73316466	73316467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:73316466_73316467insG	ENST00000392562.1	-	6	1418_1419	c.636_637insC	c.(634-639)cccgtgfs	p.V213fs	GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.V213fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.V172fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.V172fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.P156fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.V213fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	213	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.P212P(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTCCGGTTCACGGGGGTGACAT	0.455																																						ENST00000392562.1																			2	Substitution - coding silent(2)	p.P212P(2)	lung(2)	breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(634-639)cctgaafs		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)																																			SO:0001589	frameshift_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73316466_73316467insG		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.637dupC	17.37:g.73316471_73316471dupG	ENSP00000376345:p.Val213fs		Somatic				GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.L156fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.E172fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.E213fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.E213fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.E172fs	p.E213fs			WXS	Illumina GAIIx	Phase_I	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		6	1418_1419	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		213			SH3 2.		P29354|Q14450|Q63057|Q63059	Frame_Shift_Ins	INS	ENST00000392562.1	37	c.636_637insC	CCDS11721.1																																																																																				0.455	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			8	2206						8	2206	---	---	---	---
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)gacfs	p.D23fs	GRB2_ENST00000392564.1_Frame_Shift_Ins_p.D23fs|RP11-16C1.1_ENST00000578226.1_RNA|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.D23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.53																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(67-69)catfs		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)																																			SO:0001589	frameshift_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73389642_73389643insC		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.68dupG	17.37:g.73389648_73389648dupC	ENSP00000376345:p.Asp23fs		Somatic				GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs	p.H23fs			WXS	Illumina GAIIx	Phase_I	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		2	849_850	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		23			SH3 1.		P29354|Q14450|Q63057|Q63059	Frame_Shift_Ins	INS	ENST00000392562.1	37	c.67_68insG	CCDS11721.1																																																																																				0.530	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			45	3167						45	3167	---	---	---	---
EXOC7	23265	broad.mit.edu	37	17	74087246	74087247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:74087246_74087247insC	ENST00000335146.7	-	7	931_932	c.878_879insG	c.(877-879)ggcfs	p.G293fs	EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.G293fs|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.G252fs|EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.G293fs|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000607838.1_Frame_Shift_Ins_p.G293fs			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	293					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGAGGTTAGAGCCCCCCTTTTT	0.554																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(877-879)gtcfs		exocyst complex component 7																																				SO:0001589	frameshift_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74087246_74087247insC	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.879dupG	17.37:g.74087252_74087252dupC	ENSP00000334100:p.Gly293fs		Somatic				EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000335146.7_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.V252fs|EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.V293fs	p.V293fs	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	WXS	Illumina GAIIx	Phase_I	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		7	972_973	-			293					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Frame_Shift_Ins	INS	ENST00000335146.7	37	c.878_879insG	CCDS45782.1																																																																																				0.554	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		14	557						14	557	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76482386	76482387	+	Frame_Shift_Ins	INS	-	-	G	rs371184538|rs189895457		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:76482386_76482387insG	ENST00000585328.1	-	45	7129_7130	c.7005_7006insC	c.(7003-7008)cccgacfs	p.D2336fs	DNAH17_ENST00000389840.5_Frame_Shift_Ins_p.D2327fs|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2327					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGGGGGAGTCGGGGGGCACGG	0.614																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6976-6981)ccactcfs		dynein, axonemal, heavy chain 17																																				SO:0001589	frameshift_variant	8632							g.chr17:76482386_76482387insG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7006dupC	17.37:g.76482392_76482392dupG	ENSP00000465516:p.Asp2336fs		Somatic				DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Frame_Shift_Ins_p.L2336fs	p.L2327fs			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		45	7102_7103	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Ins	INS	ENST00000585328.1	37	c.6978_6979insC																																																																																					0.614	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	315						8	315	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76798482	76798483	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:76798482_76798483delCT	ENST00000542802.3	-	17	3388_3389	c.2945_2946delAG	c.(2944-2946)aagfs	p.K982fs	USP36_ENST00000449938.2_Frame_Shift_Del_p.K587fs|USP36_ENST00000312010.6_Frame_Shift_Del_p.K982fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	980					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CATCTTGGGGCTTGGCACTCCT	0.569																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2944-2946)afs		ubiquitin specific peptidase 36																																				SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76798482_76798483delCT	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2945_2946delAG	17.37:g.76798482_76798483delCT	ENSP00000441214:p.Lys982fs		Somatic				USP36_ENST00000449938.2_Frame_Shift_Del_p.K587fs|USP36_ENST00000542802.2_Frame_Shift_Del_p.K982fs	p.K982fs	NM_025090.3	NP_079366.3	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		17	3269_3270	-			980					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Del	DEL	ENST00000542802.3	37	c.2945_2946delAG	CCDS32755.1																																																																																				0.569	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		9	39						9	39	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76814760	76814761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:76814760_76814761insC	ENST00000542802.3	-	10	1454_1455	c.1011_1012insG	c.(1009-1014)gggaagfs	p.K338fs	USP36_ENST00000449938.2_Frame_Shift_Ins_p.K38fs|USP36_ENST00000312010.6_Frame_Shift_Ins_p.K338fs|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	338	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTGGTGATCTTCCCCCCGCTGA	0.54																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1009-1014)ggagatfs		ubiquitin specific peptidase 36																																				SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76814760_76814761insC	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1012dupG	17.37:g.76814766_76814766dupC	ENSP00000441214:p.Lys338fs		Somatic				USP36_ENST00000449938.2_Frame_Shift_Ins_p.D38fs|USP36_ENST00000542802.2_Frame_Shift_Ins_p.D338fs|USP36_ENST00000588467.1_5'UTR	p.D338fs	NM_025090.3	NP_079366.3	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		10	1335_1336	-			338					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	ENST00000542802.3	37	c.1011_1012insG	CCDS32755.1																																																																																				0.540	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		13	454						13	454	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80400207	80400208	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:80400207_80400208insC	ENST00000327949.9	+	12	1419_1420	c.1408_1409insC	c.(1408-1410)gccfs	p.A470fs	HEXDC_ENST00000337014.6_Frame_Shift_Ins_p.P500fs|HEXDC_ENST00000577944.1_Frame_Shift_Ins_p.CP472fs			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	470					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGAGGTGTCTGCCCCCCCGCTG	0.688																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1495-1500)ctccccfs		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing																																				SO:0001589	frameshift_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400207_80400208insC	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1415dupC	17.37:g.80400214_80400214dupC	ENSP00000332634:p.Ala470fs		Somatic				HEXDC_ENST00000577944.1_Frame_Shift_Ins_p.S472fs|HEXDC_ENST00000327949.9_Frame_Shift_Ins_p.P470fs	p.LP499fs	NM_173620.2	NP_775891.2	WXS	Illumina GAIIx	Phase_I	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	1971_1972	+	Breast(20;0.00106)|all_neural(118;0.0804)		0					B7UUP6|Q8IYN4|Q8TE81	Frame_Shift_Ins	INS	ENST00000327949.9	37	c.1497_1498insC																																																																																					0.688	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		9	23						9	23	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13645488	13645489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:13645488_13645489insC	ENST00000359446.5	+	6	1221_1222	c.753_754insC	c.(754-756)cccfs	p.P252fs	LDLRAD4_ENST00000361205.4_Frame_Shift_Ins_p.P252fs|LDLRAD4_ENST00000587757.1_Frame_Shift_Ins_p.P215fs|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000399848.3_Frame_Shift_Ins_p.P234fs|LDLRAD4_ENST00000586765.1_Frame_Shift_Ins_p.P197fs|LDLRAD4_ENST00000592991.1_Frame_Shift_Ins_p.P154fs|LDLRAD4_ENST00000585931.1_Frame_Shift_Ins_p.P175fs	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	252					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										TGGAGGGGCCACCCCCCACATA	0.604																																						ENST00000361205.4																			0											c.(751-756)ccccccfs		low density lipoprotein receptor class A domain containing 4																																				SO:0001589	frameshift_variant	753							g.chr18:13645488_13645489insC	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.759dupC	18.37:g.13645494_13645494dupC	ENSP00000352420:p.Pro252fs		Somatic				LDLRAD4_ENST00000586765.1_Frame_Shift_Ins_p.PP196fs|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000359446.5_Frame_Shift_Ins_p.PP251fs|LDLRAD4_ENST00000399848.3_Frame_Shift_Ins_p.PP233fs|LDLRAD4_ENST00000592991.1_Frame_Shift_Ins_p.PP153fs|LDLRAD4_ENST00000587757.1_Frame_Shift_Ins_p.PP214fs|LDLRAD4_ENST00000585931.1_Frame_Shift_Ins_p.PP174fs	p.PP251fs	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1	WXS	Illumina GAIIx	Phase_I					7	1421_1422	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Frame_Shift_Ins	INS	ENST00000359446.5	37	c.753_754insC	CCDS32793.1																																																																																				0.604	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		12	331						12	331	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)gagfs	p.E135fs	ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.E135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(403-405)ggafs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567075_45567076insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.404dupG	18.37:g.45567082_45567082dupC	ENSP00000468782:p.Glu135fs		Somatic				ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs	p.G135fs			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			3	904_905	-			135			Asp-rich.|Glu-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.403_404insG	CCDS32830.1																																																																																				0.574	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		30	551						30	551	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50976891	50976892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:50976891_50976892insC	ENST00000442544.2	+	23	3867_3868	c.3251_3252insC	c.(3250-3255)caccccfs	p.HP1084fs	DCC_ENST00000581580.1_Frame_Shift_Ins_p.HP719fs	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1084					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGACAAATGCACCCCCCGCATG	0.495																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3250-3252)cccfs		deleted in colorectal carcinoma																																				SO:0001589	frameshift_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50976891_50976892insC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3257dupC	18.37:g.50976897_50976897dupC	ENSP00000389140:p.His1084fs		Somatic				DCC_ENST00000581580.1_Frame_Shift_Ins_p.P719fs	p.P1084fs	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3867_3868	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1084						Frame_Shift_Ins	INS	ENST00000442544.2	37	c.3251_3252insC	CCDS11952.1																																																																																				0.495	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		7	258						7	258	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50994329	50994330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:50994329_50994330insC	ENST00000442544.2	+	25	4301_4302	c.3685_3686insC	c.(3685-3687)gccfs	p.A1229fs	DCC_ENST00000581580.1_Frame_Shift_Ins_p.A864fs	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1229					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCACGCCGAGCCCCCCGGGCC	0.51																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3685-3687)cccfs		deleted in colorectal carcinoma																																				SO:0001589	frameshift_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50994329_50994330insC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3691dupC	18.37:g.50994335_50994335dupC	ENSP00000389140:p.Ala1229fs		Somatic				DCC_ENST00000581580.1_Frame_Shift_Ins_p.P864fs	p.P1229fs	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	25	4301_4302	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1229						Frame_Shift_Ins	INS	ENST00000442544.2	37	c.3685_3686insC	CCDS11952.1																																																																																				0.510	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		9	265						9	265	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56586491	56586492	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:56586491_56586492insA	ENST00000336078.4	+	4	1748_1749	c.972_973insA	c.(973-975)aaafs	p.K325fs	ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.K325fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.K325fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.K325fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.K325fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCGACGGGACCAAAAAACCATC	0.53																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(970-975)acaaaafs		zinc finger protein 532																																				SO:0001589	frameshift_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586491_56586492insA	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.978dupA	18.37:g.56586497_56586497dupA	ENSP00000338217:p.Lys325fs		Somatic				ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.TK324fs	p.TK324fs	NM_018181.4	NP_060651.2	WXS	Illumina GAIIx	Phase_I	Q9HCE3	ZN532_HUMAN			4	1748_1749	+			324					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Frame_Shift_Ins	INS	ENST00000336078.4	37	c.972_973insA	CCDS11969.1																																																																																				0.530	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		7	623						7	623	---	---	---	---
ADAMTSL5	339366	broad.mit.edu	37	19	1510419	1510422	+	Frame_Shift_Del	DEL	CCAG	CCAG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:1510419_1510422delCCAG	ENST00000413997.2	-	4	226_229	c.227_230delCTGG	c.(226-231)cctgggfs	p.PG76fs	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000330475.4_Frame_Shift_Del_p.PG66fs|ADAMTSL5_ENST00000395467.2_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	76	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTTCTTCCCCAGGAAGCCTGAA	0.672																																						ENST00000330475.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10						c.(196-201)cgfs		ADAMTS-like 5																																				SO:0001589	frameshift_variant	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1510419_1510422delCCAG	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.227_230delCTGG	19.37:g.1510419_1510422delCCAG	ENSP00000399364:p.Pro76fs		Somatic				ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Frame_Shift_Del_p.PG76fs	p.PG66fs	NM_213604.2	NP_998769.2	WXS	Illumina GAIIx	Phase_I	Q6ZMM2	ATL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	640_643	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	66			TSP type-1.		B4DXK7|Q8IW95	Frame_Shift_Del	DEL	ENST00000413997.2	37	c.197_200delCTGG																																																																																					0.672	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		19	17						19	17	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4954444	4954445	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:4954444_4954445insG	ENST00000592666.1	+	0	2477_2478							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGCAGCAGGAGGGGGGCTTCG	0.624																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4954444_4954445insG	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954450_4954450dupG			Somatic								WXS	Illumina GAIIx	Phase_I	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	2477_2478	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	INS	ENST00000592666.1	37																																																																																						0.624	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		8	700						8	700	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456524	5456525	+	Frame_Shift_Ins	INS	-	-	A	rs577627752		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5456524_5456525insA	ENST00000222033.4	+	1	1099_1100	c.1022_1023insA	c.(1021-1026)tcccaafs	p.Q342fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	342						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCCTGGTTCTCCCAAGCCCCCC	0.609																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1021-1023)tcafs		zinc and ring finger 4																																				SO:0001589	frameshift_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456524_5456525insA	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		Exception_encountered	19.37:g.5456524_5456525insA	ENSP00000222033:p.Gln342fs		Somatic					p.S341fs	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1099_1100	+			341					A8K886|O75866	Frame_Shift_Ins	INS	ENST00000222033.4	37	c.1022_1023insA	CCDS42475.1																																																																																				0.609	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		9	286						9	286	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456529	5456530	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5456529_5456530insC	ENST00000222033.4	+	1	1104_1105	c.1027_1028insC	c.(1027-1029)gccfs	p.A343fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	343						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCTCCCAAGCCCCCCGGCGC	0.609																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)cccfs		zinc and ring finger 4																																				SO:0001589	frameshift_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456529_5456530insC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1033dupC	19.37:g.5456535_5456535dupC	ENSP00000222033:p.Ala343fs		Somatic					p.P343fs	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1104_1105	+			343					A8K886|O75866	Frame_Shift_Ins	INS	ENST00000222033.4	37	c.1027_1028insC	CCDS42475.1																																																																																				0.609	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		7	281						7	281	---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5590342	5590343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5590342_5590343insC	ENST00000252542.4	-	18	2735_2736	c.2471_2472insG	c.(2470-2472)ggcfs	p.G824fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	824	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGAGCCGTAGCCCCCCCAGCC	0.688																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2470-2472)gtafs		scaffold attachment factor B2																																				SO:0001589	frameshift_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5590342_5590343insC	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2472dupG	19.37:g.5590349_5590349dupC	ENSP00000252542:p.Gly824fs		Somatic					p.V824fs	NM_014649.2	NP_055464.1	WXS	Illumina GAIIx	Phase_I	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	18	2735_2736	-			824			Gly-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Frame_Shift_Ins	INS	ENST00000252542.4	37	c.2471_2472insG	CCDS32879.1																																																																																				0.688	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		8	93						8	93	---	---	---	---
ACSBG2	81616	broad.mit.edu	37	19	6187325	6187326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6187325_6187326insC	ENST00000586696.1	+	12	1848_1849	c.1572_1573insC	c.(1573-1575)cccfs	p.P525fs	ACSBG2_ENST00000588304.1_Frame_Shift_Ins_p.P475fs|ACSBG2_ENST00000252669.5_Frame_Shift_Ins_p.P525fs|ACSBG2_ENST00000588485.1_Frame_Shift_Ins_p.P338fs|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Frame_Shift_Ins_p.P525fs			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	525					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAAAATGTGCCCCCCATTCC	0.48																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1420-1425)gtccccfs		acyl-CoA synthetase bubblegum family member 2																																				SO:0001589	frameshift_variant	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6187325_6187326insC		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1578dupC	19.37:g.6187331_6187331dupC	ENSP00000465589:p.Pro525fs		Somatic				ACSBG2_ENST00000588485.1_Frame_Shift_Ins_p.VP337fs|ACSBG2_ENST00000591403.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000252669.5_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000586696.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000591741.1_3'UTR	p.VP474fs			WXS	Illumina GAIIx	Phase_I	Q5FVE4	ACBG2_HUMAN			12	1868_1869	+			524					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Frame_Shift_Ins	INS	ENST00000586696.1	37	c.1422_1423insC	CCDS12159.1																																																																																				0.480	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		8	570						8	570	---	---	---	---
