#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
ANAPC4	29945	broad.mit.edu	37	4	25384881	25384881	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:25384881A>T	ENST00000315368.3	+	4	377		c.e4-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTCTTGTTTTAGTTTTGGCCT	0.343																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.e4-1		anaphase promoting complex subunit 4							127.0	117.0	121.0					4																	25384881		2203	4299	6502	SO:0001630	splice_region_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25384881A>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.236-1A>T	4.37:g.25384881A>T			Somatic				ANAPC4_ENST00000510092.1_Splice_Site		NM_013367.2	NP_037499.2	WXS	Illumina GAIIx	Phase_I	Q9UJX5	APC4_HUMAN			4	377	+		Breast(46;0.0503)						A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	ENST00000315368.3	37		CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.237719	0.79800	.	.	ENSG00000053900	ENST00000315368;ENST00000510092;ENST00000505991	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9279	0.79635	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	24993979	1.000000	0.71417	0.984000	0.44739	0.949000	0.60115	8.799000	0.91895	2.165000	0.68154	0.482000	0.46254	.		0.343	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	Intron	6	27	0	0	0	1	0	6	27				
SLC5A10	125206	broad.mit.edu	37	17	18918498	18918498	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:18918498C>T	ENST00000395645.3	+	11	1245	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395642.1_Silent_p.L342L|SLC5A10_ENST00000317977.6_Silent_p.L342L	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	409					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGCGGGAGCTCCTGCTGGTGG	0.657																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1024-1026)ctC>ctT		solute carrier family 5 (sodium/sugar cotransporter), member 10							18.0	17.0	17.0					17																	18918498		2201	4295	6496	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18918498C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1227C>T	17.37:g.18918498C>T			Somatic				SLC5A10_ENST00000395642.1_Silent_p.L342L|SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395645.3_Silent_p.L409L	p.L342L			WXS	Illumina GAIIx	Phase_I	A0PJK1	SC5AA_HUMAN			10	1597	+			409					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.1026C>T	CCDS42275.1																																																																																				0.657	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		3	51	0	0	0	1	0	3	51				
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					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						TCCTTCTGGTACTTCTGTTTA	0.547																																						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.(1036-1038)Tac>Aac		solute carrier family 43, member 3							161.0	158.0	159.0					11																	57182112		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182112A>T	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.1036T>A	11.37:g.57182112A>T	ENSP00000378555:p.Tyr346Asn		Somatic				SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N	p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			11	1340	-			346					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.1036T>A	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276931	0.59758	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);	0.201525	0.44285	D	0.000472	T	0.33352	0.0860	L	0.56769	1.78	0.34914	D	0.74777	B;P;B	0.38745	0.188;0.645;0.075	B;P;B	0.44422	0.166;0.449;0.102	T	0.45366	-0.9266	10	0.28530	T	0.3	-13.7562	8.1888	0.31354	0.8217:0.0:0.0:0.1783	.	359;346;346	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	N	346;346;346;346;359	ENSP00000378555:Y346N;ENSP00000378556:Y346N;ENSP00000337561:Y346N;ENSP00000436254:Y346N;ENSP00000434515:Y359N	ENSP00000337561:Y346N	Y	-	1	0	SLC43A3	56938688	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.933000	0.56545	1.875000	0.54330	0.379000	0.24179	TAC		0.547	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		19	823	0	0	0	1	0	19	823				
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000533515.1_5'Flank|SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e13-2		solute carrier family 43 (amino acid system L transporter), member 1							137.0	127.0	131.0					11																	57256464		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256464T>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1336-2A>T	11.37:g.57256464T>A			Somatic				SLC43A1_ENST00000528450.1_Splice_Site		NM_003627.5	NP_003618.1	WXS	Illumina GAIIx	Phase_I	O75387	LAT3_HUMAN			13	1691	-									Splice_Site	SNP	ENST00000278426.3	37		CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983519	0.35036	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57013040	1.000000	0.71417	0.943000	0.38184	0.132000	0.20833	7.249000	0.78278	1.819000	0.53055	0.528000	0.53228	.		0.532	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	10	257	0	0	0	1	0	10	257				
OMP	4975	broad.mit.edu	37	11	76814108	76814108	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:76814108C>T	ENST00000529803.1	+	1	223	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	75					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGGACAAGCCGGGCAAGGT	0.622																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(223-225)Ccg>Tcg		olfactory marker protein							52.0	63.0	60.0					11																	76814108		2184	4267	6451	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814108C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.223C>T	11.37:g.76814108C>T	ENSP00000436376:p.Pro75Ser		Somatic				CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	p.P75S	NM_006189.1	NP_006180.1	WXS	Illumina GAIIx	Phase_I	P47874	OMP_HUMAN			1	223	+			75					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.223C>T	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	7.358	0.624304	0.14193	.	.	ENSG00000254550	ENST00000529803	T	0.33438	1.41	5.81	2.57	0.30868	.	.	.	.	.	T	0.24470	0.0593	L	0.29908	0.895	0.25467	N	0.987867	B	0.12013	0.005	B	0.14578	0.011	T	0.21075	-1.0256	9	0.49607	T	0.09	.	13.0473	0.58933	0.0:0.5917:0.3382:0.07	.	75	P47874	OMP_HUMAN	S	75	ENSP00000436376:P75S	ENSP00000436376:P75S	P	+	1	0	OMP	76491756	0.731000	0.28111	0.992000	0.48379	0.333000	0.28666	1.528000	0.35985	0.750000	0.32877	0.462000	0.41574	CCG		0.622	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		3	47	0	0	0	1	0	3	47				