SLC25A23	79085	broad.mit.edu	37	19	6454101	6454102	+	Splice_Site	DEL	TG	TG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6454101_6454102delTG	ENST00000301454.4	-	7	902		c.e7-2		SLC25A23_ENST00000334510.5_Splice_Site|SLC25A23_ENST00000414491.2_Splice_Site	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23						adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCTCTTGATCTGAGGCGGGGAG	0.589																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.e7-2		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23																																				SO:0001630	splice_region_variant	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6454101_6454102delTG	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.796-2CA>-	19.37:g.6454101_6454102delTG			Somatic				SLC25A23_ENST00000414491.2_Splice_Site|SLC25A23_ENST00000334510.5_Splice_Site		NM_024103.2	NP_077008.2	WXS	Illumina GAIIx	Phase_I	Q9BV35	SCMC3_HUMAN			7	902	-								B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Splice_Site	DEL	ENST00000301454.4	37		CCDS32882.1																																																																																				0.589	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103	Intron	13	49						13	49	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)ggtfs	p.G141fs	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000598006.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ACCCCGTGCCACCCCCCAGCGA	0.649																																						ENST00000264071.2																			0											c.(421-423)gggfs		tubulin, beta 4A class IVa																																				SO:0001589	frameshift_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496087_6496088insC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.423dupG	19.37:g.6496093_6496093dupC	ENSP00000264071:p.Gly141fs		Somatic				TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR	p.G141fs			WXS	Illumina GAIIx	Phase_I	P04350	TBB4_HUMAN			4	793_794	-			141					B3KQP4|Q969E5	Frame_Shift_Ins	INS	ENST00000264071.2	37	c.422_423insG	CCDS12168.1																																																																																				0.649	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		9	459						9	459	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		Somatic					p.V891fs	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		27	448						27	448	---	---	---	---
RETN	56729	broad.mit.edu	37	19	7734757	7734758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:7734757_7734758insG	ENST00000221515.2	+	3	257_258	c.169_170insG	c.(169-171)aggfs	p.R57fs	RETN_ENST00000381324.2_Intron	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	57					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						CGTCACCTCCAGGGGGGACCTG	0.624																																						ENST00000221515.2																			0				ovary(1)	1						c.(169-171)gggfs		resistin																																				SO:0001589	frameshift_variant	56729						hormone activity	g.chr19:7734757_7734758insG	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.175dupG	19.37:g.7734763_7734763dupG	ENSP00000221515:p.Arg57fs		Somatic				RETN_ENST00000381324.2_Intron	p.G57fs	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	WXS	Illumina GAIIx	Phase_I	Q9HD89	RETN_HUMAN			3	257_258	+			57					D6W649|Q540D9|Q76B53	Frame_Shift_Ins	INS	ENST00000221515.2	37	c.169_170insG	CCDS12182.1																																																																																				0.624	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		7	265						7	265	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7807934	7807935	+	Frame_Shift_Ins	INS	-	-	G	rs374114895		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:7807934_7807935insG	ENST00000315599.7	-	7	1227_1228	c.1205_1206insC	c.(1204-1206)cctfs	p.P402fs	CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	402					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTACGCAGGAGGGGGGTTTGG	0.5																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1204-1206)cccfs		CD209 molecule																																				SO:0001589	frameshift_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7807934_7807935insG	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1206dupC	19.37:g.7807940_7807940dupG	ENSP00000315477:p.Pro402fs		Somatic				CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs	p.P402fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			7	1227_1228	-			402					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Frame_Shift_Ins	INS	ENST00000315599.7	37	c.1205_1206insC	CCDS12186.1																																																																																				0.500	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		11	734						11	734	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	532						22	532	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9076019	9076020	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9076019_9076020insT	ENST00000397910.4	-	3	11629_11630	c.11426_11427insA	c.(11425-11427)aagfs	p.K3809fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3810	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGCTCTGCCTTTTTGCTTGT	0.52																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11425-11427)agcfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076019_9076020insT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11427dupA	19.37:g.9076024_9076024dupT	ENSP00000381008:p.Lys3809fs		Somatic					p.S3809fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	11629_11630	-			3810			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.11426_11427insA	CCDS54212.1																																																																																				0.520	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	2410						9	2410	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														388503							g.chr19:10160752_10160753insC	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160758_10160758dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1411	+									RNA	INS	ENST00000495140.1	37																																																																																						0.599	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		11	951						11	951	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)ggcfs	p.G354fs	ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.G314fs|ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.G354fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(1060-1062)gcgfs		angiopoietin-like 6																																				SO:0001589	frameshift_variant	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204185_10204186insC	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1062dupG	19.37:g.10204192_10204192dupC	ENSP00000253109:p.Gly354fs		Somatic				ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs	p.A354fs	NM_031917.2	NP_114123.2	WXS	Illumina GAIIx	Phase_I	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1299_1300	-			354			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Frame_Shift_Ins	INS	ENST00000253109.4	37	c.1061_1062insG	CCDS12224.1																																																																																				0.639	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		7	80						7	80	---	---	---	---
ICAM1	3383	broad.mit.edu	37	19	10395790	10395791	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:10395790_10395791insC	ENST00000264832.3	+	7	1751_1752		c.e7-1		ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Splice_Site|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1						adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCTCCCCACAGCCCCCCGGTAT	0.599																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e7-1		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)																																			SO:0001630	splice_region_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395790_10395791insC		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1427-1->C	19.37:g.10395796_10395796dupC			Somatic				ICAM1_ENST00000423829.2_Splice_Site		NM_000201.2	NP_000192.2	WXS	Illumina GAIIx	Phase_I	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		7	1751_1752	+								B2R6M3|Q5NKV7|Q96B50	Splice_Site	INS	ENST00000264832.3	37		CCDS12231.1																																																																																				0.599	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		Intron	10	447						10	447	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12155624_12155625insT	ENST00000547628.1	-	4	728_729	c.591_592insA	c.(589-594)aaacccfs	p.P198fs	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P245fs|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(730-735)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155624_12155625insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.592dupA	19.37:g.12155631_12155631dupT	ENSP00000447931:p.Pro198fs		Somatic				CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.NL244fs			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	731_732	-			197						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.732_733insA	CCDS45984.2																																																																																				0.396	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		27	779						27	779	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12384201	12384202	+	In_Frame_Ins	INS	-	-	GAC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12384201_12384202insGAC	ENST00000356109.5	-	5	1130_1131	c.1012_1013insGTC	c.(1012-1014)ttc>tGTCtc	p.338_338F>CL	ZNF44_ENST00000355684.5_In_Frame_Ins_p.290_290F>CL	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGAAACACTGAAGGCTTTCCCA	0.421																																						ENST00000356109.5																			0				ovary(1)	1						c.(1012-1014)cag>GTCcag		zinc finger protein 44																																				SO:0001652	inframe_insertion	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384201_12384202insGAC	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1012_1013insGTC	19.37:g.12384201_12384202insGAC	ENSP00000348419:p.Phe338delinsCysLeu		Somatic				ZNF44_ENST00000355684.5_In_Frame_Ins_p.289_290insV	p.337_338insV	NM_001164276.1	NP_001157748.1	WXS	Illumina GAIIx	Phase_I	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1130_1131	-		Renal(1328;0.157)	337					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	In_Frame_Ins	INS	ENST00000356109.5	37	c.1012_1013insGTC	CCDS54223.1																																																																																				0.421	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		9	224						9	224	---	---	---	---
DHPS	1725	broad.mit.edu	37	19	12787958	12787959	+	Frame_Shift_Ins	INS	-	-	C	rs144283239		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12787958_12787959insC	ENST00000210060.7	-	7	986_987	c.851_852insG	c.(850-852)ggcfs	p.G284fs	DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000594424.1_Frame_Shift_Ins_p.G242fs|DHPS_ENST00000351660.5_Intron	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	284					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						GCTTGACCACGCCCCCGCCCAG	0.599																																						ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(850-852)ggtfs		deoxyhypusine synthase	Sulfadoxine(DB01299)																																			SO:0001589	frameshift_variant	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12787958_12787959insC	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.852dupG	19.37:g.12787963_12787963dupC	ENSP00000210060:p.Gly284fs		Somatic				DHPS_ENST00000351660.5_Intron|DHPS_ENST00000594424.1_Frame_Shift_Ins_p.G242fs	p.G284fs	NM_001930.3	NP_001921.1	WXS	Illumina GAIIx	Phase_I	P49366	DHYS_HUMAN			7	986_987	-			284					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Frame_Shift_Ins	INS	ENST00000210060.7	37	c.851_852insG	CCDS12276.1																																																																																				0.599	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		7	446						7	446	---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13008600	13008601	+	Frame_Shift_Ins	INS	-	-	G	rs398123191		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:13008600_13008601insG	ENST00000222214.5	+	11	1377_1378	c.1166_1167insG	c.(1165-1170)ctggggfs	p.LG389fs	GCDH_ENST00000422947.2_Frame_Shift_Ins_p.LG345fs|GCDH_ENST00000457854.1_Frame_Shift_Ins_p.LG389fs|GCDH_ENST00000591470.1_Frame_Shift_Ins_p.LG389fs			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	389					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CGAGACATGCTGGGGGGGAATG	0.599																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(1165-1167)cggfs		glutaryl-CoA dehydrogenase																																				SO:0001589	frameshift_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008600_13008601insG	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1173dupG	19.37:g.13008607_13008607dupG	ENSP00000222214:p.Leu389fs		Somatic				GCDH_ENST00000422947.2_Frame_Shift_Ins_p.R345fs|GCDH_ENST00000457854.1_Frame_Shift_Ins_p.R389fs|GCDH_ENST00000591470.1_Frame_Shift_Ins_p.R389fs	p.R389fs			WXS	Illumina GAIIx	Phase_I	Q92947	GCDH_HUMAN			11	1377_1378	+			389					A8K2Z2|O14719	Frame_Shift_Ins	INS	ENST00000222214.5	37	c.1166_1167insG	CCDS12286.1																																																																																				0.599	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			7	178						7	178	---	---	---	---
C19orf53	28974	broad.mit.edu	37	19	13882967	13882968	+	5'Flank	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:13882967_13882968insC	ENST00000588234.1	+	0	0				MRI1_ENST00000319545.8_Frame_Shift_Ins_p.T281fs|C19orf53_ENST00000593274.1_5'Flank|CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000586894.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA|MRI1_ENST00000040663.6_Frame_Shift_Ins_p.T328fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53											breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CTTCGATGTCACCCCCCACGAC	0.554																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(841-843)cccfs		methylthioribose-1-phosphate isomerase 1																																				SO:0001631	upstream_gene_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13882967_13882968insC	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13882973_13882973dupC	Exception_encountered		Somatic				CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Frame_Shift_Ins_p.P328fs	p.P281fs	NM_032285.2	NP_115661.1	WXS	Illumina GAIIx	Phase_I	Q9BV20	MTNA_HUMAN			6	898_899	+			328					B2R4J9	Frame_Shift_Ins	INS	ENST00000588234.1	37	c.841_842insC	CCDS12298.1																																																																																				0.554	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		7	515						7	515	---	---	---	---
GIPC1	10755	broad.mit.edu	37	19	14591534	14591535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:14591534_14591535insC	ENST00000393033.4	-	5	613_614	c.344_345insG	c.(343-345)ggcfs	p.G115fs	GIPC1_ENST00000591349.1_Frame_Shift_Ins_p.G18fs|GIPC1_ENST00000586027.1_Frame_Shift_Ins_p.G115fs|GIPC1_ENST00000345425.2_Frame_Shift_Ins_p.G115fs|GIPC1_ENST00000393028.1_Frame_Shift_Ins_p.G18fs|GIPC1_ENST00000393029.3_Frame_Shift_Ins_p.G18fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	115					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCGATCTGGCCCCCCAGGAG	0.624											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(343-345)gcafs		GIPC PDZ domain containing family, member 1																																				SO:0001589	frameshift_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591534_14591535insC	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.345dupG	19.37:g.14591540_14591540dupC	ENSP00000376753:p.Gly115fs		Somatic	OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_ENST00000586027.1_Frame_Shift_Ins_p.A115fs|GIPC1_ENST00000591349.1_Frame_Shift_Ins_p.A18fs|GIPC1_ENST00000345425.2_Frame_Shift_Ins_p.A115fs|GIPC1_ENST00000393028.1_Frame_Shift_Ins_p.A18fs|GIPC1_ENST00000393029.3_Frame_Shift_Ins_p.A18fs	p.A115fs	NM_005716.3	NP_005707.1	WXS	Illumina GAIIx	Phase_I	O14908	GIPC1_HUMAN			5	613_614	-			115					A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Ins	INS	ENST00000393033.4	37	c.344_345insG	CCDS12310.1																																																																																				0.624	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			8	317						8	317	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16006366	16006367	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16006366_16006367insG	ENST00000221700.6	-	3	387_388	c.292_293insC	c.(292-294)ctcfs	p.L98fs	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAACTGAGGAGGGGGGAGATG	0.594																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(292-294)cctfs		cytochrome P450, family 4, subfamily F, polypeptide 2																																				SO:0001589	frameshift_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006366_16006367insG	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.293dupC	19.37:g.16006372_16006372dupG	ENSP00000221700:p.Leu98fs		Somatic				CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.P98fs	NM_001082.3	NP_001073.3	WXS	Illumina GAIIx	Phase_I	P78329	CP4F2_HUMAN			3	387_388	-			98						Frame_Shift_Ins	INS	ENST00000221700.6	37	c.292_293insC	CCDS12336.1																																																																																				0.594	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		16	516						16	516	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gggfs	p.G139fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.G90fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-417)gctfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275654_16275655insT	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.416_417insA	19.37:g.16275654_16275655insT	ENSP00000269878:p.Gly139fs		Somatic				CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR	p.A139fs	NM_054113.2	NP_473454.1	WXS	Illumina GAIIx	Phase_I	Q96Q77	CIB3_HUMAN			5	465_466	-			139		G -> E (in dbSNP:rs6512087).			E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.416_417insA	CCDS12340.1																																																																																				0.569	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		25	915						25	915	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16318927	16318928	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16318927_16318928insC	ENST00000291439.3	+	4	814_815	c.365_366insC	c.(364-369)taccccfs	p.YP122fs	AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.YP122fs|AP1M1_ENST00000590756.1_Frame_Shift_Ins_p.YP50fs|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.YP122fs|AP1M1_ENST00000541844.1_Frame_Shift_Ins_p.YP50fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	122					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GACTTCGGCTACCCCCAGACCA	0.594																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(364-366)tccfs		adaptor-related protein complex 1, mu 1 subunit																																				SO:0001589	frameshift_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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	protein binding	g.chr19:16318927_16318928insC		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.370dupC	19.37:g.16318932_16318932dupC	ENSP00000291439:p.Tyr122fs		Somatic				AP1M1_ENST00000541844.1_Frame_Shift_Ins_p.S50fs|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.S122fs|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.S122fs|AP1M1_ENST00000590756.1_Frame_Shift_Ins_p.S50fs	p.S122fs	NM_032493.3	NP_115882.1	WXS	Illumina GAIIx	Phase_I	Q9BXS5	AP1M1_HUMAN			4	814_815	+			122					Q4TTY5	Frame_Shift_Ins	INS	ENST00000291439.3	37	c.365_366insC	CCDS12342.1																																																																																				0.594	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		7	484						7	484	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16860826_16860827insC	ENST00000552788.1	+	4	1373_1374	c.1373_1374insC	c.(1372-1377)tgccccfs	p.CP458fs	NWD1_ENST00000523826.1_Frame_Shift_Ins_p.CP252fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.CP323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000524140.2_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.CP458fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860826_16860827insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1379dupC	19.37:g.16860832_16860832dupC	ENSP00000447224:p.Cys458fs		Somatic				NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs	p.S458fs	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			6	1791_1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.1373_1374insC																																																																																					0.629	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		10	341						10	341	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs		Somatic					p.S1052fs	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		17	231						17	231	---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17337839	17337840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:17337839_17337840insC	ENST00000215061.4	+	3	327_328	c.283_284insC	c.(283-285)gccfs	p.A95fs	OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.A95fs|OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.A39fs|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	95	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAAAACCAGCGCCCCCCGCCCT	0.639																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(283-285)cccfs		occludin/ELL domain containing 1																																				SO:0001589	frameshift_variant	79629							g.chr19:17337839_17337840insC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.289dupC	19.37:g.17337845_17337845dupC	ENSP00000215061:p.Ala95fs		Somatic				OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs	p.P95fs	NM_024578.1	NP_078854.1	WXS	Illumina GAIIx	Phase_I	Q9H607	OCEL1_HUMAN			3	327_328	+			95			Pro-rich.			Frame_Shift_Ins	INS	ENST00000215061.4	37	c.283_284insC	CCDS12351.1																																																																																				0.639	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		12	410						12	410	---	---	---	---