PRIM2	5558	broad.mit.edu	37	6	57372286	57372286	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:57372286A>T	ENST00000389488.2	+	8	780		c.e8-1		PRIM2_ENST00000607273.1_Splice_Site			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCCTGCTTTTAGTTAACAGCC	0.428																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.e8-1		primase, DNA, polypeptide 2 (58kDa)							137.0	122.0	127.0					6																	57372286		1921	4139	6060	SO:0001630	splice_region_variant	5558				DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57372286A>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.781-1A>T	6.37:g.57372286A>T			Somatic				PRIM2_ENST00000389488.2_Splice_Site		NM_000947.2	NP_000938.2	WXS	Illumina GAIIx	Phase_I	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	8	780	+								Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	SNP	ENST00000389488.2	37																																																																																						0.428	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	Intron	5	142	0	0	0	1	0	5	142				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T			Somatic					p.R837R	NM_017647.3	NP_060117.3	WXS	Illumina GAIIx	Phase_I	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		25	1217	0	0	0	1	0	25	1217				
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E481D(1)|p.K476Q(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)Aag>Cag		neuroblastoma breakpoint family, member 14		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln		Somatic					p.K476Q			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			12	1442	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		11	1558	0	0	0	1	0	11	1558				
SEC23B	10483	broad.mit.edu	37	20	18534919	18534919	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:18534919C>A	ENST00000336714.3	+	18	2465	c.2033C>A	c.(2032-2034)cCc>cAc	p.P678H	SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	678					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CAGGACATGCCCGAGTATGAA	0.483																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(2032-2034)cCc>cAc		Sec23 homolog B (S. cerevisiae)							146.0	115.0	125.0					20																	18534919		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18534919C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2033C>A	20.37:g.18534919C>A	ENSP00000338844:p.Pro678His		Somatic				SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H	p.P678H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	WXS	Illumina GAIIx	Phase_I	Q15437	SC23B_HUMAN			18	2465	+			678					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.2033C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539003	0.85917	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	4.69	4.69	0.59074	Gelsolin domain (1);	0.102095	0.64402	D	0.000002	D	0.97306	0.9119	M	0.92507	3.315	0.80722	D	1	D;P	0.65815	0.995;0.499	D;P	0.67900	0.954;0.472	D	0.98185	1.0459	10	0.87932	D	0	-19.1694	17.1327	0.86730	0.0:1.0:0.0:0.0	.	660;678	B4DJW8;Q15437	.;SC23B_HUMAN	H	678;678;678;678;157	ENSP00000338844:P678H;ENSP00000262544:P678H;ENSP00000366695:P678H;ENSP00000366685:P678H;ENSP00000409882:P157H	ENSP00000262544:P678H	P	+	2	0	SEC23B	18482919	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	7.609000	0.82925	2.588000	0.87417	0.655000	0.94253	CCC		0.483	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			11	725	1	0	2.27111e-07	1	2.39988e-07	11	725				
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T	rs560662752		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2404-2406)Taa>Aaa		PR domain containing 4							98.0	100.0	99.0					12																	108127989		2203	4300	6503	SO:0001578	stop_lost	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108127989A>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2404T>A	12.37:g.108127989A>T			Somatic					p.*802K	NM_012406.3	NP_036538.3	WXS	Illumina GAIIx	Phase_I	Q9UKN5	PRDM4_HUMAN			12	2863	-			0					Q9UFA6	Nonstop_Mutation	SNP	ENST00000228437.5	37	c.2404T>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072663	0.93950	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3011	0.66352	1.0:0.0:0.0:0.0	.	.	.	.	K	802	.	.	X	-	1	0	PRDM4	106652119	0.488000	0.25996	0.470000	0.27216	0.939000	0.58152	4.818000	0.62657	2.313000	0.78055	0.454000	0.30748	TAA		0.358	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		5	207	0	0	0	1	0	5	207				
SGMS1	259230	broad.mit.edu	37	10	52067829	52067829	+	Silent	SNP	C	C	T	rs369757236	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:52067829C>T	ENST00000361781.2	-	10	1934	c.975G>A	c.(973-975)gcG>gcA	p.A325A	SGMS1_ENST00000429490.1_Silent_p.A156A	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	331					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTGGTCATGCGCTAAGAGAA	0.507													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18793	0.0		0.0	False		,,,				2504	0.001					ENST00000361781.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(973-975)gcG>gcA		sphingomyelin synthase 1		C		1,4405	2.1+/-5.4	0,1,2202	137.0	127.0	131.0		975	-0.1	1.0	10		131	0,8600		0,0,4300	no	coding-synonymous	SGMS1	NM_147156.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		325/414	52067829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52067829C>T	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.975G>A	10.37:g.52067829C>T			Somatic				SGMS1_ENST00000429490.1_Silent_p.A156A	p.A325A	NM_147156.3	NP_671512.1	WXS	Illumina GAIIx	Phase_I	Q86VZ5	SMS1_HUMAN			10	1934	-			331					Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	c.975G>A	CCDS7240.1																																																																																				0.507	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		5	321	0	0	0	1	0	5	321				
TRPC4	7223	broad.mit.edu	37	13	38211143	38211143	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:38211143A>T	ENST00000379705.3	-	11	3688	c.2831T>A	c.(2830-2832)aTa>aAa	p.I944K	TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	944	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCCTTTGGTATTATAGGAAC	0.453																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2830-2832)aTa>aAa		transient receptor potential cation channel, subfamily C, member 4							164.0	143.0	150.0					13																	38211143		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211143A>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2831T>A	13.37:g.38211143A>T	ENSP00000369027:p.Ile944Lys		Somatic				TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K	p.I944K			WXS	Illumina GAIIx	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3688	-			944			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2831T>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.498997	0.26861	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.72942	-0.18;-0.18;0.01;0.01;0.1;-0.46;-0.7;0.1	5.72	4.54	0.55810	.	0.326340	0.30159	N	0.010261	T	0.64182	0.2575	N	0.08118	0	0.80722	D	1	B;B;P;B;B;B	0.48694	0.027;0.065;0.914;0.144;0.185;0.089	B;B;P;B;B;B	0.61328	0.01;0.015;0.887;0.06;0.034;0.017	T	0.67154	-0.5742	10	0.56958	D	0.05	-25.2989	7.8502	0.29451	0.8575:0.0:0.1425:0.0	.	803;795;949;771;860;944	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	944;949;771;771;803;860;795;803	ENSP00000369027:I944K;ENSP00000369003:I949K;ENSP00000342580:I771K;ENSP00000369001:I771K;ENSP00000348025:I803K;ENSP00000351264:I860K;ENSP00000368995:I795K;ENSP00000414316:I803K	ENSP00000342580:I771K	I	-	2	0	TRPC4	37109143	0.961000	0.32948	0.928000	0.36995	0.451000	0.32288	3.145000	0.50623	2.311000	0.77944	0.533000	0.62120	ATA		0.453	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		5	326	0	0	0	1	0	5	326				
TLN1	7094	broad.mit.edu	37	9	35717254	35717254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:35717254G>A	ENST00000314888.9	-	19	2700	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	783					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACATGCTGCAGCAGCTCA	0.582																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2347-2349)Cag>Tag		talin 1							82.0	80.0	81.0					9																	35717254		2203	4300	6503	SO:0001587	stop_gained	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35717254G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2347C>T	9.37:g.35717254G>A	ENSP00000316029:p.Gln783*		Somatic				TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783*	p.Q783*	NM_006289.3	NP_006280.3	WXS	Illumina GAIIx	Phase_I	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		19	2700	-	all_epithelial(49;0.167)		783					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Nonsense_Mutation	SNP	ENST00000314888.9	37	c.2347C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	43	10.179092	0.99353	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	5.6	5.6	0.85130	.	0.056732	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-14.9252	15.9116	0.79477	0.0:0.1352:0.8648:0.0	.	.	.	.	X	783	.	ENSP00000316029:Q783X	Q	-	1	0	TLN1	35707254	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.882000	0.87258	2.653000	0.90120	0.561000	0.74099	CAG		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		6	241	0	0	0	1	0	6	241				
UBC	7316	broad.mit.edu	37	12	125397952	125397952	+	Silent	SNP	G	G	A	rs544951317	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:125397952G>A	ENST00000538617.1	-	3	682	c.366C>T	c.(364-366)gcC>gcT	p.A122A	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000536769.1_Silent_p.A122A|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.A122A|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	502	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTGCTTTCCGGCAAAGATCA	0.547													-|||	2	0.000399361	0.0	0.0	5008	,	,		28169	0.002		0.0	False		,,,				2504	0.0					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(364-366)gcC>gcT		ubiquitin C							152.0	144.0	147.0					12																	125397952		2203	4298	6501	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397952G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.366C>T	12.37:g.125397952G>A			Somatic				UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.A122A|UBC_ENST00000538617.1_Silent_p.A122A	p.A122A			WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1942	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		122			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.366C>T																																																																																					0.547	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		19	465	0	0	0	1	0	19	465				