FCHO1	23149	broad.mit.edu	37	19	17893823	17893827	+	Splice_Site	DEL	TAGCT	TAGCT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:17893823_17893827delTAGCT	ENST00000596536.1	+	24	2220_2222	c.1937_1939delTAGCT	c.(1936-1941)atagct>act	p.IA646fs	FCHO1_ENST00000594202.1_Splice_Site_p.IA646fs|FCHO1_ENST00000595033.1_Splice_Site_p.IA596fs|FCHO1_ENST00000389133.4_Splice_Site_p.IA646fs|FCHO1_ENST00000600676.1_Splice_Site_p.IA646fs|FCHO1_ENST00000597512.1_Splice_Site_p.IA653fs|FCHO1_ENST00000539407.1_Splice_Site_p.IA646fs|FCHO1_ENST00000252771.7_Splice_Site_p.IA646fs|FCHO1_ENST00000596951.1_Splice_Site_p.IA646fs	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	646	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCATCCTCCCTAGCTGCCTGGCTCG	0.62																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.e24-1		FCH domain only 1																																				SO:0001630	splice_region_variant	23149							g.chr19:17893823_17893827delTAGCT	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1938-1TAGCT>-	19.37:g.17893823_17893827delTAGCT			Somatic				FCHO1_ENST00000389133.4_Splice_Site_p.T646_splice|FCHO1_ENST00000252771.7_Splice_Site_p.T646_splice|FCHO1_ENST00000600676.1_Splice_Site_p.T646_splice|FCHO1_ENST00000596951.1_Splice_Site_p.T646_splice|FCHO1_ENST00000595033.1_Splice_Site_p.T596_splice|FCHO1_ENST00000596536.1_Splice_Site_p.T646_splice|FCHO1_ENST00000597512.1_Splice_Site_p.T653_splice|FCHO1_ENST00000539407.1_Splice_Site_p.T646_splice	p.T646_splice	NM_001161357.1	NP_001154829.1	WXS	Illumina GAIIx	Phase_I	O14526	FCHO1_HUMAN			24	2216_2218	+			646					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Splice_Site	DEL	ENST00000596536.1	37	c.1937_splice	CCDS32955.1																																																																																				0.620	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122	Frame_Shift_Del	40	290						40	290	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19753418	19753419	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:19753418_19753419insG	ENST00000203556.4	-	2	166_167	c.29_30insC	c.(28-30)ccafs	p.P10fs	GMIP_ENST00000587238.1_Frame_Shift_Ins_p.P10fs|GMIP_ENST00000445806.2_Frame_Shift_Ins_p.P10fs	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	10					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTCAGGACCTGGGGGGAGTCC	0.589																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(28-30)cggfs		GEM interacting protein																																				SO:0001589	frameshift_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19753418_19753419insG	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.30dupC	19.37:g.19753424_19753424dupG	ENSP00000203556:p.Pro10fs		Somatic				GMIP_ENST00000445806.2_Frame_Shift_Ins_p.R10fs|GMIP_ENST00000587238.1_Frame_Shift_Ins_p.R10fs	p.R10fs	NM_016573.2	NP_057657.2	WXS	Illumina GAIIx	Phase_I	Q9P107	GMIP_HUMAN			2	166_167	-			10					A0AVN9|B7ZLZ0	Frame_Shift_Ins	INS	ENST00000203556.4	37	c.29_30insC	CCDS12408.1																																																																																				0.589	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		9	409						9	409	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs		Somatic					p.V546fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		36	434						36	434	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33698167	33698167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33698167delC	ENST00000253193.7	+	7	2201	c.1999delC	c.(1999-2001)cccfs	p.P668fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	668					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGGAGACAGGCCCCCCAGTGC	0.731																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1999-2001)ccfs		low density lipoprotein receptor-related protein 3				0,3640		0,0,1820	4.0	5.0	5.0			-0.2	0.0	19		5	10,7280		1,8,3636	no	frameshift	LRP3	NM_002333.3		1,8,5456	A1A1,A1R,RR		0.1372,0.0,0.0915			33698167	10,10920	1983	3976	5959	SO:0001589	frameshift_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33698167delC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1999delC	19.37:g.33698167delC	ENSP00000253193:p.Pro668fs		Somatic					p.P668fs	NM_002333.3	NP_002324.2	WXS	Illumina GAIIx	Phase_I	O75074	LRP3_HUMAN			7	2201	+	Esophageal squamous(110;0.137)		668					B3KQD6|B4DKF2	Frame_Shift_Del	DEL	ENST00000253193.7	37	c.1999delC	CCDS12430.1																																																																																				0.731	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			4	9						4	9	---	---	---	---
SLC7A10	56301	broad.mit.edu	37	19	33703793	33703794	+	Frame_Shift_Ins	INS	-	-	G	rs143654746	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33703793_33703794insG	ENST00000253188.4	-	3	617_618	c.471_472insC	c.(469-474)cccaccfs	p.T158fs		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	158					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATGC	0.639																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(469-474)ccccacfs		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10																																				SO:0001589	frameshift_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33703793_33703794insG	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.472dupC	19.37:g.33703800_33703800dupG	ENSP00000253188:p.Thr158fs		Somatic					p.H158fs	NM_019849.2	NP_062823.1	WXS	Illumina GAIIx	Phase_I	Q9NS82	AAA1_HUMAN			3	617_618	-	Esophageal squamous(110;0.137)		158					B2RE84	Frame_Shift_Ins	INS	ENST00000253188.4	37	c.471_472insC	CCDS12431.1																																																																																				0.639	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		11	145						11	145	---	---	---	---
CEBPG	1054	broad.mit.edu	37	19	33870210	33870211	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33870210_33870211insT	ENST00000284000.4	+	2	727_728	c.65_66insT	c.(64-69)caggcafs	p.QA22fs	CEBPG_ENST00000585933.2_Frame_Shift_Ins_p.QA22fs	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	22					B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					ATCCATACCCAGGCACATGCCA	0.55																																						ENST00000284000.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7						c.(64-66)cgcfs		CCAAT/enhancer binding protein (C/EBP), gamma																																				SO:0001589	frameshift_variant	1054				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:33870210_33870211insT	U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"""basic leucine zipper proteins"""	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		Exception_encountered	19.37:g.33870210_33870211insT	ENSP00000284000:p.Gln22fs		Somatic					p.R22fs	NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	WXS	Illumina GAIIx	Phase_I	P53567	CEBPG_HUMAN			2	727_728	+	Esophageal squamous(110;0.137)		22					B2R946|Q5U052	Frame_Shift_Ins	INS	ENST00000284000.4	37	c.65_66insT	CCDS12432.1																																																																																				0.550	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		9	143						9	143	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G	rs201411926		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:34887281_34887282insG	ENST00000356487.5	+	13	1379_1380	c.1138_1139insG	c.(1138-1140)tggfs	p.W380fs	GPI_ENST00000415930.3_Frame_Shift_Ins_p.W391fs|GPI_ENST00000586425.1_Frame_Shift_Ins_p.W380fs	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	380					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCCCATTGTGTGGGGGGAGCCA	0.564																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1171-1173)gggfs		glucose-6-phosphate isomerase																																				SO:0001589	frameshift_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887281_34887282insG	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1144dupG	19.37:g.34887287_34887287dupG	ENSP00000348877:p.Trp380fs		Somatic				GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs|GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs	p.G391fs	NM_001184722.1	NP_001171651.1	WXS	Illumina GAIIx	Phase_I	P06744	G6PI_HUMAN			13	1341_1342	+	Esophageal squamous(110;0.162)		380					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Frame_Shift_Ins	INS	ENST00000356487.5	37	c.1171_1172insG	CCDS12437.1																																																																																				0.564	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			10	821						10	821	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39025414	39025415	+	Frame_Shift_Ins	INS	-	-	G	rs193922839		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39025414_39025415insG	ENST00000359596.3	+	79	11314_11315	c.11314_11315insG	c.(11314-11316)cggfs	p.R3772fs	RYR1_ENST00000355481.4_Frame_Shift_Ins_p.R3767fs|AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Frame_Shift_Ins_p.R3772fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3772			R -> Q (in CCD; autosomal recessive form). {ECO:0000269|PubMed:18253926}.|R -> W (in MHS1). {ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGCACACCCGGGGGGCGGCC	0.589																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM073325	RYR1	M		c.(11299-11301)gggfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39025414_39025415insG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11320dupG	19.37:g.39025420_39025420dupG	ENSP00000352608:p.Arg3772fs		Somatic				RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G3772fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G3772fs	p.G3767fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		78	11430_11431	+	all_cancers(60;7.91e-06)		3772					Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Ins	INS	ENST00000359596.3	37	c.11299_11300insG	CCDS33011.1																																																																																				0.589	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	197						11	197	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs		Somatic				FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		7	512						7	512	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:40886757_40886758insG	ENST00000291823.2	-	3	1424_1425	c.1140_1141insC	c.(1138-1143)cccacgfs	p.T381fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	381			T -> M (in dbSNP:rs55760165). {ECO:0000269|PubMed:17344846}.		histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACGACGGGCGTGGGGGGCTTCC	0.658																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1138-1143)cccgccfs		homeodomain interacting protein kinase 4																																				SO:0001589	frameshift_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886757_40886758insG	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1141dupC	19.37:g.40886763_40886763dupG	ENSP00000291823:p.Thr381fs		Somatic					p.A381fs	NM_144685.3	NP_653286.2	WXS	Illumina GAIIx	Phase_I	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1424_1425	-			381		T -> M (in dbSNP:rs55760165).			A8K863|Q96M54	Frame_Shift_Ins	INS	ENST00000291823.2	37	c.1140_1141insC	CCDS12555.1																																																																																				0.658	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		9	831						9	831	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825477	41825478	+	Splice_Site	INS	-	-	G	rs556665527		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:41825477_41825478insG	ENST00000269967.3	+	3	624		c.e3-1			NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97											biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						TCCTCTGTGCAGGGGGCGAGTA	0.574																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.e3-1		coiled-coil domain containing 97																																				SO:0001630	splice_region_variant	90324							g.chr19:41825477_41825478insG	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.503-1->G	19.37:g.41825482_41825482dupG			Somatic						NM_052848.1	NP_443080.1	WXS	Illumina GAIIx	Phase_I	Q96F63	CCD97_HUMAN			3	624	+								Q658N6|Q96IF3	Splice_Site	INS	ENST00000269967.3	37		CCDS12578.1																																																																																				0.574	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848	Intron	10	1598						10	1598	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)gccfs	p.A181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(541-543)cccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825517_41825518insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.547dupC	19.37:g.41825523_41825523dupC	ENSP00000269967:p.Ala181fs		Somatic					p.P181fs	NM_052848.1	NP_443080.1	WXS	Illumina GAIIx	Phase_I	Q96F63	CCD97_HUMAN			3	663_664	+			181					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.541_542insC	CCDS12578.1																																																																																				0.644	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		15	1754						15	1754	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42482884	42482885	+	Frame_Shift_Ins	INS	-	-	G	rs143904999		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:42482884_42482885insG	ENST00000302102.5	-	12	1653_1654	c.1503_1504insC	c.(1501-1506)cccgagfs	p.E502fs	ATP1A3_ENST00000602133.1_Frame_Shift_Ins_p.E472fs|ATP1A3_ENST00000543770.1_Frame_Shift_Ins_p.E513fs|ATP1A3_ENST00000545399.1_Frame_Shift_Ins_p.E515fs	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	502					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGATGCGCTCGGGGGCACCCT	0.614																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(1540-1545)ccagcgfs		ATPase, Na+/K+ transporting, alpha 3 polypeptide																																				SO:0001589	frameshift_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42482884_42482885insG		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1504dupC	19.37:g.42482889_42482889dupG	ENSP00000302397:p.Glu502fs		Somatic				ATP1A3_ENST00000302102.5_Frame_Shift_Ins_p.A502fs|ATP1A3_ENST00000602133.1_Frame_Shift_Ins_p.A472fs|ATP1A3_ENST00000543770.1_Frame_Shift_Ins_p.A513fs	p.A515fs	NM_001256214.1	NP_001243143.1	WXS	Illumina GAIIx	Phase_I	P13637	AT1A3_HUMAN			12	1695_1696	-			502					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Frame_Shift_Ins	INS	ENST00000302102.5	37	c.1542_1543insC	CCDS12594.1																																																																																				0.614	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		11	1704						11	1704	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42827922	42827923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:42827922_42827923insC	ENST00000301204.3	+	14	1423_1424	c.1382_1383insC	c.(1381-1386)atccccfs	p.IP461fs	MEGF8_ENST00000334370.4_5'Flank|MEGF8_ENST00000251268.6_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCCG	0.708																																						ENST00000301204.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1381-1383)accfs		transmembrane protein 145																																				SO:0001589	frameshift_variant	284339					integral to membrane		g.chr19:42827922_42827923insC	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1388dupC	19.37:g.42827928_42827928dupC	ENSP00000301204:p.Ile461fs		Somatic					p.T461fs	NM_173633.2	NP_775904.2	WXS	Illumina GAIIx	Phase_I	Q8NBT3	TM145_HUMAN			14	1423_1424	+		Prostate(69;0.00682)	461						Frame_Shift_Ins	INS	ENST00000301204.3	37	c.1382_1383insC	CCDS12603.1																																																																																				0.708	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		8	325						8	325	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:42866542_42866543insC	ENST00000251268.6	+	34	5851_5852	c.5851_5852insC	c.(5851-5853)accfs	p.T1951fs	MEGF8_ENST00000334370.4_Frame_Shift_Ins_p.T1884fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5650-5652)cccfs		multiple EGF-like-domains 8																																				SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866542_42866543insC	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5857dupC	19.37:g.42866548_42866548dupC	ENSP00000251268:p.Thr1951fs		Somatic				MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	p.P1884fs	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			33	6285_6286	+		Prostate(69;0.00682)	1951			PSI 4.		A8KAY0|O75097	Frame_Shift_Ins	INS	ENST00000251268.6	37	c.5650_5651insC																																																																																					0.614	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		13	454						13	454	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		16	1118						16	1118	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45322439	45322440	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:45322439_45322440insG	ENST00000270233.6	+	11	1485_1486	c.1463_1464insG	c.(1462-1467)ttggggfs	p.LG488fs	BCAM_ENST00000589651.1_Frame_Shift_Ins_p.LG488fs	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	488	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGCCAATTGGGGGGCAGCG	0.594																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1462-1464)tggfs		basal cell adhesion molecule (Lutheran blood group)																																				SO:0001589	frameshift_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322439_45322440insG	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1469dupG	19.37:g.45322445_45322445dupG	ENSP00000270233:p.Leu488fs		Somatic				BCAM_ENST00000270233.6_Frame_Shift_Ins_p.W488fs	p.W488fs			WXS	Illumina GAIIx	Phase_I	P50895	BCAM_HUMAN			11	1507_1508	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	488			Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Frame_Shift_Ins	INS	ENST00000270233.6	37	c.1463_1464insG	CCDS12644.1																																																																																				0.594	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		8	202						8	202	---	---	---	---
EML2	24139	broad.mit.edu	37	19	46127998	46127999	+	Frame_Shift_Ins	INS	-	-	C	rs36013288	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:46127998_46127999insC	ENST00000245925.3	-	9	869_870	c.819_820insG	c.(817-822)gggaacfs	p.N274fs	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Frame_Shift_Ins_p.N475fs|EML2_ENST00000589876.1_Frame_Shift_Ins_p.N274fs|EML2_ENST00000536630.1_Frame_Shift_Ins_p.N421fs	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	274	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACATAGAGGTTCCCCCCAGAGT	0.53																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1258-1263)ggacctfs		echinoderm microtubule associated protein like 2																																				SO:0001589	frameshift_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46127998_46127999insC	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.820dupG	19.37:g.46128004_46128004dupC	ENSP00000245925:p.Asn274fs		Somatic				EML2_ENST00000587152.1_Frame_Shift_Ins_p.P475fs|EML2_ENST00000245925.3_Frame_Shift_Ins_p.P274fs|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Frame_Shift_Ins_p.P274fs	p.P421fs	NM_001193269.1	NP_001180198.1	WXS	Illumina GAIIx	Phase_I	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	12	1398_1399	-		Ovarian(192;0.179)|all_neural(266;0.224)	274	DPARSAGFH -> MAAAGHGDP (in Ref. 3; AAH32630).				B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Frame_Shift_Ins	INS	ENST00000245925.3	37	c.1260_1261insG	CCDS12670.1																																																																																				0.530	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		11	287						11	287	---	---	---	---
MYPOP	339344	broad.mit.edu	37	19	46404595	46404597	+	In_Frame_Del	DEL	GGC	GGC	-	rs370151121|rs537956366	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:46404595_46404597delGGC	ENST00000322217.5	-	2	521_523	c.435_437delGCC	c.(433-438)ccgccc>ccc	p.145_146PP>P		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	145	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			large_intestine(2)|lung(1)|skin(1)	4						GGCGCTTGGGGGCGGCGGCTGTG	0.685																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(433-438)ccc>cc		Myb-related transcription factor, partner of profilin																																				SO:0001651	inframe_deletion	339344					nucleus	DNA binding	g.chr19:46404595_46404597delGGC	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.435_437delGCC	19.37:g.46404601_46404603delGGC	ENSP00000325402:p.Pro147del		Somatic					p.PP145del	NM_001012643.2	NP_001012661.1	WXS	Illumina GAIIx	Phase_I	Q86VE0	MYPOP_HUMAN			2	521_523	-			145			Pro-rich.			In_Frame_Del	DEL	ENST00000322217.5	37	c.435_437delGCC	CCDS33055.1																																																																																				0.685	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		12	4						12	4	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)cccaccfs	p.T743fs	SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.T206fs|SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.T499fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2224-2229)ccccgafs		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001589	frameshift_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935586_47935587insG	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2227dupC	19.37:g.47935592_47935592dupG	ENSP00000236877:p.Thr743fs		Somatic				SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs	p.R743fs	NM_015063.2	NP_055878.1	WXS	Illumina GAIIx	Phase_I	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2621_2622	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	743					B4DYQ9	Frame_Shift_Ins	INS	ENST00000236877.6	37	c.2226_2227insC	CCDS33065.1																																																																																				0.649	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			13	665						13	665	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(889-891)gaafs		family with sequence similarity 83, member E																																				SO:0001589	frameshift_variant	54854							g.chr19:49107037_49107038insG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.890dupC	19.37:g.49107044_49107044dupG	ENSP00000263266:p.Gln297fs		Somatic					p.E297fs	NM_017708.3	NP_060178.2	WXS	Illumina GAIIx	Phase_I	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1078_1079	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	297					Q9NXK1	Frame_Shift_Ins	INS	ENST00000263266.3	37	c.889_890insC	CCDS42587.1																																																																																				0.723	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		13	66						13	66	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49364680	49364681	+	Frame_Shift_Ins	INS	-	-	G	rs369327643		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:49364680_49364681insG	ENST00000263265.6	-	5	898_899	c.343_344insC	c.(343-345)cgafs	p.R115fs	PLEKHA4_ENST00000596713.1_5'Flank|PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	115	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.R115R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCGCCGCCCTCGGGGGGCTCCC	0.604																																						ENST00000263265.6																			1	Substitution - coding silent(1)	p.R115R(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(343-345)aggfs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001589	frameshift_variant	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49364680_49364681insG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.344dupC	19.37:g.49364686_49364686dupG	ENSP00000263265:p.Arg115fs		Somatic				PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs	p.R115fs	NM_020904.2	NP_065955.2	WXS	Illumina GAIIx	Phase_I	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	5	898_899	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	115			PH.		