PCDHGA2	56113	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	248	Cadherin 3. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(742-744)cGc>cAc									77.0	78.0	77.0					5																	140719281		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140719281G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.743G>A	5.37:g.140719281G>A	ENSP00000378077:p.Arg248His		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.R248H	NM_018915.2	NP_061738.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	743	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.743G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	5.530	0.282755	0.10458	.	.	ENSG00000081853	ENST00000394576	T	0.01767	4.65	5.26	0.19	0.15125	Cadherin (4);Cadherin-like (1);	1.220540	0.06134	N	0.671214	T	0.02688	0.0081	L	0.58925	1.835	0.09310	N	1	B;B	0.24426	0.059;0.103	B;B	0.26969	0.021;0.075	T	0.46386	-0.9195	10	0.40728	T	0.16	.	5.2025	0.15273	0.4645:0.2358:0.2997:0.0	.	248;248	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	248	ENSP00000378077:R248H	ENSP00000378077:R248H	R	+	2	0	PCDHGA2	140699465	0.000000	0.05858	0.992000	0.48379	0.024000	0.10985	-1.264000	0.02847	0.325000	0.23359	-0.140000	0.14226	CGC		0.557	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	223	0	0	0	1	0	4	223				
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	196	0	0	0	1	0	6	196				
SPATA31D5P	347127	broad.mit.edu	37	9	84530754	84530754	+	RNA	SNP	G	G	A	rs373002072		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:84530754G>A	ENST00000527857.1	+	0	776					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TTTTCCCACCGCATCACATTC	0.527																																						ENST00000527857.1																			0																																																			347127							g.chr9:84530754G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530754G>A			Somatic						NR_026851.1		WXS	Illumina GAIIx	Phase_I					0	776	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.527	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		5	401	0	0	0	1	0	5	401				
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:2876174T>A	ENST00000520002.1	-	53	8414		c.e53-2		CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.e53-2		CUB and Sushi multiple domains 1							88.0	85.0	86.0					8																	2876174		1863	4099	5962	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2876174T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7859-2A>T	8.37:g.2876174T>A			Somatic				CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000542608.1_Intron				WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8414	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37			.	.	.	.	.	.	.	.	.	.	T	14.05	2.420236	0.42918	.	.	ENSG00000183117	ENST00000335551;ENST00000520002;ENST00000318252;ENST00000537824	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9954	0.71428	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2863581	1.000000	0.71417	0.703000	0.30354	0.290000	0.27261	7.785000	0.85724	2.001000	0.58596	0.533000	0.62120	.		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	7	222	0	0	0	1	0	7	222				
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGTTCTAGTTCCTTAAT	0.398																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.e7-1		ATP-binding cassette, sub-family A (ABC1), member 13							164.0	166.0	165.0					7																	48269420		1870	4103	5973	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48269420A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.633-1A>T	7.37:g.48269420A>T			Somatic						NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			7	656	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590645	0.66219	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3816	0.55309	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48239966	0.994000	0.37717	0.086000	0.20670	0.945000	0.59286	4.593000	0.61034	2.182000	0.69389	0.533000	0.62120	.		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	7	679	0	0	0	1	0	7	679				
OR10G7	390265	broad.mit.edu	37	11	123908827	123908827	+	Silent	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:123908827T>C	ENST00000330487.5	-	1	890	c.882A>G	c.(880-882)gtA>gtG	p.V294V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGCTTTCTTTACCTCCTTGT	0.438																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(880-882)gtA>gtG		olfactory receptor, family 10, subfamily G, member 7							71.0	69.0	70.0					11																	123908827		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123908827T>C	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.882A>G	11.37:g.123908827T>C			Somatic					p.V294V	NM_001004463.1	NP_001004463.1	WXS	Illumina GAIIx	Phase_I	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	890	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	294					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.882A>G	CCDS31705.1																																																																																				0.438	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		3	134	0	0	0	1	0	3	134				
NAE1	8883	broad.mit.edu	37	16	66844677	66844677	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:66844677T>A	ENST00000290810.3	-	14	1132		c.e14-2		NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000379463.2_Splice_Site|NAE1_ENST00000359087.4_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)	TCACGGTAACTAAAAAAGAAT	0.343																																						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.e15-2		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						91.0	89.0	90.0					16																	66844677		2200	4300	6500	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.chr16:66844677T>A	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.1035-2A>T	16.37:g.66844677T>A			Somatic				NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_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)	15	1209	-		Ovarian(137;0.0563)						A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Splice_Site	SNP	ENST00000290810.3	37		CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.040061	0.55003	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7654	0.78123	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAE1	65402178	1.000000	0.71417	0.965000	0.40720	0.581000	0.36288	6.861000	0.75478	2.127000	0.65507	0.533000	0.62120	.		0.343	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	Intron	11	234	0	0	0	1	0	11	234				