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	ENST00000263265.6	37	c.343_344insC	CCDS12737.1																																																																																				0.604	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			9	362						9	362	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49937127	49937128	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:49937127_49937128insG	ENST00000221485.3	-	7	896		c.e7-2		SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.e7-2		solute carrier family 17 (vesicular glutamate transporter), member 7				5,4257		0,5,2126						4.3	1.0			30	3,8251		0,3,4124	no	splice-3	SLC17A7	NM_020309.3		0,8,6250	A1A1,A1R,RR		0.0363,0.1173,0.0639				8,12508				SO:0001630	splice_region_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937127_49937128insG	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.725-2->C	19.37:g.49937134_49937134dupG			Somatic				SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site		NM_020309.3	NP_064705.1	WXS	Illumina GAIIx	Phase_I	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	7	896	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)						B4DFR9|B4DG46|Q6PCD0	Splice_Site	INS	ENST00000221485.3	37		CCDS12764.1																																																																																				0.678	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		Intron	7	127						7	127	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)cggfs	p.R102fs	CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.R102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGGGCTCCGGGGGGTCCTG	0.673																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(304-306)gggfs		carnitine palmitoyltransferase 1C																																				SO:0001589	frameshift_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50203963_50203964insG	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.310dupG	19.37:g.50203969_50203969dupG	ENSP00000376303:p.Arg102fs		Somatic				CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.G102fs	p.G102fs	NM_001199752.1	NP_001186681.1	WXS	Illumina GAIIx	Phase_I	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	5	676_677	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	102					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Frame_Shift_Ins	INS	ENST00000392518.4	37	c.304_305insG	CCDS12779.1																																																																																				0.673	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		11	691						11	691	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		41	882						41	882	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1723-1725)gggfs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243087_50243088insC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1725dupG	19.37:g.50243093_50243093dupC	ENSP00000246801:p.Gly575fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	p.G575fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1806_1807	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1724_1725insG	CCDS12780.1																																																																																				0.554	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		12	1179						12	1179	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs		Somatic				NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		13	217						13	217	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50863077	50863078	+	Frame_Shift_Ins	INS	-	-	C	rs140973133|rs151042743		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50863077_50863078insC	ENST00000253719.2	-	6	918_919	c.710_711insG	c.(709-711)ggcfs	p.G237fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	237					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CCGGGTCCGAGCCCCCCAGGAC	0.629																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(709-711)gtcfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50863077_50863078insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.711dupG	19.37:g.50863083_50863083dupC	ENSP00000253719:p.Gly237fs		Somatic				NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.V237fs	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	6	918_919	-		all_neural(266;0.057)	237					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.710_711insG	CCDS12794.1																																																																																				0.629	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		8	258						8	258	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905323	50905324	+	Frame_Shift_Ins	INS	-	-	G	rs140707092|rs150702648		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50905323_50905324insG	ENST00000440232.2	+	5	584_585	c.531_532insG	c.(532-534)gggfs	p.G178fs	POLD1_ENST00000599857.1_Frame_Shift_Ins_p.G178fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.G178fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	178					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			1	Substitution - coding silent(1)	p.R177R(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(529-534)cgggggfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit																																				SO:0001589	frameshift_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905323_50905324insG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.537dupG	19.37:g.50905329_50905329dupG	ENSP00000406046:p.Gly178fs		Somatic				POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs	p.RG177fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	WXS	Illumina GAIIx	Phase_I	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	5	584_585	+		all_neural(266;0.0571)	177		R -> H (in dbSNP:rs3218750).			Q8NER3|Q96H98	Frame_Shift_Ins	INS	ENST00000440232.2	37	c.531_532insG	CCDS12795.1																																																																																				0.673	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			8	313						8	313	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		21	431						21	431	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs		Somatic				ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	WXS	Illumina GAIIx	Phase_I	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		10	764						10	764	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53643875	53643876	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:53643875_53643876insT	ENST00000334197.7	-	5	2273_2274	c.2205_2206insA	c.(2203-2208)aaacctfs	p.P736fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Ins_p.P737fs|ZNF347_ENST00000452676.2_Frame_Shift_Ins_p.P737fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	736					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAAGGTTTTTTTCCAG	0.421																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2206-2211)aacttafs		zinc finger protein 347																																				SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643875_53643876insT	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2206dupA	19.37:g.53643882_53643882dupT	ENSP00000334146:p.Pro736fs		Somatic				ZNF347_ENST00000334197.7_Frame_Shift_Ins_p.N735fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Ins_p.N736fs	p.N736fs	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2634_2635	-			735					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Ins	INS	ENST00000334197.7	37	c.2208_2209insA	CCDS33097.1																																																																																				0.421	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		13	1336						13	1336	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs		Somatic				CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs	p.P242fs			WXS	Illumina GAIIx	Phase_I	O75175	CNOT3_HUMAN			8	2327_2328	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		242					Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.724_725insC	CCDS12880.1																																																																																				0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		19	285						19	285	---	---	---	---
SYT5	6861	broad.mit.edu	37	19	55686684	55686685	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:55686684_55686685insC	ENST00000354308.3	-	6	932_933	c.563_564insG	c.(562-564)ggcfs	p.G188fs	SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Frame_Shift_Ins_p.G188fs|SYT5_ENST00000590851.1_Frame_Shift_Ins_p.G185fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	188	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGCACCCTGCCCCCCAGCTC	0.629																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(562-564)gagfs		synaptotagmin V																																				SO:0001589	frameshift_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686684_55686685insC	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.564dupG	19.37:g.55686690_55686690dupC	ENSP00000346265:p.Gly188fs		Somatic				SYT5_ENST00000537500.1_Frame_Shift_Ins_p.E188fs|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Frame_Shift_Ins_p.E185fs	p.E188fs	NM_003180.2	NP_003171.2	WXS	Illumina GAIIx	Phase_I	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	932_933	-			188			C2 1.		B3KWJ8|B7Z300|Q86X72	Frame_Shift_Ins	INS	ENST00000354308.3	37	c.563_564insG	CCDS12919.1																																																																																				0.629	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		8	234						8	234	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56244406	56244406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:56244406delT	ENST00000332836.2	-	2	818	c.791delA	c.(790-792)aagfs	p.K264fs		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	264	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGAAGCATCTTTTTTTGCAA	0.413																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(790-792)agfs		NLR family, pyrin domain containing 9							59.0	59.0	59.0					19																	56244406		2203	4300	6503	SO:0001589	frameshift_variant	338321					cytoplasm	ATP binding	g.chr19:56244406delT	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.791delA	19.37:g.56244406delT	ENSP00000331857:p.Lys264fs		Somatic					p.K264fs	NM_176820.2	NP_789790.2	WXS	Illumina GAIIx	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	818	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	264			NACHT.		B2RN12|Q86W27	Frame_Shift_Del	DEL	ENST00000332836.2	37	c.791delA	CCDS12934.1																																																																																				0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		9	235						9	235	---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58639611	58639611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:58639611delA	ENST00000598312.1	-	4	1493	c.1260delT	c.(1258-1260)attfs	p.I420fs	ZNF329_ENST00000358067.4_Frame_Shift_Del_p.I420fs	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	420					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CGCCAGTATGAATCCTCTGAT	0.473																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(1258-1260)atfs		zinc finger protein 329							79.0	68.0	72.0					19																	58639611		2203	4300	6503	SO:0001589	frameshift_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639611delA	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1260delT	19.37:g.58639611delA	ENSP00000470008:p.Ile420fs		Somatic				ZNF329_ENST00000358067.4_Frame_Shift_Del_p.I420fs	p.I420fs	NM_024620.3	NP_078896.3	WXS	Illumina GAIIx	Phase_I	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1493	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	420					B3KR32|Q9H9R7	Frame_Shift_Del	DEL	ENST00000598312.1	37	c.1260delT	CCDS12972.1																																																																																				0.473	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		13	186						13	186	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-786)ctccccfs	p.LP261fs	PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.LP261fs|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(781-783)cccfs		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)																																				SO:0001589	frameshift_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145690_1145691insC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.788dupC	20.37:g.1145696_1145696dupC	ENSP00000338039:p.Leu261fs		Somatic				PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000438768.2_Intron	p.P261fs	NM_006814.3	NP_006805.2	WXS	Illumina GAIIx	Phase_I	Q92530	PSMF1_HUMAN			7	958_959	+			261			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Frame_Shift_Ins	INS	ENST00000335877.6	37	c.782_783insC	CCDS13010.1																																																																																				0.579	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		40	1338						40	1338	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)cagfs	p.Q266fs	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.Q235fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.Q155fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(796-798)ggtfs		NSFL1 (p97) cofactor (p47)																																				SO:0001589	frameshift_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426464_1426465insG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.797dupC	20.37:g.1426470_1426470dupG	ENSP00000216879:p.Gln266fs		Somatic				NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs	p.G266fs	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			8	1663_1664	-			266					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Frame_Shift_Ins	INS	ENST00000216879.4	37	c.796_797insC	CCDS13015.1																																																																																				0.510	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		9	550						9	550	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3564725	3564726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:3564725_3564726insC	ENST00000262919.5	+	17	3013_3014	c.2945_2946insC	c.(2944-2949)tgccccfs	p.CP982fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.CP982fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	982	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGAGCACCTGCCCCCGTAAGT	0.52																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2944-2946)tccfs		attractin																																				SO:0001589	frameshift_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3564725_3564726insC	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2951dupC	20.37:g.3564730_3564730dupC	ENSP00000262919:p.Cys982fs		Somatic				ATRN_ENST00000446916.2_Frame_Shift_Ins_p.S982fs	p.S982fs	NM_139321.2	NP_647537.1	WXS	Illumina GAIIx	Phase_I	O75882	ATRN_HUMAN			17	3013_3014	+			982			PSI 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Frame_Shift_Ins	INS	ENST00000262919.5	37	c.2945_2946insC	CCDS13053.1																																																																																				0.520	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		8	1530						8	1530	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.R301fs	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673																																						ENST00000305958.4																			1	Substitution - Missense(1)	p.R301W(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(901-903)gggfs		spermine oxidase	Spermine(DB00127)																																			SO:0001589	frameshift_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163027_4163028insG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.908dupG	20.37:g.4163034_4163034dupG	ENSP00000307252:p.Arg301fs		Somatic				SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron	p.G301fs	NM_175839.1	NP_787033.1	WXS	Illumina GAIIx	Phase_I	Q9NWM0	SMOX_HUMAN			5	1126_1127	+			301		R -> P (in dbSNP:rs6084654).			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Frame_Shift_Ins	INS	ENST00000305958.4	37	c.901_902insG	CCDS13075.1																																																																																				0.673	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		9	138						9	138	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9523310	9523311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:9523310_9523311insG	ENST00000378429.3	-	10	2472_2473	c.1926_1927insC	c.(1924-1929)ccctacfs	p.Y643fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.Y643fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.Y643fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCATTGAAGTAGGGGGGCTCGC	0.53																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1924-1929)ccacttfs		p21 protein (Cdc42/Rac)-activated kinase 7																																				SO:0001589	frameshift_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9523310_9523311insG	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1927dupC	20.37:g.9523316_9523316dupG	ENSP00000367686:p.Tyr643fs		Somatic				PAK7_ENST00000353224.5_Frame_Shift_Ins_p.L643fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.L643fs	p.L643fs	NM_020341.3	NP_065074.1	WXS	Illumina GAIIx	Phase_I	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		10	2472_2473	-			643			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Frame_Shift_Ins	INS	ENST00000378429.3	37	c.1926_1927insC	CCDS13107.1																																																																																				0.530	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			7	296						7	296	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23472375	23472376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:23472375_23472376insA	ENST00000246012.1	+	2	428_429	c.71_72insA	c.(70-75)ccaaaafs	p.PK24fs		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	24					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGAAAGACCCAAAAAAGAATG	0.54																																						ENST00000246012.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16						c.(70-72)caafs		cystatin 8 (cystatin-related epididymal specific)																																				SO:0001589	frameshift_variant	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472375_23472376insA	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.77dupA	20.37:g.23472381_23472381dupA	ENSP00000246012:p.Pro24fs		Somatic					p.Q24fs	NM_005492.2	NP_005483.1	WXS	Illumina GAIIx	Phase_I	O60676	CST8_HUMAN			2	428_429	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		24					Q2M2X6	Frame_Shift_Ins	INS	ENST00000246012.1	37	c.71_72insA	CCDS13156.1																																																																																				0.540	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			8	404						8	404	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs		Somatic					p.E81fs	NM_001899.2	NP_001890.1	WXS	Illumina GAIIx	Phase_I	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		47	505						47	505	---	---	---	---
CCM2L	140706	broad.mit.edu	37	20	30602811	30602812	+	Frame_Shift_Ins	INS	-	-	C	rs376303876		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:30602811_30602812insC	ENST00000300415.8	+	2	148_149	c.135_136insC	c.(136-138)cccfs	p.P46fs	CCM2L_ENST00000262659.8_Frame_Shift_Ins_p.P46fs			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	46																	TGCCCCTTTATCCCCCCGACTA	0.629																																						ENST00000300415.8																			0											c.(133-138)taccccfs		cerebral cavernous malformation 2-like																																				SO:0001589	frameshift_variant	140706							g.chr20:30602811_30602812insC	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.141dupC	20.37:g.30602817_30602817dupC	ENSP00000300415:p.Pro46fs		Somatic				CCM2L_ENST00000262659.8_Frame_Shift_Ins_p.YP45fs	p.YP45fs			WXS	Illumina GAIIx	Phase_I					2	148_149	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Frame_Shift_Ins	INS	ENST00000300415.8	37	c.135_136insC																																																																																					0.629	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		8	643						8	643	---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33502205	33502206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:33502205_33502206insC	ENST00000360596.2	+	7	1010_1011	c.799_800insC	c.(799-801)tccfs	p.S267fs	ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.S267fs|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.S217fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	267					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCAGCCAGTCCCCCCCAATT	0.535																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(799-801)cccfs		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33502205_33502206insC	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.806dupC	20.37:g.33502212_33502212dupC	ENSP00000353804:p.Ser267fs		Somatic				ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.P267fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.P217fs|ACSS2_ENST00000476922.1_Intron	p.P267fs	NM_018677.3	NP_061147.1	WXS	Illumina GAIIx	Phase_I	Q9NR19	ACSA_HUMAN			7	1010_1011	+			267					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Frame_Shift_Ins	INS	ENST00000360596.2	37	c.799_800insC	CCDS13243.1																																																																																				0.535	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		8	129						8	129	---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33508359	33508360	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:33508359_33508360insG	ENST00000360596.2	+	9	1201_1202	c.990_991insG	c.(991-993)gggfs	p.G331fs	ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.G344fs|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.G281fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	331					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCACACAGTTGGGGGCTACAT	0.53																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(988-993)gtggggfs		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33508359_33508360insG	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.995dupG	20.37:g.33508364_33508364dupG	ENSP00000353804:p.Gly331fs		Somatic				ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.VG343fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.VG280fs|ACSS2_ENST00000476922.1_Intron	p.VG330fs	NM_018677.3	NP_061147.1	WXS	Illumina GAIIx	Phase_I	Q9NR19	ACSA_HUMAN			9	1201_1202	+			330					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Frame_Shift_Ins	INS	ENST00000360596.2	37	c.990_991insG	CCDS13243.1																																																																																				0.530	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		7	1050						7	1050	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1668)ctccccfs	p.LP555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.LP551fs			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	CAGAAATACCTCCCCCCATTGA	0.455																																						ENST00000373973.3																			0											c.(1663-1665)cccfs		cyclic nucleotide binding domain containing 2																																				SO:0001589	frameshift_variant	140894							g.chr20:34618503_34618504insC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1670dupC	20.37:g.34618509_34618509dupC	ENSP00000363084:p.Leu555fs		Somatic				CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs	p.P555fs			WXS	Illumina GAIIx	Phase_I					12	1837_1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Ins	INS	ENST00000373973.3	37	c.1664_1665insC																																																																																					0.455	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		14	1230						14	1230	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34782216	34782217	+	Frame_Shift_Ins	INS	-	-	G	rs141329083		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:34782216_34782217insG	ENST00000338074.2	+	12	1544_1545	c.1383_1384insG	c.