AP1M1	8907	broad.mit.edu	37	19	16317206	16317206	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:16317206A>T	ENST00000291439.3	+	3	703	c.254A>T	c.(253-255)tAt>tTt	p.Y85F	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	85					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						TCTTTCCTCTATAAGGTGGTG	0.592																																						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.(253-255)tAt>tTt		adaptor-related protein complex 1, mu 1 subunit							305.0	285.0	292.0					19																	16317206		2203	4300	6503	SO:0001583	missense	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.chr19:16317206A>T		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.254A>T	19.37:g.16317206A>T	ENSP00000291439:p.Tyr85Phe		Somatic				AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85F	p.Y85F	NM_032493.3	NP_115882.1	WXS	Illumina GAIIx	Phase_I	Q9BXS5	AP1M1_HUMAN			3	703	+			85					Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.254A>T	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615852	0.46631	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.64803	0.47;0.48;-0.12	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.81802	2.56	0.80722	D	1	B;P;P	0.50710	0.014;0.937;0.938	B;P;P	0.61003	0.049;0.799;0.882	T	0.78298	-0.2258	10	0.52906	T	0.07	-18.4241	11.9469	0.52934	1.0:0.0:0.0:0.0	.	85;85;85	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	F	85	ENSP00000388996:Y85F;ENSP00000291439:Y85F;ENSP00000411498:Y85F	ENSP00000291439:Y85F	Y	+	2	0	AP1M1	16178206	1.000000	0.71417	0.902000	0.35471	0.518000	0.34316	8.716000	0.91420	1.511000	0.48818	0.533000	0.62120	TAT		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		8	678	0	0	0	1	0	8	678				
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	SYNJ2BP_ENST00000554216.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	28	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522																																						ENST00000256366.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(82-84)gtC>gtT		synaptojanin 2 binding protein							56.0	54.0	55.0					14																	70855304		2203	4300	6503	SO:0001819	synonymous_variant	55333							g.chr14:70855304G>A	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.84C>T	14.37:g.70855304G>A			Somatic				RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	p.V28V	NM_018373.2	NP_060843.2	WXS	Illumina GAIIx	Phase_I				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	2	165	-								Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	c.84C>T	CCDS9803.1																																																																																				0.522	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		16	39	0	0	0	1	0	16	39				
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e12-2		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							157.0	150.0	152.0					8																	53077787		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53077787T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-2A>T	8.37:g.53077787T>A			Somatic						NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			12	1888	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797320	0.90538	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST18	53240340	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	7.903000	0.87398	2.255000	0.74692	0.533000	0.62120	.		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	6	387	0	0	0	1	0	6	387				
IGHV3-48	28424	broad.mit.edu	37	14	106994250	106994250	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106994250G>A	ENST00000390624.2	-	0	96									immunoglobulin heavy variable 3-48																		GGAAAACCCAGCACAGCCCCA	0.473																																						ENST00000390624.2																			0																				191.0	180.0	183.0					14																	106994250		1898	4119	6017			28424							g.chr14:106994250G>A	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106994250G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	96	-									RNA	SNP	ENST00000390624.2	37																																																																																						0.473	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		4	395	0	0	0	1	0	4	395				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T			Somatic						NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	14	587	0	0	0	1	0	14	587				
CYP2A13	1553	broad.mit.edu	37	19	41596049	41596049	+	Silent	SNP	A	A	G	rs571383026		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:41596049A>G	ENST00000330436.3	+	3	441	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	147					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCATCGAGGAACGCATCCAGG	0.697													a|||	1	0.000199681	0.0	0.0	5008	,	,		12278	0.0		0.0	False		,,,				2504	0.001					ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(439-441)gaA>gaG		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						32.0	33.0	32.0					19																	41596049		2202	4300	6502	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596049A>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.441A>G	19.37:g.41596049A>G			Somatic					p.E147E	NM_000766.4	NP_000757.2	WXS	Illumina GAIIx	Phase_I	Q16696	CP2AD_HUMAN			3	441	+			147					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.441A>G	CCDS12571.1																																																																																				0.697	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		3	141	0	0	0	1	0	3	141				
SYNRG	11276	broad.mit.edu	37	17	35879085	35879085	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:35879085G>T	ENST00000339208.6	-	22	4043	c.3903C>A	c.(3901-3903)gtC>gtA	p.V1301V	SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000346661.4_Silent_p.V1289V|SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000345615.4_Silent_p.V1211V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1301					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTTGGTTCGACACAGTTGA	0.517																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3901-3903)gtC>gtA		synergin, gamma							209.0	203.0	205.0					17																	35879085		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35879085G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3903C>A	17.37:g.35879085G>T			Somatic				SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000345615.4_Silent_p.V1211V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000346661.4_Silent_p.V1289V	p.V1301V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina GAIIx	Phase_I	Q9UMZ2	SYNRG_HUMAN			22	4043	-			1301					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3903C>A	CCDS11321.1																																																																																				0.517	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		41	595	1	0	1.7489e-18	1	1.91725e-18	41	595				
CEACAM5	1048	broad.mit.edu	37	19	42221515	42221515	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:42221515C>T	ENST00000221992.6	+	5	1214	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	367	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCGGTCAGTCCCAGGCTGCAG	0.498																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1099-1101)cCc>cTc		carcinoembryonic antigen-related cell adhesion molecule 5							193.0	178.0	183.0					19																	42221515		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42221515C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1100C>T	19.37:g.42221515C>T	ENSP00000221992:p.Pro367Leu		Somatic				CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L	p.P367L	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	5	1214	+			367			Ig-like 4.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1100C>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773837	0.16051	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.66815	-0.23;-0.23	2.11	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63861	0.2547	M	0.77616	2.38	0.09310	N	1	B;B	0.28233	0.204;0.004	B;B	0.32342	0.139;0.144	T	0.61148	-0.7121	9	0.72032	D	0.01	.	8.2266	0.31572	0.7295:0.2705:0.0:0.0	.	367;367	P06731;Q53G30	CEAM5_HUMAN;.	L	367	ENSP00000221992:P367L;ENSP00000385072:P367L	ENSP00000221992:P367L	P	+	2	0	CEACAM5	46913355	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.893000	0.04127	-0.866000	0.04068	-0.532000	0.04303	CCC		0.498	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		5	610	0	0	0	1	0	5	610				
UBR5	51366	broad.mit.edu	37	8	103372895	103372895	+	Splice_Site	SNP	T	T	A	rs35923887		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:103372895T>A	ENST00000520539.1	-	4	796		c.e4-2		UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTACCATCCTAAAAGCAAAG	0.323																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.e4-2		ubiquitin protein ligase E3 component n-recognin 5							97.0	104.0	101.0					8																	103372895		2203	4298	6501	SO:0001630	splice_region_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103372895T>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.190-2A>T	8.37:g.103372895T>A			Somatic				UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site		NM_015902.5	NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		4	796	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)							B2RP24|J3KMW7|O94970|Q9NPL3	Splice_Site	SNP	ENST00000520539.1	37		CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.888650	0.72524	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2961	0.73910	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR5	103442071	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.629000	0.83207	2.098000	0.63641	0.454000	0.30748	.		0.323	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	Intron	5	239	0	0	0	1	0	5	239				
SCGB1D4	404552	broad.mit.edu	37	11	62065065	62065065	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62065065C>T	ENST00000358585.1	-	2	174	c.121G>A	c.(121-123)Gcg>Acg	p.A41T		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	41						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						AGGTTTACCGCAGCGTCACTT	0.438																																						ENST00000358585.1																			0				lung(1)|prostate(1)	2						c.(121-123)Gcg>Acg		secretoglobin, family 1D, member 4							137.0	142.0	140.0					11																	62065065		2202	4299	6501	SO:0001583	missense	404552					extracellular region	binding	g.chr11:62065065C>T	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.121G>A	11.37:g.62065065C>T	ENSP00000351395:p.Ala41Thr		Somatic					p.A41T	NM_206998.1	NP_996881.1	WXS	Illumina GAIIx	Phase_I	Q6XE38	SG1D4_HUMAN			2	174	-			41					A1L4Q8	Missense_Mutation	SNP	ENST00000358585.1	37	c.121G>A	CCDS31583.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.240833	0.00274	.	.	ENSG00000197745	ENST00000358585	T	0.13657	2.57	1.64	-3.27	0.05048	.	32.578500	0.00357	N	0.000029	T	0.09247	0.0228	.	.	.	0.09310	N	1	B	0.28820	0.224	B	0.25614	0.062	T	0.18304	-1.0341	9	0.26408	T	0.33	.	3.7174	0.08444	0.1229:0.5263:0.214:0.1368	.	41	Q6XE38	SG1D4_HUMAN	T	41	ENSP00000351395:A41T	ENSP00000351395:A41T	A	-	1	0	SCGB1D4	61821641	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.508000	0.00020	-4.258000	0.00061	-3.049000	0.00069	GCG		0.438	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	NM_206998		5	425	0	0	0	1	0	5	425				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000455934.2_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	44	0	0	0	1	0	4	44				