(1384-1386)gggfs	p.G462fs	EPB41L1_ENST00000373946.3_Frame_Shift_Ins_p.G431fs|EPB41L1_ENST00000202028.5_Frame_Shift_Ins_p.G400fs|EPB41L1_ENST00000373950.2_Frame_Shift_Ins_p.G365fs|EPB41L1_ENST00000441639.1_Frame_Shift_Ins_p.G400fs|EPB41L1_ENST00000373941.1_Frame_Shift_Ins_p.G462fs	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	462					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATGGCGAGTCTGGGGGGCAACG	0.594																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1381-1386)tcggggfs		erythrocyte membrane protein band 4.1-like 1																																				SO:0001589	frameshift_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34782216_34782217insG	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1389dupG	20.37:g.34782222_34782222dupG	ENSP00000337168:p.Gly462fs		Somatic				EPB41L1_ENST00000373941.1_Frame_Shift_Ins_p.SG461fs|EPB41L1_ENST00000441639.1_Frame_Shift_Ins_p.SG399fs|EPB41L1_ENST00000202028.5_Frame_Shift_Ins_p.SG399fs|EPB41L1_ENST00000373946.3_Frame_Shift_Ins_p.SG430fs|EPB41L1_ENST00000373950.2_Frame_Shift_Ins_p.SG364fs	p.SG461fs	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	WXS	Illumina GAIIx	Phase_I	Q9H4G0	E41L1_HUMAN			12	1544_1545	+	Breast(12;0.0239)		461					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Frame_Shift_Ins	INS	ENST00000338074.2	37	c.1383_1384insG	CCDS13271.1																																																																																				0.594	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		10	400						10	400	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs		Somatic				RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		23	229						23	229	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37650553	37650554	+	Frame_Shift_Ins	INS	-	-	C	rs142673637		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37650553_37650554insC	ENST00000252011.3	+	16	1601_1602	c.1568_1569insC	c.(1567-1572)gtccccfs	p.VP523fs	DHX35_ENST00000373325.2_Frame_Shift_Ins_p.VP523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.VP492fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	523					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATCTTTGTGGTCCCCCCAAACC	0.455																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1567-1569)gccfs		DEAH (Asp-Glu-Ala-His) box polypeptide 35																																				SO:0001589	frameshift_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37650553_37650554insC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1574dupC	20.37:g.37650559_37650559dupC	ENSP00000252011:p.Val523fs		Somatic				DHX35_ENST00000373325.2_Frame_Shift_Ins_p.A523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.A492fs	p.A523fs	NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			16	1601_1602	+		Myeloproliferative disorder(115;0.00878)	523					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Ins	INS	ENST00000252011.3	37	c.1568_1569insC	CCDS13310.1																																																																																				0.455	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		9	680						9	680	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39830891	39830892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:39830891_39830892insC	ENST00000309060.3	-	4	3080_3081	c.2665_2666insG	c.(2665-2667)gagfs	p.E889fs	ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.E889fs|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.E889fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.E889fs|ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.E889fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	889					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGGTCTCCTCCCCCATTTTC	0.554																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2665-2667)ggafs		zinc fingers and homeoboxes 3																																				SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830891_39830892insC	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2666dupG	20.37:g.39830896_39830896dupC	ENSP00000312222:p.Glu889fs		Somatic				ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron	p.G889fs			WXS	Illumina GAIIx	Phase_I	Q9H4I2	ZHX3_HUMAN			4	3080_3081	-		Myeloproliferative disorder(115;0.00425)	889					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Ins	INS	ENST00000309060.3	37	c.2665_2666insG	CCDS13315.1																																																																																				0.554	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		10	1546						10	1546	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs		Somatic					p.CP208fs	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		15	369						15	369	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs		Somatic					p.F103fs	NM_003064.2	NP_003055.1	WXS	Illumina GAIIx	Phase_I	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			29	339						29	339	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C	rs530768714|rs569625672		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)gccfs	p.A346fs	PIGT_ENST00000545755.1_Frame_Shift_Ins_p.A84fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.A244fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.A290fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.A191fs|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.A152fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1036-1038)cccfs		phosphatidylinositol glycan anchor biosynthesis, class T																																				SO:0001589	frameshift_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44050025_44050026insC		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1043dupC	20.37:g.44050032_44050032dupC	ENSP00000279036:p.Ala346fs		Somatic				PIGT_ENST00000372689.5_Intron|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs	p.P346fs	NM_015937.5	NP_057021.2	WXS	Illumina GAIIx	Phase_I	Q969N2	PIGT_HUMAN			9	1116_1117	+		Myeloproliferative disorder(115;0.0122)	346					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Ins	INS	ENST00000279036.6	37	c.1036_1037insC	CCDS13353.1																																																																																				0.574	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		10	212						10	212	---	---	---	---
WFDC3	140686	broad.mit.edu	37	20	44404105	44404106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44404105_44404106insG	ENST00000243938.4	-	6	712_713	c.629_630insC	c.(628-630)ccafs	p.P210fs	WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.P116fs|WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.P73fs	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	210						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TGGTCAGTTTTGGGGGCAGGAC	0.48																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(628-630)caafs		WAP four-disulfide core domain 3																																				SO:0001589	frameshift_variant	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44404105_44404106insG	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.630dupC	20.37:g.44404110_44404110dupG	ENSP00000243938:p.Pro210fs		Somatic				WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.Q116fs|WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.Q73fs|WFDC3_ENST00000481847.1_5'UTR	p.Q210fs	NM_080614.1	NP_542181.1	WXS	Illumina GAIIx	Phase_I	Q8IUB2	WFDC3_HUMAN			6	712_713	-		Myeloproliferative disorder(115;0.0122)	210					A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Frame_Shift_Ins	INS	ENST00000243938.4	37	c.629_630insC	CCDS33478.1																																																																																				0.480	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			10	1288						10	1288	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44680421_44680422insG	ENST00000454036.2	+	18	2407_2408	c.2358_2359insG	c.(2359-2361)gggfs	p.G787fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.G764fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	787					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2356-2361)ctggggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680421_44680422insG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2364dupG	20.37:g.44680427_44680427dupG	ENSP00000387694:p.Gly787fs		Somatic				SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	p.LG786fs	NM_001134771.1	NP_001128243.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			18	2434_2435	+		Myeloproliferative disorder(115;0.0122)	786					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.2358_2359insG	CCDS46610.1																																																																																				0.599	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			7	389						7	389	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47614920	47614921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:47614920_47614921insC	ENST00000371917.4	+	25	3310_3311	c.3310_3311insC	c.(3310-3312)tccfs	p.S1104fs	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1104					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGAACTGGCTTCCCCCCACCAT	0.505																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3310-3312)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47614920_47614921insC	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3316dupC	20.37:g.47614926_47614926dupC	ENSP00000360985:p.Ser1104fs		Somatic				ARFGEF2_ENST00000493140.1_3'UTR	p.P1104fs	NM_006420.2	NP_006411.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		25	3310_3311	+			1104					Q5TFT9|Q9NTS1	Frame_Shift_Ins	INS	ENST00000371917.4	37	c.3310_3311insC	CCDS13411.1																																																																																				0.505	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		7	576						7	576	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48522802	48522803	+	Frame_Shift_Ins	INS	-	-	G	rs201505755	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:48522802_48522803insG	ENST00000422556.1	-	3	1265_1266	c.916_917insC	c.(916-918)cacfs	p.H306fs	SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.H306fs|SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.H169fs	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	306					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGGCTGCCGTGGGGGGAGCTG	0.644																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(916-918)cggfs		spermatogenesis associated 2																																				SO:0001589	frameshift_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522802_48522803insG	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.917dupC	20.37:g.48522808_48522808dupG	ENSP00000416799:p.His306fs		Somatic				SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.R306fs|SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.R169fs	p.R306fs	NM_001135773.1	NP_001129245.1	WXS	Illumina GAIIx	Phase_I	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1265_1266	-	Hepatocellular(150;0.133)		306					E1P626|O94857	Frame_Shift_Ins	INS	ENST00000422556.1	37	c.916_917insC	CCDS13422.1																																																																																				0.644	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		7	331						7	331	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)tccfs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400982_50400983insC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2984dupG	20.37:g.50400989_50400989dupC	ENSP00000217086:p.Val995fs		Somatic				SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	p.S995fs	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			4	3094_3095	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.2983_2984insG	CCDS13438.1																																																																																				0.559	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			14	201						14	201	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408525	50408526	+	Frame_Shift_Ins	INS	-	-	G	rs146411998		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:50408525_50408526insG	ENST00000217086.4	-	2	607_608	c.496_497insC	c.(496-498)cagfs	p.Q166fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.Q166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	166					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTTATGTCCTGGGGGGTGGGT	0.574																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CI053665|CM042108	SALL4	I|M	rs146411998	c.(496-498)ggafs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408525_50408526insG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.497dupC	20.37:g.50408531_50408531dupG	ENSP00000217086:p.Gln166fs		Somatic				SALL4_ENST00000395997.3_Frame_Shift_Ins_p.G166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	p.G166fs	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			2	607_608	-			166					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.496_497insC	CCDS13438.1																																																																																				0.574	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			13	656						13	656	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51872444	51872445	+	Frame_Shift_Ins	INS	-	-	C	rs552622643		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:51872444_51872445insC	ENST00000371497.5	+	2	3334_3335	c.2447_2448insC	c.(2446-2451)gtccccfs	p.VP816fs	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.VP813fs|TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.VP813fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	816					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.55																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2446-2448)gccfs		teashirt zinc finger homeobox 2																																				SO:0001589	frameshift_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872444_51872445insC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2454dupC	20.37:g.51872451_51872451dupC	ENSP00000360552:p.Val816fs		Somatic				TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.A813fs|TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.A813fs	p.A816fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina GAIIx	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3334_3335	+			816					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Frame_Shift_Ins	INS	ENST00000371497.5	37	c.2447_2448insC	CCDS33490.1																																																																																				0.550	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		17	411						17	411	---	---	---	---
RAE1	8480	broad.mit.edu	37	20	55948625	55948626	+	Frame_Shift_Ins	INS	-	-	C	rs200250805	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:55948625_55948626insC	ENST00000395841.2	+	9	1157_1158	c.737_738insC	c.(736-741)aaccccfs	p.NP246fs	RAE1_ENST00000395840.2_Frame_Shift_Ins_p.NP246fs|RAE1_ENST00000527947.1_Frame_Shift_Ins_p.NP246fs|RAE1_ENST00000371242.2_Frame_Shift_Ins_p.NP246fs	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	246					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CACTATATCAACCCCCCGAACC	0.446																																						ENST00000395841.2																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(736-738)accfs		ribonucleic acid export 1																																				SO:0001589	frameshift_variant	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948625_55948626insC	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.743dupC	20.37:g.55948631_55948631dupC	ENSP00000379182:p.Asn246fs		Somatic				RAE1_ENST00000527947.1_Frame_Shift_Ins_p.T246fs|RAE1_ENST00000395840.2_Frame_Shift_Ins_p.T246fs|RAE1_ENST00000371242.2_Frame_Shift_Ins_p.T246fs	p.T246fs	NM_003610.3	NP_003601.1	WXS	Illumina GAIIx	Phase_I	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1157_1158	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		246					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Frame_Shift_Ins	INS	ENST00000395841.2	37	c.737_738insC	CCDS13458.1																																																																																				0.446	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			9	425						9	425	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58342388	58342389	+	Frame_Shift_Ins	INS	-	-	C	rs201118563		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:58342388_58342389insC	ENST00000371015.1	+	5	1156_1157	c.689_690insC	c.(688-693)agccccfs	p.SP230fs	PHACTR3_ENST00000359926.3_Frame_Shift_Ins_p.SP227fs|PHACTR3_ENST00000541461.1_Frame_Shift_Ins_p.SP189fs|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Frame_Shift_Ins_p.SP189fs|PHACTR3_ENST00000355648.4_Frame_Shift_Ins_p.SP189fs|PHACTR3_ENST00000395639.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	230	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGCTCCCCAGCCCCCCACTGC	0.594																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(688-690)accfs		phosphatase and actin regulator 3																																				SO:0001589	frameshift_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342388_58342389insC	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.695dupC	20.37:g.58342394_58342394dupC	ENSP00000360054:p.Ser230fs		Somatic				PHACTR3_ENST00000541461.1_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000395636.2_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000355648.4_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000359926.3_Frame_Shift_Ins_p.T227fs|PHACTR3_ENST00000361300.4_Intron	p.T230fs	NM_080672.3	NP_542403.1	WXS	Illumina GAIIx	Phase_I	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1156_1157	+	all_lung(29;0.00344)		230			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Frame_Shift_Ins	INS	ENST00000371015.1	37	c.689_690insC	CCDS13480.1																																																																																				0.594	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		7	390						7	390	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		Somatic				OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	p.P179fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		35	290						35	290	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60861749	60861750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:60861749_60861750insC	ENST00000313733.3	+	11	1309_1310	c.1107_1108insC	c.(1108-1110)cccfs	p.P370fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P358fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P278fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	370					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TCAACACCCGGCCCCCCAACTC	0.658																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1105-1110)cgccccfs		oxysterol binding protein-like 2																																				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60861749_60861750insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1113dupC	20.37:g.60861755_60861755dupC	ENSP00000316649:p.Pro370fs		Somatic				OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.RP277fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.RP357fs	p.RP369fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		11	1309_1310	+	Breast(26;7.76e-09)		369					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.1107_1108insC	CCDS13495.1																																																																																				0.658	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		7	226						7	226	---	---	---	---
AP001347.6	0	broad.mit.edu	37	21	15399926	15399927	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:15399926_15399927insG	ENST00000428809.1	+	0	177				AP001347.6_ENST00000448463.1_RNA|AP001347.6_ENST00000432621.1_RNA																							ATGGTGAGTGTGGGGGGCAGGG	0.604																																						ENST00000428809.1																			0																																																			0							g.chr21:15399926_15399927insG																													21.37:g.15399932_15399932dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	177	+									RNA	INS	ENST00000428809.1	37																																																																																						0.604	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			8	960						8	960	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32499452	32499452	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:32499452delA	ENST00000286827.3	-	27	4535	c.4064delT	c.(4063-4065)gtgfs	p.V1355fs	TIAM1_ENST00000541036.1_Frame_Shift_Del_p.V1295fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1355	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AATTTCACACACGGCATTTGC	0.443																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4063-4065)ggfs		T-cell lymphoma invasion and metastasis 1							128.0	120.0	122.0					21																	32499452		2203	4300	6503	SO:0001589	frameshift_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32499452delA		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4064delT	21.37:g.32499452delA	ENSP00000286827:p.Val1355fs		Somatic				TIAM1_ENST00000541036.1_Frame_Shift_Del_p.V1295fs	p.V1355fs	NM_003253.2	NP_003244.2	WXS	Illumina GAIIx	Phase_I	Q13009	TIAM1_HUMAN			27	4535	-			1355			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Frame_Shift_Del	DEL	ENST00000286827.3	37	c.4064delT	CCDS13609.1																																																																																				0.443	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		28	598						28	598	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41414355	41414356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:41414355_41414356insG	ENST00000400454.1	-	32	6105_6106	c.5628_5629insC	c.(5626-5631)cccaaafs	p.K1877fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1877					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTGAGGTTTGGGGGGAGATG	0.569																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5626-5631)ccaaccfs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41414355_41414356insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5629dupC	21.37:g.41414361_41414361dupG	ENSP00000383303:p.Lys1877fs		Somatic					p.T1877fs	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			32	6105_6106	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1877					O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.5628_5629insC	CCDS42929.1																																																																																				0.569	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	422						11	422	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs		Somatic					p.PK1092fs	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		38	1059						38	1059	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43411688	43411691	+	Frame_Shift_Del	DEL	GACG	GACG	-	rs553654791		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:43411688_43411691delGACG	ENST00000310826.5	-	3	2697_2700	c.2514_2517delCGTC	c.(2512-2517)atcgtcfs	p.IV838fs	ZBTB21_ENST00000398511.3_Frame_Shift_Del_p.IV838fs|ZBTB21_ENST00000398505.3_Frame_Shift_Del_p.IV637fs|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Frame_Shift_Del_p.IV838fs	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	838					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CTTTTGTGGTGACGATGTGGTTTA	0.471																																						ENST00000310826.5																			0											c.(2512-2517)atfs		zinc finger and BTB domain containing 21																																				SO:0001589	frameshift_variant	49854							g.chr21:43411688_43411691delGACG	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2514_2517delCGTC	21.37:g.43411688_43411691delGACG	ENSP00000308759:p.Ile838fs		Somatic				ZBTB21_ENST00000398511.3_Frame_Shift_Del_p.IV838fs|ZBTB21_ENST00000398499.1_Frame_Shift_Del_p.IV838fs|ZBTB21_ENST00000398505.3_Frame_Shift_Del_p.IV637fs|ZBTB21_ENST00000465968.1_5'UTR	p.IV838fs	NM_001098402.1	NP_001091872.1	WXS	Illumina GAIIx	Phase_I					3	2697_2700	-								Q5R2W1|Q5R2W2|Q6P4R0	Frame_Shift_Del	DEL	ENST00000310826.5	37	c.2514_2517delCGTC	CCDS13678.1																																																																																				0.471	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		30	850						30	850	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs		Somatic				PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs	p.I226fs	NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			12	1273						12	1273	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47685950	47685951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:47685950_47685951insG	ENST00000397708.1	-	12	3173_3174	c.2919_2920insC	c.(2917-2922)cccgtcfs	p.V974fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.V974fs			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	974	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGACGAGGGACGGGGGGCAATG	0.589																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2917-2922)cctcccfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47685950_47685951insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2920dupC	21.37:g.47685956_47685956dupG	ENSP00000380820:p.Val974fs		Somatic				MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.P974fs	p.P974fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			12	3173_3174	-	Breast(49;0.112)		974					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.2919_2920insC	CCDS13734.1																																																																																				0.589	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		15	1009						15	1009	---	---	---	---