OR10Z1	128368	broad.mit.edu	37	1	158577035	158577035	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:158577035G>A	ENST00000361284.1	+	1	807	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTCTCTTGAGAGAGATCAGC	0.478																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(805-807)gaG>gaA		olfactory receptor, family 10, subfamily Z, member 1							232.0	233.0	233.0					1																	158577035		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577035G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.807G>A	1.37:g.158577035G>A			Somatic					p.E269E	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			1	807	+	all_hematologic(112;0.0378)		269					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.807G>A	CCDS30901.1																																																																																				0.478	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		5	573	0	0	0	1	0	5	573				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	11	72	0	0	0	1	0	11	72				
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2443-2445)tAt>tTt		TBC1 domain family, member 8B (with GRAM domain)							128.0	118.0	121.0					X																	106109045		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109045A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2444A>T	X.37:g.106109045A>T	ENSP00000349781:p.Tyr815Phe		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	p.Y815F	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			16	2618	+			815					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2444A>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420514|4.420514	0.83559|0.83559	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.59364	.|0.27;0.27	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.83483|0.83483	2.645|2.645	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	T|T	0.76528|0.76528	-0.2926|-0.2926	5|10	.|0.33141	.|T	.|0.24	-5.6795|-5.6795	13.501|13.501	0.61454|0.61454	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|815	.|Q0IIM8	.|TBC8B_HUMAN	F|F	77|815;809;77	.|ENSP00000349781:Y815F;ENSP00000276175:Y809F	.|ENSP00000276175:Y809F	L|Y	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105995701|105995701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	8.962000|8.962000	0.93254|0.93254	1.868000|1.868000	0.54150|0.54150	0.412000|0.412000	0.27726|0.27726	TTA|TAT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		8	224	0	0	0	1	0	8	224				
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3463-3465)ttG>ttT		autism susceptibility candidate 2							38.0	43.0	41.0					7																	70255667		2203	4299	6502	SO:0001583	missense	26053							g.chr7:70255667G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3465G>T	7.37:g.70255667G>T	ENSP00000344087:p.Leu1155Phe		Somatic				AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	p.L1155F	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3786	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1155			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3465G>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513129	0.64522	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.44482	0.97;0.92	4.62	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.53997	0.1831	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.51220	-0.8733	9	.	.	.	-16.9882	7.7553	0.28921	0.0817:0.0:0.7548:0.1636	.	607;1131;1155	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	1131;1155	ENSP00000385263:L1131F;ENSP00000344087:L1155F	.	L	+	3	2	AUTS2	69893603	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.310000	0.51911	1.144000	0.42321	0.655000	0.94253	TTG		0.692	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			11	47	1	0	4.36969e-10	1	4.66555e-10	11	47				
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107592482G>C	ENST00000222399.6	-	23	3496	c.3266C>G	c.(3265-3267)gCt>gGt	p.A1089G	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1113G	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12. {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						GAAGGAATGAGCAGCATTGCA	0.567																																						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.(3337-3339)gCt>gGt		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						57.0	42.0	47.0					7																	107592482		2203	4300	6503	SO:0001583	missense	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.chr7:107592482G>C	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.3266C>G	7.37:g.107592482G>C	ENSP00000222399:p.Ala1089Gly		Somatic				LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G	p.A1113G			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			21	3522	-			1089			Laminin EGF-like 12.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3338C>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571707	0.13623	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.62105	0.05;0.05	4.93	0.837	0.18896	EGF-like, laminin (3);	.	.	.	.	T	0.51075	0.1653	L	0.50919	1.6	0.18873	N	0.999988	B;B	0.23650	0.04;0.089	B;B	0.26969	0.063;0.075	T	0.38200	-0.9672	9	0.23891	T	0.37	.	6.4453	0.21873	0.1399:0.0:0.3551:0.505	.	1089;1113	P07942;G3XAI2	LAMB1_HUMAN;.	G	1113;1089	ENSP00000377191:A1113G;ENSP00000222399:A1089G	ENSP00000222399:A1089G	A	-	2	0	LAMB1	107379718	0.000000	0.05858	0.002000	0.10522	0.437000	0.31866	0.727000	0.25999	0.036000	0.15547	-0.274000	0.10170	GCT		0.567	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		68	52	0	0	0	1	0	68	52				