TUBA8	51807	broad.mit.edu	37	22	18609265	18609266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:18609265_18609266insC	ENST00000330423.3	+	4	593_594	c.520_521insC	c.(520-522)gccfs	p.A174fs	TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.A108fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	174					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CATCTACCCAGCCCCCCAGGTC	0.545																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(520-522)cccfs		tubulin, alpha 8																																				SO:0001589	frameshift_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609265_18609266insC	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.526dupC	22.37:g.18609271_18609271dupC	ENSP00000333326:p.Ala174fs		Somatic				TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.P108fs	p.P174fs	NM_018943.2	NP_061816.1	WXS	Illumina GAIIx	Phase_I	Q9NY65	TBA8_HUMAN			4	593_594	+			174					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Frame_Shift_Ins	INS	ENST00000330423.3	37	c.520_521insC	CCDS13751.1																																																																																				0.545	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		12	929						12	929	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20819244	20819245	+	Frame_Shift_Ins	INS	-	-	G	rs571498391		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:20819244_20819245insG	ENST00000328879.4	-	4	1168_1169	c.1012_1013insC	c.(1012-1014)cgcfs	p.R338fs	KLHL22_ENST00000440659.2_Frame_Shift_Ins_p.R195fs	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	338					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGGACATGCGGGGGGCCAGG	0.574																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1012-1014)catfs		kelch-like family member 22																																				SO:0001589	frameshift_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819244_20819245insG		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1013dupC	22.37:g.20819250_20819250dupG	ENSP00000331682:p.Arg338fs		Somatic				KLHL22_ENST00000440659.2_Frame_Shift_Ins_p.H195fs	p.H338fs	NM_032775.3	NP_116164.2	WXS	Illumina GAIIx	Phase_I	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	1168_1169	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	338					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Frame_Shift_Ins	INS	ENST00000328879.4	37	c.1012_1013insC	CCDS13780.1																																																																																				0.574	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		10	308						10	308	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1053)gtggggfs	p.VG350fs	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGAATACGTGGGGGGCATCA	0.54											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1048-1050)gggfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138419_21138420insG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1055dupG	22.37:g.21138425_21138425dupG	ENSP00000215727:p.Val350fs		Somatic	OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	p.G350fs	NM_000185.3	NP_000176.2	WXS	Illumina GAIIx	Phase_I	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1332_1333	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	350					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.1049_1050insG	CCDS13783.1																																																																																				0.540	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		14	427						14	427	---	---	---	---
SNAP29	9342	broad.mit.edu	37	22	21224735	21224736	+	Frame_Shift_Ins	INS	-	-	G	rs113637255		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:21224735_21224736insG	ENST00000215730.7	+	2	476_477	c.348_349insG	c.(349-351)gggfs	p.G117fs		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	117					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)	p.L119fs*15(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGAGCGTGTTTGGGGGGCTGGT	0.505																																						ENST00000215730.6																			1	Insertion - Frameshift(1)	p.L119fs*15(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(346-351)ttggggfs		synaptosomal-associated protein, 29kDa				1,4263		0,1,2131						1.0	1.0			99	0,8254		0,0,4127	no	frameshift	SNAP29	NM_004782.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001589	frameshift_variant	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21224735_21224736insG	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.354dupG	22.37:g.21224741_21224741dupG	ENSP00000215730:p.Gly117fs		Somatic					p.LG116fs	NM_004782.3	NP_004773.1	WXS	Illumina GAIIx	Phase_I	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		2	476_477	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	116						Frame_Shift_Ins	INS	ENST00000215730.7	37	c.348_349insG	CCDS13784.1																																																																																				0.505	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		10	503						10	503	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)ccafs	p.P143fs	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					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(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(427-429)cggfs		zinc finger protein 280A																																				SO:0001589	frameshift_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869526_22869527insG	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.429dupC	22.37:g.22869532_22869532dupG	ENSP00000302855:p.Pro143fs		Somatic					p.R143fs	NM_080740.3	NP_542778.1	WXS	Illumina GAIIx	Phase_I	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	680_681	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	143						Frame_Shift_Ins	INS	ENST00000302097.3	37	c.428_429insC	CCDS13800.1																																																																																				0.455	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		11	376						11	376	---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24135858	24135859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:24135858_24135859insC	ENST00000263121.7	+	3	541_542	c.345_346insC	c.(346-348)cccfs	p.P116fs	SMARCB1_ENST00000344921.6_Frame_Shift_Ins_p.P107fs|SMARCB1_ENST00000407422.3_Frame_Shift_Ins_p.P107fs|SMARCB1_ENST00000407082.3_Frame_Shift_Ins_p.P116fs	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	116	DNA-binding. {ECO:0000255}.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.T118fs*25(1)|p.P116T(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCAGCACAGAGCCCCCCACCTA	0.53			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		4	Unknown(2)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.?(2)|p.T118fs*25(1)|p.P116T(1)	soft_tissue(3)|pancreas(1)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(316-321)gaccccfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1																																				SO:0001589	frameshift_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24135858_24135859insC	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.351dupC	22.37:g.24135864_24135864dupC	ENSP00000263121:p.Pro116fs		Somatic				SMARCB1_ENST00000407082.3_Frame_Shift_Ins_p.DP115fs|SMARCB1_ENST00000263121.7_Frame_Shift_Ins_p.DP115fs|SMARCB1_ENST00000407422.3_Frame_Shift_Ins_p.DP106fs	p.DP106fs			WXS	Illumina GAIIx	Phase_I	Q12824	SNF5_HUMAN			3	525_526	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	115			DNA-binding (Potential).		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Ins	INS	ENST00000263121.7	37	c.318_319insC	CCDS13817.1																																																																																				0.530	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		9	349						9	349	---	---	---	---
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G	rs201336246	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-924)gtggggfs	p.VG307fs	HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(919-921)gggfs		aspartate beta-hydroxylase domain containing 2																																				SO:0001589	frameshift_variant	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26838458_26838459insG	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.926dupG	22.37:g.26838464_26838464dupG	ENSP00000215906:p.Val307fs		Somatic					p.G307fs	NM_020437.4	NP_065170.2	WXS	Illumina GAIIx	Phase_I	Q6ICH7	ASPH2_HUMAN			3	1358_1359	+			307					B2RCH3|Q7L0W3|Q9NSN3	Frame_Shift_Ins	INS	ENST00000215906.5	37	c.920_921insG	CCDS13834.2																																																																																				0.559	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		10	829						10	829	---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26895459	26895460	+	Frame_Shift_Ins	INS	-	-	G	rs555491538		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:26895459_26895460insG	ENST00000407690.1	-	9	1222_1223	c.939_940insC	c.(937-942)cccggcfs	p.G314fs	TFIP11_ENST00000407431.1_Frame_Shift_Ins_p.G314fs|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Frame_Shift_Ins_p.G314fs|TFIP11_ENST00000405938.1_Frame_Shift_Ins_p.G314fs	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	314					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCGCGAAGCCGGGGGCCTTGG	0.604																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(937-942)ccgcttfs		tuftelin interacting protein 11																																				SO:0001589	frameshift_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26895459_26895460insG	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.940dupC	22.37:g.26895464_26895464dupG	ENSP00000384421:p.Gly314fs		Somatic				TFIP11_ENST00000407148.1_Frame_Shift_Ins_p.L314fs|TFIP11_ENST00000405938.1_Frame_Shift_Ins_p.L314fs|TFIP11_ENST00000407431.1_Frame_Shift_Ins_p.L314fs	p.L314fs	NM_012143.2	NP_036275.1	WXS	Illumina GAIIx	Phase_I	Q9UBB9	TFP11_HUMAN			9	1222_1223	-			314					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Frame_Shift_Ins	INS	ENST00000407690.1	37	c.939_940insC	CCDS13838.1																																																																																				0.604	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		7	377						7	377	---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)cccaagfs	p.K252fs	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(751-756)ccagtgfs		crystallin, beta B1																																				SO:0001589	frameshift_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995459_26995460insG		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.754dupC	22.37:g.26995465_26995465dupG	ENSP00000215939:p.Lys252fs		Somatic					p.V252fs	NM_001887.3	NP_001878.1	WXS	Illumina GAIIx	Phase_I	P53674	CRBB1_HUMAN			6	883_884	-			252			C-terminal arm.			Frame_Shift_Ins	INS	ENST00000215939.2	37	c.753_754insC	CCDS13840.1																																																																																				0.554	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		14	299						14	299	---	---	---	---
HSCB	150274	broad.mit.edu	37	22	29140666	29140667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:29140666_29140667insC	ENST00000216027.3	+	3	462_463	c.397_398insC	c.(397-399)gccfs	p.A133fs	CHEK2_ENST00000382578.1_5'Flank|HSCB_ENST00000495977.1_3'UTR|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000328354.6_5'Flank|HSCB_ENST00000398941.2_Frame_Shift_Ins_p.A133fs|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000544772.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	133	J.				iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GACCCTCCTGGCCCCCCTGAGC	0.49																																						ENST00000216027.3																			0				kidney(1)|lung(2)|skin(1)	4						c.(397-399)cccfs		HscB mitochondrial iron-sulfur cluster co-chaperone																																				SO:0001589	frameshift_variant	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29140666_29140667insC	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.403dupC	22.37:g.29140672_29140672dupC	ENSP00000216027:p.Ala133fs		Somatic				HSCB_ENST00000398941.2_Frame_Shift_Ins_p.P133fs|HSCB_ENST00000495977.1_3'UTR	p.P133fs	NM_172002.3	NP_741999.3	WXS	Illumina GAIIx	Phase_I	Q8IWL3	HSC20_HUMAN			3	462_463	+			133			J.		Q9BWS7	Frame_Shift_Ins	INS	ENST00000216027.3	37	c.397_398insC	CCDS13845.1																																																																																				0.490	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		11	1466						11	1466	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG			Somatic				THOC5_ENST00000397872.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397871.1_Splice_Site		NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	10	360						10	360	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30221170	30221171	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:30221170_30221171insC	ENST00000397771.2	-	5	493_494	c.316_317insG	c.(316-318)gtgfs	p.V106fs	ASCC2_ENST00000542393.1_Frame_Shift_Ins_p.V53fs|ASCC2_ENST00000307790.3_Frame_Shift_Ins_p.V106fs			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCTGAGGCCACCCCCTCGTCG	0.545																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(316-318)ggcfs		activating signal cointegrator 1 complex subunit 2																																				SO:0001589	frameshift_variant	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30221170_30221171insC	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.317dupG	22.37:g.30221175_30221175dupC	ENSP00000380877:p.Val106fs		Somatic				ASCC2_ENST00000542393.1_Frame_Shift_Ins_p.G53fs|ASCC2_ENST00000307790.3_Frame_Shift_Ins_p.G106fs	p.G106fs			WXS	Illumina GAIIx	Phase_I	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		5	493_494	-			106					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Frame_Shift_Ins	INS	ENST00000397771.2	37	c.316_317insG	CCDS13869.1																																																																																				0.545	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		7	844						7	844	---	---	---	---
SLC35E4	339665	broad.mit.edu	37	22	31032723	31032724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:31032723_31032724insG	ENST00000343605.4	+	1	1085_1086	c.286_287insG	c.(286-288)cggfs	p.R96fs	SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.R96fs|SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.R96fs	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGCATGCCACCGGGGGGCACGG	0.663																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(286-288)gggfs		solute carrier family 35, member E4																																				SO:0001589	frameshift_variant	339665					integral to membrane		g.chr22:31032723_31032724insG		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.292dupG	22.37:g.31032729_31032729dupG	ENSP00000339626:p.Arg96fs		Somatic				SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs	p.G96fs	NM_001001479.2	NP_001001479.1	WXS	Illumina GAIIx	Phase_I	Q6ICL7	S35E4_HUMAN			1	1085_1086	+			96					Q567P0	Frame_Shift_Ins	INS	ENST00000343605.4	37	c.286_287insG	CCDS13882.1																																																																																				0.663	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		9	596						9	596	---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31322794	31322795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:31322794_31322795insC	ENST00000397641.3	-	26	3502_3503	c.3094_3095insG	c.(3094-3096)gacfs	p.D1032fs	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Frame_Shift_Ins_p.D970fs|MORC2-AS1_ENST00000422995.2_RNA|MORC2-AS1_ENST00000609557.1_RNA|MORC2-AS1_ENST00000432624.2_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	1032						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D970Y(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTGCCTTCAGTCCCCCTTGGTG	0.584																																						ENST00000215862.4																			1	Substitution - Missense(1)	p.D970Y(1)	kidney(1)	breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2908-2910)ctgfs		MORC family CW-type zinc finger 2																																				SO:0001589	frameshift_variant	22880						ATP binding|zinc ion binding	g.chr22:31322794_31322795insC	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.3095dupG	22.37:g.31322799_31322799dupC	ENSP00000380763:p.Asp1032fs		Somatic				MORC2_ENST00000397641.2_Frame_Shift_Ins_p.L1032fs|MORC2-AS1_ENST00000441558.1_RNA	p.L970fs	NM_014941.1	NP_055756.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X9	MORC2_HUMAN			27	4271_4272	-			1032					B2RNB1|Q9UF28|Q9Y6V2	Frame_Shift_Ins	INS	ENST00000397641.3	37	c.2908_2909insG																																																																																					0.584	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		7	698						7	698	---	---	---	---
TIMP3	7078	broad.mit.edu	37	22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)gccfs	p.A199fs	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604																																						ENST00000266085.6																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(595-597)cccfs		TIMP metallopeptidase inhibitor 3																																				SO:0001589	frameshift_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255323_33255324insC		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.602dupC	22.37:g.33255330_33255330dupC	ENSP00000266085:p.Ala199fs		Somatic				SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	p.P199fs	NM_000362.4	NP_000353.1	WXS	Illumina GAIIx	Phase_I	P35625	TIMP3_HUMAN			5	896_897	+			199					B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Frame_Shift_Ins	INS	ENST00000266085.6	37	c.595_596insC	CCDS13911.1																																																																																				0.604	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		10	196						10	196	---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38258974	38258975	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:38258974_38258975insG	ENST00000412331.2	+	6	1017		c.e6-1		EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Splice_Site|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTTCTTTACAGGGGGGACCTT	0.381																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e6-1		eukaryotic translation initiation factor 3, subunit L																																				SO:0001630	splice_region_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38258974_38258975insG	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.436-1->G	22.37:g.38258980_38258980dupG			Somatic				EIF3L_ENST00000406934.1_Splice_Site|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron		NM_016091.3	NP_057175.1	WXS	Illumina GAIIx	Phase_I	Q9Y262	EIF3L_HUMAN			6	1017	+									Splice_Site	INS	ENST00000412331.2	37		CCDS13960.1																																																																																				0.381	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Intron	7	141						7	141	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917921	39917922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:39917921_39917922insC	ENST00000337304.2	+	2	1252_1253	c.370_371insC	c.(370-372)gccfs	p.A124fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.A124fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.A124fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	124					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TGATCTCTTTGCCCCCCTAGTC	0.52																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(370-372)cccfs		activating transcription factor 4																																				SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917921_39917922insC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.376dupC	22.37:g.39917927_39917927dupC	ENSP00000336790:p.Ala124fs		Somatic				ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P124fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P124fs	p.P124fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	P18848	ATF4_HUMAN			2	1252_1253	+	Melanoma(58;0.04)		124					Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	c.370_371insC	CCDS13996.1																																																																																				0.520	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		13	967						13	967	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.45																																						ENST00000454349.2																			0				breast(1)	1						c.(3700-3702)cccfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40681766_40681767insC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3706dupC	22.37:g.40681772_40681772dupC	ENSP00000401946:p.Ser1234fs		Somatic				TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs	p.P1234fs	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			12	3911_3912	+			1234					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.3700_3701insC	CCDS54533.1																																																																																				0.450	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				15	846						15	846	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs		Somatic				RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		18	270						18	270	---	---	---	---
L3MBTL2	83746	broad.mit.edu	37	22	41621833	41621834	+	Frame_Shift_Ins	INS	-	-	G	rs138256505|rs374537053	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:41621833_41621834insG	ENST00000216237.5	+	12	1550_1551	c.1392_1393insG	c.(1393-1395)gggfs	p.G465fs		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	465					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGTGTGGACGGGGGGCCCTC	0.574																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1390-1395)gaggggfs		l(3)mbt-like 2 (Drosophila)																																				SO:0001589	frameshift_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621833_41621834insG	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1398dupG	22.37:g.41621839_41621839dupG	ENSP00000216237:p.Gly465fs		Somatic					p.EG464fs	NM_031488.4	NP_113676.2	WXS	Illumina GAIIx	Phase_I	Q969R5	LMBL2_HUMAN			12	1550_1551	+			464					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Frame_Shift_Ins	INS	ENST00000216237.5	37	c.1392_1393insG	CCDS14011.1																																																																																				0.574	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		12	528						12	528	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650366	41650366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:41650366delC	ENST00000455915.2	-	10	2675	c.1206delG	c.(1204-1206)gggfs	p.G402fs	RANGAP1_ENST00000405486.1_Frame_Shift_Del_p.G402fs|RANGAP1_ENST00000407260.4_Frame_Shift_Del_p.G347fs|RANGAP1_ENST00000356244.3_Frame_Shift_Del_p.G402fs			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	402					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCTCCCTGCCCTCGCTGCT	0.547																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1204-1206)ggfs		Ran GTPase activating protein 1							294.0	198.0	230.0					22																	41650366		2203	4300	6503	SO:0001589	frameshift_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650366delC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1206delG	22.37:g.41650366delC	ENSP00000401470:p.Gly402fs		Somatic				RANGAP1_ENST00000407260.4_Frame_Shift_Del_p.G347fs|RANGAP1_ENST00000356244.3_Frame_Shift_Del_p.G402fs|RANGAP1_ENST00000405486.1_Frame_Shift_Del_p.G402fs	p.G402fs			WXS	Illumina GAIIx	Phase_I	P46060	RAGP1_HUMAN			10	2675	-			402					Q96JJ2	Frame_Shift_Del	DEL	ENST00000455915.2	37	c.1206delG	CCDS14012.1																																																																																				0.547	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		278	315						278	315	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C	rs192926292		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2196)cgccccfs	p.RP731fs	MEI1_ENST00000540833.1_Frame_Shift_Ins_p.RP471fs|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.RP49fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.RP99fs|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2191-2193)cccfs		meiosis inhibitor 1																																				SO:0001589	frameshift_variant	150365						binding	g.chr22:42159249_42159250insC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2198dupC	22.37:g.42159255_42159255dupC	ENSP00000384115:p.Arg731fs		Somatic	OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs	p.P731fs	NM_152513.3	NP_689726.3	WXS	Illumina GAIIx	Phase_I	Q5TIA1	MEI1_HUMAN			19	2232_2233	+			731						Frame_Shift_Ins	INS	ENST00000401548.3	37	c.2192_2193insC	CCDS46718.1																																																																																				0.535	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		15	553						15	553	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42266911	42266914	+	Frame_Shift_Del	DEL	ATCA	ATCA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42266911_42266914delATCA	ENST00000361204.4	+	4	905_908	c.739_742delATCA	c.(739-744)atcatcfs	p.II247fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	247	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCAGCCTCAGATCATCAAGACAGA	0.495																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(739-744)tcfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42266911_42266914delATCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.739_742delATCA	22.37:g.42266911_42266914delATCA	ENSP00000354476:p.Ile247fs		Somatic					p.II247fs	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			4	905_908	+			247			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Del	DEL	ENST00000361204.4	37	c.739_742delATCA	CCDS14023.1																																																																																				0.495	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		19	1058						19	1058	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1294-1296)cccfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271636_42271637insC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs		Somatic					p.P432fs	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			7	1460_1461	+			432			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	c.1294_1295insC	CCDS14023.1																																																																																				0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		9	430						9	430	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42564715	42564716	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42564715_42564716insG	ENST00000359486.3	-	4	5962_5963	c.5826_5827insC	c.(5824-5829)cccttgfs	p.PL1942fs	TCF20_ENST00000404876.1_Intron|TCF20_ENST00000335626.4_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1942					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTGTTCTGCAAGGGGGGGAGAG	0.619											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5824-5829)cctgcafs		transcription factor 20 (AR1)			,	8,4256		0,8,2124					,	3.7	1.0			35	12,8242		0,12,4115	no	intron,frameshift	TCF20	NM_181492.1,NM_005650.1	,	0,20,6239	A1A1,A1R,RR		0.1454,0.1876,0.1598	,	,		20,12498				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42564715_42564716insG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5827dupC	22.37:g.42564722_42564722dupG	ENSP00000352463:p.Pro1942fs		Somatic	OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	TCF20_ENST00000335626.4_Intron|TCF20_ENST00000404876.1_Intron	p.A1943fs	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			4	5962_5963	-			1943					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.5826_5827insC	CCDS14033.1																																																																																				0.619	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		19	232						19	232	---	---	---	---
PNPLA5	150379	broad.mit.edu	37	22	44285693	44285694	+	Frame_Shift_Ins	INS	-	-	G	rs140099101	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:44285693_44285694insG	ENST00000597664.1	-	3	606_607	c.477_478insC	c.(475-480)cccgagfs	p.E160fs	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Frame_Shift_Ins_p.E160fs			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	160	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.E160fs*47(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTCTGAACTCGGGGGGGATCA	0.574																																						ENST00000216177.4																			1	Insertion - Frameshift(1)	p.E160fs*47(1)	ovary(1)	endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16						c.(475-480)ccagttfs		patatin-like phospholipase domain containing 5																																				SO:0001589	frameshift_variant	150379				lipid catabolic process		hydrolase activity	g.chr22:44285693_44285694insG	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.478dupC	22.37:g.44285700_44285700dupG	ENSP00000471069:p.Glu160fs		Somatic				PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000597664.1_Frame_Shift_Ins_p.V160fs|PNPLA5_ENST00000381198.2_Intron	p.V160fs	NM_138814.3	NP_620169.1	WXS	Illumina GAIIx	Phase_I	Q7Z6Z6	PLPL5_HUMAN			3	609_610	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	160			Patatin.		B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Ins	INS	ENST00000597664.1	37	c.477_478insC																																																																																					0.574	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		9	72						9	72	---	---	---	---
ALG12	79087	broad.mit.edu	37	22	50297545	50297546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:50297545_50297546insG	ENST00000330817.6	-	10	1680_1681	c.1407_1408insC	c.(1405-1410)cccttcfs	p.F470fs	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	470					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)	p.F470fs*>20(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGGACGTTGAAGGGGGGCAGTT	0.673																																						ENST00000330817.5																			1	Insertion - Frameshift(1)	p.F470fs*>20(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1405-1410)cctcaafs		ALG12, alpha-1,6-mannosyltransferase																																				SO:0001589	frameshift_variant	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297545_50297546insG	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1408dupC	22.37:g.50297551_50297551dupG	ENSP00000333813:p.Phe470fs		Somatic					p.Q470fs	NM_024105.3	NP_077010.1	WXS	Illumina GAIIx	Phase_I	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1680_1681	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	470					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Frame_Shift_Ins	INS	ENST00000330817.6	37	c.1407_1408insC	CCDS14081.1																																																																																				0.673	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		9	763						9	763	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50553619	50553620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:50553619_50553620insG	ENST00000262794.5	+	8	1286_1287	c.1203_1204insG	c.(1204-1206)gggfs	p.G402fs	MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.G402fs|MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.G382fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.G402fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	402					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.46																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1201-1206)ccggggfs		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)																																				SO:0001589	frameshift_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50553619_50553620insG	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1209dupG	22.37:g.50553625_50553625dupG	ENSP00000262794:p.Gly402fs		Somatic				MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.PG401fs|MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.PG401fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.PG381fs	p.PG401fs	NM_018995.2	NP_061868.1	WXS	Illumina GAIIx	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	8	1286_1287	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	401					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Frame_Shift_Ins	INS	ENST00000262794.5	37	c.1203_1204insG	CCDS14084.1																																																																																				0.460	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		8	370						8	370	---	---	---	---
PPP6R2	9701	broad.mit.edu	37	22	50845255	50845256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:50845255_50845256insT	ENST00000216061.5	+	5	735_736	c.365_366insT	c.(364-369)agttttfs	p.SF122fs	PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.SF122fs|PPP6R2_ENST00000359139.3_Frame_Shift_Ins_p.SF122fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.SF122fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	122						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTGCTCGCCAGTTTTTTCAGCA	0.559																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(364-366)attfs		protein phosphatase 6, regulatory subunit 2																																				SO:0001589	frameshift_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50845255_50845256insT	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.371dupT	22.37:g.50845261_50845261dupT	ENSP00000216061:p.Ser122fs		Somatic				PPP6R2_ENST00000216061.5_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.I122fs	p.I122fs	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	WXS	Illumina GAIIx	Phase_I	O75170	PP6R2_HUMAN			4	759_760	+			122					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Ins	INS	ENST00000216061.5	37	c.365_366insT																																																																																					0.559	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		9	2240						9	2240	---	---	---	---
CLCN4	1183	broad.mit.edu	37	X	10188762	10188763	+	Frame_Shift_Ins	INS	-	-	C	rs142375213		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:10188762_10188763insC	ENST00000380833.4	+	12	2428_2429	c.2037_2038insC	c.(2038-2040)cccfs	p.P680fs	CLCN4_ENST00000421085.2_Frame_Shift_Ins_p.P586fs|CLCN4_ENST00000380829.1_Frame_Shift_Ins_p.P649fs	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	680					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGCT	0.564																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2035-2040)gaccccfs		chloride channel, voltage-sensitive 4																																				SO:0001589	frameshift_variant	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188762_10188763insC	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2043dupC	X.37:g.10188768_10188768dupC	ENSP00000370213:p.Pro680fs		Somatic				CLCN4_ENST00000380829.1_Frame_Shift_Ins_p.DP648fs|CLCN4_ENST00000421085.2_Frame_Shift_Ins_p.DP585fs	p.DP679fs	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	WXS	Illumina GAIIx	Phase_I	P51793	CLCN4_HUMAN			12	2428_2429	+			679					A1L3U1|B7Z5Z4|Q9UBU1	Frame_Shift_Ins	INS	ENST00000380833.4	37	c.2037_2038insC	CCDS14137.1																																																																																				0.564	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			7	302						7	302	---	---	---	---
MID1	4281	broad.mit.edu	37	X	10417613	10417614	+	Frame_Shift_Ins	INS	-	-	G	rs398123342|rs1802191		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:10417613_10417614insG	ENST00000317552.4	-	10	2198_2199	c.1798_1799insC	c.(1798-1800)cacfs	p.H600fs	MID1_ENST00000380780.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380779.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380785.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380787.1_Frame_Shift_Ins_p.H600fs|MID1_ENST00000380782.2_3'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	600	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCGGAGGTGGGGGGCAGGC	0.54																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26	GRCh37	CD071368|CI067580	MID1	D|I	rs1802191	c.(1798-1800)cctfs		midline 1 (Opitz/BBB syndrome)																																				SO:0001589	frameshift_variant	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417613_10417614insG	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1799dupC	X.37:g.10417619_10417619dupG	ENSP00000312678:p.His600fs		Somatic				MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000479925.1_5'UTR	p.P600fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	WXS	Illumina GAIIx	Phase_I	O15344	TRI18_HUMAN			10	2198_2199	-			600			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Frame_Shift_Ins	INS	ENST00000317552.4	37	c.1798_1799insC	CCDS14138.1																																																																																				0.540	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			8	421						8	421	---	---	---	---
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:11316741_11316742insC	ENST00000380714.3	+	5	286_287	c.218_219insC	c.(217-222)caccccfs	p.HP73fs	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.HP57fs|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380712.3_Frame_Shift_Ins_p.HP87fs	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	73					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCCAACAGCACCCCCCGACTC	0.594																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(259-261)cccfs		amelogenin, X-linked																																				SO:0001589	frameshift_variant	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316741_11316742insC		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.224dupC	X.37:g.11316747_11316747dupC	ENSP00000370090:p.His73fs		Somatic				ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|ARHGAP6_ENST00000413512.3_Intron	p.P87fs	NM_182680.1	NP_872621.1	WXS	Illumina GAIIx	Phase_I	Q99217	AMELX_HUMAN			6	328_329	+			73					Q96NW6|Q9UCA7	Frame_Shift_Ins	INS	ENST00000380714.3	37	c.260_261insC	CCDS14144.1																																																																																				0.594	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		7	204						7	204	---	---	---	---
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)tggfs	p.W133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.W133fs	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	87						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(397-399)gggfs		carbonic anhydrase VB, mitochondrial																																				SO:0001589	frameshift_variant	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15790675_15790676insG	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.403dupG	X.37:g.15790681_15790681dupG	ENSP00000314099:p.Trp133fs		Somatic				CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	p.G133fs	NM_007220.3	NP_009151.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D0	CAH5B_HUMAN			4	533_534	+	Hepatocellular(33;0.183)		133					A6NEZ4	Frame_Shift_Ins	INS	ENST00000318636.3	37	c.397_398insG	CCDS14171.1																																																																																				0.495	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		8	388						8	388	---	---	---	---
MAP7D2	256714	broad.mit.edu	37	X	20062545	20062545	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:20062545delA	ENST00000379651.3	-	6	711	c.693delT	c.(691-693)tctfs	p.S231fs	MAP7D2_ENST00000443379.3_Frame_Shift_Del_p.S186fs|MAP7D2_ENST00000379643.5_Frame_Shift_Del_p.S272fs|MAP7D2_ENST00000543767.1_Frame_Shift_Del_p.S116fs|MAP7D2_ENST00000452324.3_Frame_Shift_Del_p.S179fs	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	231					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATGTAGACGTAGATGTAGCTT	0.478																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(691-693)tcfs		MAP7 domain containing 2							200.0	177.0	185.0					X																	20062545		2203	4300	6503	SO:0001589	frameshift_variant	256714							g.chrX:20062545delA	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.693delT	X.37:g.20062545delA	ENSP00000368972:p.Ser231fs		Somatic				MAP7D2_ENST00000543767.1_Frame_Shift_Del_p.S116fs|MAP7D2_ENST00000379643.5_Frame_Shift_Del_p.S272fs|MAP7D2_ENST00000452324.3_Frame_Shift_Del_p.S179fs|MAP7D2_ENST00000443379.3_Frame_Shift_Del_p.S186fs	p.S231fs	NM_152780.3	NP_689993.2	WXS	Illumina GAIIx	Phase_I	Q96T17	MA7D2_HUMAN			6	711	-			231					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Frame_Shift_Del	DEL	ENST00000379651.3	37	c.693delT	CCDS14195.1																																																																																				0.478	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		33	677						33	677	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-396)ccccccfs		proline rich Gla (G-carboxyglutamic acid) 1																																				SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312610_37312611insC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs		Somatic				PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs	p.PP131fs	NM_001173489.1	NP_001166960.1	WXS	Illumina GAIIx	Phase_I	O14668	TMG1_HUMAN			5	665_666	+			131			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Ins	INS	ENST00000542554.1	37	c.393_394insC	CCDS14239.1																																																																																				0.485	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		36	209						36	209	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:40982956_40982957insC	ENST00000324545.8	+	2	708_709	c.75_76insC	c.(76-78)cccfs	p.P26fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P26fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	26					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.54																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(73-78)caccccfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40982956_40982957insC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.82dupC	X.37:g.40982963_40982963dupC	ENSP00000316357:p.Pro26fs		Somatic				USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			2	708_709	+			25	Q -> L (in Ref. 1; CAA66942).				O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.75_76insC	CCDS43930.1																																																																																				0.540	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		10	215						10	215	---	---	---	---
RGN	9104	broad.mit.edu	37	X	46940650	46940651	+	Frame_Shift_Ins	INS	-	-	A	rs373577391		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:46940650_46940651insA	ENST00000352078.4	+	2	452_453	c.107_108insA	c.(106-111)gcaaaafs	p.AK36fs	RGN_ENST00000469346.1_3'UTR|RGN_ENST00000397180.1_Frame_Shift_Ins_p.AK36fs|RGN_ENST00000457380.1_Frame_Shift_Ins_p.AK36fs|RGN_ENST00000336169.3_Frame_Shift_Ins_p.AK36fs	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	36					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GACATTCCTGCAAAAAAGGTTT	0.49																																						ENST00000397180.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(106-108)gaafs		regucalcin																																				SO:0001589	frameshift_variant	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46940650_46940651insA	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.113dupA	X.37:g.46940656_46940656dupA	ENSP00000253303:p.Ala36fs		Somatic				RGN_ENST00000352078.4_Frame_Shift_Ins_p.E36fs|RGN_ENST00000469346.1_3'UTR|RGN_ENST00000457380.1_Frame_Shift_Ins_p.E36fs|RGN_ENST00000336169.3_Frame_Shift_Ins_p.E36fs	p.E36fs	NM_152869.2	NP_690608.1	WXS	Illumina GAIIx	Phase_I	Q15493	RGN_HUMAN			3	1076_1077	+			36					A4FTW1|A8K271|Q53FC9|Q5JRR5	Frame_Shift_Ins	INS	ENST00000352078.4	37	c.107_108insA	CCDS14272.1																																																																																				0.490	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		7	708						7	708	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47092337	47092338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:47092337_47092338insG	ENST00000218348.3	+	1	24_25	c.24_25insG	c.(25-27)gggfs	p.G9fs	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	9					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CGCGACTGTTTGGGGGGCTCTG	0.569																																						ENST00000218348.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(22-27)ttggggfs		ubiquitin specific peptidase 11																																				SO:0001589	frameshift_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47092337_47092338insG	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.30dupG	X.37:g.47092343_47092343dupG	ENSP00000218348:p.Gly9fs		Somatic				USP11_ENST00000377107.2_5'UTR	p.LG8fs	NM_004651.3	NP_004642.2	WXS	Illumina GAIIx	Phase_I	P51784	UBP11_HUMAN			1	24_25	+			8					B2RTX1|Q8IUG6|Q9BWE1	Frame_Shift_Ins	INS	ENST00000218348.3	37	c.24_25insG	CCDS14277.1																																																																																				0.569	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		7	147						7	147	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		23	2125						23	2125	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs		Somatic				SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		8	1074						8	1074	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs		Somatic				TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	WXS	Illumina GAIIx	Phase_I	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		45	468						45	468	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67273588	67273589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:67273588_67273589insG	ENST00000355520.5	-	22	2863_2864	c.2222_2223insC	c.(2221-2223)ccafs	p.P741fs	OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.P633fs	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	741	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGGGCCTCACTGGGGGGCGGAT	0.55																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(2221-2223)cgtfs		oligophrenin 1																																				SO:0001589	frameshift_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67273588_67273589insG	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2223dupC	X.37:g.67273594_67273594dupG	ENSP00000347710:p.Pro741fs		Somatic				OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.R633fs	p.R741fs	NM_002547.2	NP_002538.1	WXS	Illumina GAIIx	Phase_I	O60890	OPHN1_HUMAN			22	2863_2864	-			741			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Frame_Shift_Ins	INS	ENST00000355520.5	37	c.2222_2223insC	CCDS14388.1																																																																																				0.550	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		10	323						10	323	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67283963	67283964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:67283963_67283964insG	ENST00000355520.5	-	21	2531_2532	c.1890_1891insC	c.(1888-1893)cccaagfs	p.K631fs	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	631	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGTGGTGGCTTGGGGGGTTCTA	0.475																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1888-1893)ccagccfs		oligophrenin 1																																				SO:0001589	frameshift_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283963_67283964insG	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1891dupC	X.37:g.67283969_67283969dupG	ENSP00000347710:p.Lys631fs		Somatic				OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	p.A631fs	NM_002547.2	NP_002538.1	WXS	Illumina GAIIx	Phase_I	O60890	OPHN1_HUMAN			21	2531_2532	-			631			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Frame_Shift_Ins	INS	ENST00000355520.5	37	c.1890_1891insC	CCDS14388.1																																																																																				0.475	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		22	2207						22	2207	---	---	---	---
FOXO4	4303	broad.mit.edu	37	X	70321276	70321277	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:70321276_70321277insG	ENST00000374259.3	+	2	1528_1529	c.1196_1197insG	c.(1195-1200)ctggggfs	p.LG399fs	FOXO4_ENST00000341558.3_Frame_Shift_Ins_p.LG344fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	399					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTTCTGTTGCTGGGGGGGCTTC	0.634																																						ENST00000374259.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18						c.(1195-1197)cggfs		forkhead box O4																																				SO:0001589	frameshift_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70321276_70321277insG		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1203dupG	X.37:g.70321283_70321283dupG	ENSP00000363377:p.Leu399fs		Somatic				FOXO4_ENST00000341558.3_Frame_Shift_Ins_p.R344fs	p.R399fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	WXS	Illumina GAIIx	Phase_I	P98177	FOXO4_HUMAN			2	1528_1529	+	Renal(35;0.156)		399					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Frame_Shift_Ins	INS	ENST00000374259.3	37	c.1196_1197insG	CCDS43969.1																																																																																				0.634	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		7	63						7	63	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs|CXorf65_ENST00000374251.5_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs		Somatic				IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs	p.L361fs	NM_000206.2	NP_000197.1	WXS	Illumina GAIIx	Phase_I	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			10	96						10	96	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551516	99551517	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:99551516_99551517insG	ENST00000373034.4	-	6	4880_4881	c.3205_3206insC	c.(3205-3207)ctcfs	p.L1069fs	PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.L1022fs|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.L1021fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1069					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTTGAGGTGGAGGGGGGAGGTG	0.584																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(3205-3207)ccafs		protocadherin 19																																				SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551516_99551517insG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3206dupC	X.37:g.99551522_99551522dupG	ENSP00000362125:p.Leu1069fs		Somatic				PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.P1021fs|PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.P1022fs	p.P1069fs	NM_001184880.1	NP_001171809.1	WXS	Illumina GAIIx	Phase_I	Q8TAB3	PCD19_HUMAN			6	4880_4881	-			1069					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Ins	INS	ENST00000373034.4	37	c.3205_3206insC	CCDS55462.1																																																																																				0.584	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		7	163						7	163	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100117691	100117692	+	Frame_Shift_Ins	INS	-	-	C	rs145552525	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:100117691_100117692insC	ENST00000372966.3	-	5	660_661	c.455_456insG	c.(454-456)ggtfs	p.G152fs	NOX1_ENST00000372960.4_Frame_Shift_Ins_p.G115fs|NOX1_ENST00000217885.5_Frame_Shift_Ins_p.G152fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.G152fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	152	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTAGCCAAGAACCCCCCTTTTT	0.5																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(454-456)gtcfs		NADPH oxidase 1																																				SO:0001589	frameshift_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117691_100117692insC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.456dupG	X.37:g.100117697_100117697dupC	ENSP00000362057:p.Gly152fs		Somatic				NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs|NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs	p.V152fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	WXS	Illumina GAIIx	Phase_I	Q9Y5S8	NOX1_HUMAN			5	660_661	-			152			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Frame_Shift_Ins	INS	ENST00000372966.3	37	c.455_456insG	CCDS14474.1																																																																																				0.500	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		11	1164						11	1164	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619325	108619326	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:108619325_108619326insG	ENST00000218006.2	-	18	3512_3513	c.3221_3222insC	c.(3220-3222)ccafs	p.P1074fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1074					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.P1074Q(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTCCACTGGTGGGGGCACAGG	0.436																																						ENST00000218006.2																			1	Substitution - Missense(1)	p.P1074Q(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3220-3222)cccfs		guanylate cyclase 2F, retinal																																				SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619325_108619326insG	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3222dupC	X.37:g.108619330_108619330dupG	ENSP00000218006:p.Pro1074fs		Somatic					p.P1074fs	NM_001522.2	NP_001513.2	WXS	Illumina GAIIx	Phase_I	P51841	GUC2F_HUMAN			18	3512_3513	-			1074					Q9UJF1	Frame_Shift_Ins	INS	ENST00000218006.2	37	c.3221_3222insC	CCDS14545.1																																																																																				0.436	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		8	830						8	830	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs		Somatic					p.P310fs	NM_173798.2	NP_776159.1	WXS	Illumina GAIIx	Phase_I	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		11	1238						11	1238	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128890517	128890518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:128890517_128890518insG	ENST00000371106.3	+	14	1545_1546	c.1353_1354insG	c.(1354-1356)gggfs	p.G452fs		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	452						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1351-1356)tcggggfs		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound																																				SO:0001589	frameshift_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128890517_128890518insG	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1359dupG	X.37:g.128890523_128890523dupG	ENSP00000360147:p.Gly452fs		Somatic					p.SG451fs	NM_003399.5	NP_003390.4	WXS	Illumina GAIIx	Phase_I	O43895	XPP2_HUMAN			14	1545_1546	+			451					A0AV16|O75994	Frame_Shift_Ins	INS	ENST00000371106.3	37	c.1353_1354insG	CCDS14613.1																																																																																				0.579	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		12	293						12	293	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:129146962_129146963insG	ENST00000218147.7	+	4	411_412	c.214_215insG	c.(214-216)cggfs	p.R72fs	BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.R72fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.R72fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.R72fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(214-216)gggfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129146962_129146963insG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.220dupG	X.37:g.129146968_129146968dupG	ENSP00000218147:p.Arg72fs		Somatic				BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs	p.G72fs	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	258_259	+			72					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	37	c.214_215insG	CCDS14616.1																																																																																				0.569	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		10	436						10	436	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130409137	130409138	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:130409137_130409138insC	ENST00000361420.3	-	17	3386_3387	c.3307_3308insG	c.(3307-3309)gctfs	p.A1103fs	IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.A1108fs|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.A1094fs|IGSF1_ENST00000370904.1_Frame_Shift_Ins_p.A1094fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1103	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGGCTCCTGAGCCCCCTCCTTC	0.53																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3280-3282)tcafs		immunoglobulin superfamily, member 1																																				SO:0001589	frameshift_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409137_130409138insC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3308dupG	X.37:g.130409142_130409142dupC	ENSP00000355010:p.Ala1103fs		Somatic				IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.S1108fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.S1094fs|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.S1103fs	p.S1094fs			WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			23	4190_4191	-			1103			Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Frame_Shift_Ins	INS	ENST00000361420.3	37	c.3280_3281insG	CCDS14629.1																																																																																				0.530	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			7	948						7	948	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130411113	130411114	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:130411113_130411114insG	ENST00000361420.3	-	14	2486_2487	c.2407_2408insC	c.(2407-2409)cacfs	p.H803fs	IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.H808fs|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.H794fs|IGSF1_ENST00000370904.1_Frame_Shift_Ins_p.H794fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	803	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATATGCTGGTGGGGGGTGGAG	0.51																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2380-2382)ccafs		immunoglobulin superfamily, member 1																																				SO:0001589	frameshift_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411113_130411114insG	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2408dupC	X.37:g.130411119_130411119dupG	ENSP00000355010:p.His803fs		Somatic				IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.P808fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.P794fs|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.P803fs|IGSF1_ENST00000467244.1_5'UTR	p.P794fs			WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			20	3290_3291	-			803			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Frame_Shift_Ins	INS	ENST00000361420.3	37	c.2380_2381insC	CCDS14629.1																																																																																				0.510	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			11	348						11	348	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)caafs	p.Q119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.53																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(355-357)aaafs		placenta-specific 1																																				SO:0001589	frameshift_variant	10761				placenta development	extracellular region		g.chrX:133700357_133700358insG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.356dupC	X.37:g.133700363_133700363dupG	ENSP00000352173:p.Gln119fs		Somatic				PLAC1_ENST00000476971.1_5'UTR	p.K119fs	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	640_641	-	Acute lymphoblastic leukemia(192;0.000127)		119						Frame_Shift_Ins	INS	ENST00000359237.4	37	c.355_356insC	CCDS14642.1																																																																																				0.530	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		16	278						16	278	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)ccafs	p.P63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.51																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(187-189)caafs		placenta-specific 1																																				SO:0001589	frameshift_variant	10761				placenta development	extracellular region		g.chrX:133700524_133700525insG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.189dupC	X.37:g.133700530_133700530dupG	ENSP00000352173:p.Pro63fs		Somatic				PLAC1_ENST00000476971.1_5'UTR	p.Q63fs	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	473_474	-	Acute lymphoblastic leukemia(192;0.000127)		63						Frame_Shift_Ins	INS	ENST00000359237.4	37	c.188_189insC	CCDS14642.1																																																																																				0.510	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		15	432						15	432	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144904117	144904118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:144904117_144904118insC	ENST00000370490.1	+	1	4429_4430	c.174_175insC	c.(175-177)cccfs	p.P59fs	SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.P59fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	59					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCTCCAGCCCCCCCAGTA	0.431																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(172-177)caccccfs		SLIT and NTRK-like family, member 2																																				SO:0001589	frameshift_variant	84631					integral to membrane		g.chrX:144904117_144904118insC	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.181dupC	X.37:g.144904124_144904124dupC	ENSP00000359521:p.Pro59fs		Somatic				SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.HP58fs	p.HP58fs			WXS	Illumina GAIIx	Phase_I	Q9H156	SLIK2_HUMAN			1	4429_4430	+	Acute lymphoblastic leukemia(192;6.56e-05)		58					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Ins	INS	ENST00000370490.1	37	c.174_175insC	CCDS14680.1																																																																																				0.431	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		7	89						7	89	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147024810	147024811	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:147024810_147024811insG	ENST00000370475.4	+	14	1563_1564	c.1435_1436insG	c.(1435-1437)aggfs	p.R479fs	FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.R458fs|FMR1_ENST00000218200.8_Frame_Shift_Ins_p.R458fs|FMR1_ENST00000440235.2_Frame_Shift_Ins_p.R126fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.R479fs|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000439526.2_Frame_Shift_Ins_p.R456fs	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	479	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTACAGAAATAGGGGGCACGGC	0.426									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1372-1374)gggfs		fragile X mental retardation 1																																				SO:0001589	frameshift_variant	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147024810_147024811insG	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1440dupG	X.37:g.147024815_147024815dupG	ENSP00000359506:p.Arg479fs		Somatic				FMR1_ENST00000439526.2_Frame_Shift_Ins_p.G456fs|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000440235.2_Frame_Shift_Ins_p.G126fs|FMR1_ENST00000370475.4_Frame_Shift_Ins_p.G479fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.G479fs|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.G458fs	p.G458fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	WXS	Illumina GAIIx	Phase_I	Q06787	FMR1_HUMAN			13	1601_1602	+	Acute lymphoblastic leukemia(192;6.56e-05)		479			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Frame_Shift_Ins	INS	ENST00000370475.4	37	c.1372_1373insG	CCDS14682.1																																																																																				0.426	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		7	528						7	528	---	---	---	---
PNCK	139728	broad.mit.edu	37	X	152936626	152936627	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:152936626_152936627insG	ENST00000370150.1	-	8	811_812	c.633_634insC	c.(631-636)cccttcfs	p.F212fs	PNCK_ENST00000340888.3_Frame_Shift_Ins_p.F212fs|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_Frame_Shift_Ins_p.F229fs|PNCK_ENST00000447676.2_Frame_Shift_Ins_p.F295fs|PNCK_ENST00000370142.1_Frame_Shift_Ins_p.F235fs|PNCK_ENST00000393831.2_Frame_Shift_Ins_p.F235fs			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCGTAGAAGGGGGGGTACC	0.589																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(700-705)cctctafs		pregnancy up-regulated nonubiquitous CaM kinase																																				SO:0001589	frameshift_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936626_152936627insG	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.634dupC	X.37:g.152936633_152936633dupG	ENSP00000359169:p.Phe212fs		Somatic				PNCK_ENST00000447676.2_Frame_Shift_Ins_p.L295fs|PNCK_ENST00000340888.3_Frame_Shift_Ins_p.L212fs|PNCK_ENST00000370142.1_Frame_Shift_Ins_p.L235fs|PNCK_ENST00000370145.4_Frame_Shift_Ins_p.L229fs|PNCK_ENST00000370150.1_Frame_Shift_Ins_p.L212fs	p.L235fs	NM_001039582.3	NP_001034671.3	WXS	Illumina GAIIx	Phase_I	Q6P2M8	KCC1B_HUMAN			8	1136_1137	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		212			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Frame_Shift_Ins	INS	ENST00000370150.1	37	c.702_703insC																																																																																					0.589	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		10	130						10	130	---	---	---	---
ATP6AP1	537	broad.mit.edu	37	X	153662714	153662720	+	Frame_Shift_Del	DEL	GGGAGGA	GGGAGGA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:153662714_153662720delGGGAGGA	ENST00000369762.2	+	7	906_912	c.845_851delGGGAGGA	c.(844-852)tgggaggacfs	p.WED282fs	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	282					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					AAGGACCAGTGGGAGGACCTGACTCCC	0.57																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(844-852)tcfs		ATPase, H+ transporting, lysosomal accessory protein 1																																				SO:0001589	frameshift_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153662714_153662720delGGGAGGA	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.845_851delGGGAGGA	X.37:g.153662714_153662720delGGGAGGA	ENSP00000358777:p.Trp282fs		Somatic					p.WED282fs	NM_001183.4	NP_001174.2	WXS	Illumina GAIIx	Phase_I	Q15904	VAS1_HUMAN			7	906_912	+	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)		282					A6ZKI4|Q8NBT4|Q9H0C7	Frame_Shift_Del	DEL	ENST00000369762.2	37	c.845_851delGGGAGGA	CCDS35451.1																																																																																				0.570	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		11	175						11	175	---	---	---	---
SLC10A3	8273	broad.mit.edu	37	X	153716952	153716952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:153716952delG	ENST00000393587.4	-	3	591	c.328delC	c.(328-330)ctgfs	p.L110fs	SLC10A3_ENST00000393586.1_Frame_Shift_Del_p.L165fs|SLC10A3_ENST00000369649.4_Frame_Shift_Del_p.L110fs|SLC10A3_ENST00000263512.4_Frame_Shift_Del_p.L110fs|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	110					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					TCTGTGTCCAGGGAGGTGACC	0.622																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(328-330)tgfs		solute carrier family 10, member 3							107.0	91.0	97.0					X																	153716952		2203	4300	6503	SO:0001589	frameshift_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716952delG	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.328delC	X.37:g.153716952delG	ENSP00000377212:p.Leu110fs		Somatic				SLC10A3_ENST00000393586.1_Frame_Shift_Del_p.L165fs|SLC10A3_ENST00000393587.4_Frame_Shift_Del_p.L110fs|SLC10A3_ENST00000369649.4_Frame_Shift_Del_p.L110fs	p.L110fs	NM_019848.3	NP_062822.1	WXS	Illumina GAIIx	Phase_I	P09131	P3_HUMAN			2	826	-	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)		110					Q5HY79|Q9BSL2	Frame_Shift_Del	DEL	ENST00000393587.4	37	c.328delC	CCDS14755.1																																																																																				0.622	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		14	278						14	278	---	---	---	---