FAM198B	51313	broad.mit.edu	37	4	159092036	159092036	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:159092036A>T	ENST00000296530.8	-	2	1113	c.492T>A	c.(490-492)ccT>ccA	p.P164P	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Silent_p.P164P|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000585682.1_Silent_p.P164P|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Silent_p.P164P|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	164						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GAGCGTACCCAGGTGCTACAG	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(490-492)ccT>ccA		family with sequence similarity 198, member B							54.0	55.0	54.0					4																	159092036		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159092036A>T		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.492T>A	4.37:g.159092036A>T			Somatic	OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000585682.1_Silent_p.P164P|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Silent_p.P164P|FAM198B_ENST00000393807.5_Silent_p.P164P|FAM198B_ENST00000589306.1_Intron	p.P164P	NM_016613.6	NP_057697.2	WXS	Illumina GAIIx	Phase_I	Q6UWH4	F198B_HUMAN			2	1113	-			164					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.492T>A	CCDS3798.1																																																																																				0.637	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		3	114	0	0	0	1	0	3	114				
GHSR	2693	broad.mit.edu	37	3	172165637	172165637	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:172165637G>T	ENST00000241256.2	-	1	609	c.567C>A	c.(565-567)ggC>ggA	p.G189G	GHSR_ENST00000427970.1_Silent_p.G189G	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	189					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAGGGTCGGTGCCGTTCTCGT	0.642																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(565-567)ggC>ggA		growth hormone secretagogue receptor							46.0	41.0	42.0					3																	172165637		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165637G>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.567C>A	3.37:g.172165637G>T			Somatic				GHSR_ENST00000427970.1_Silent_p.G189G	p.G189G	NM_198407.2	NP_940799.1	WXS	Illumina GAIIx	Phase_I	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	609	-	Ovarian(172;0.00143)|Breast(254;0.197)		189					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.567C>A	CCDS3218.1																																																																																				0.642	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		6	91	1	0	5.9392e-07	1	6.24377e-07	6	91				
CARD6	84674	broad.mit.edu	37	5	40854274	40854274	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:40854274C>G	ENST00000254691.5	+	3	3039	c.2840C>G	c.(2839-2841)tCc>tGc	p.S947C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	947					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCCGATCAGTCCAACCCATCC	0.512																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2839-2841)tCc>tGc		caspase recruitment domain family, member 6							195.0	214.0	207.0					5																	40854274		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854274C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2840C>G	5.37:g.40854274C>G	ENSP00000254691:p.Ser947Cys		Somatic				CARD6_ENST00000381677.3_Intron	p.S947C	NM_032587.3	NP_115976.2	WXS	Illumina GAIIx	Phase_I	Q9BX69	CARD6_HUMAN			3	3039	+			947					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2840C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424958	0.25639	.	.	ENSG00000132357	ENST00000254691	D	0.96396	-4.0	3.49	0.456	0.16655	.	1.106060	0.06961	N	0.816424	D	0.90614	0.7057	N	0.19112	0.55	0.09310	N	0.999999	D	0.54047	0.964	B	0.36959	0.237	T	0.83177	-0.0091	10	0.87932	D	0	0.1788	9.0038	0.36100	0.5861:0.4139:0.0:0.0	.	947	Q9BX69	CARD6_HUMAN	C	947	ENSP00000254691:S947C	ENSP00000254691:S947C	S	+	2	0	CARD6	40890031	0.019000	0.18553	0.001000	0.08648	0.079000	0.17450	0.993000	0.29680	0.082000	0.17018	0.313000	0.20887	TCC		0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			9	478	0	0	0	1	0	9	478				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A			Somatic				BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	4	103	0	0	0	1	0	4	103				
SPP1	6696	broad.mit.edu	37	4	88903976	88903976	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:88903976T>A	ENST00000395080.3	+	7	1000	c.873T>A	c.(871-873)agT>agA	p.S291R	SPP1_ENST00000237623.7_Missense_Mutation_p.S277R|SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	291					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACCCCAAAAGTAAGGAAGAAG	0.373																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.(829-831)agT>agA		secreted phosphoprotein 1							94.0	103.0	100.0					4																	88903976		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88903976T>A		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.873T>A	4.37:g.88903976T>A	ENSP00000378517:p.Ser291Arg		Somatic				SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.S291R	p.S277R	NM_000582.2	NP_000573.1	WXS	Illumina GAIIx	Phase_I	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	6	979	+		Hepatocellular(203;0.114)	291	SHEF -> GNSL (in Ref. 2).				B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.831T>A	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831452	0.50845	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804	T;T;T	0.44482	0.92;0.92;0.92	5.8	4.62	0.57501	.	0.309873	0.31404	N	0.007708	T	0.58177	0.2104	M	0.64404	1.975	0.35971	D	0.835305	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999	T	0.67264	-0.5714	10	0.87932	D	0	-16.5947	8.6095	0.33793	0.0:0.0864:0.0:0.9136	.	304;250;277;264;291	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	R	269;250;277;291;264	ENSP00000237623:S277R;ENSP00000378517:S291R;ENSP00000354042:S264R	ENSP00000237623:S277R	S	+	3	2	SPP1	89123000	0.369000	0.25039	0.376000	0.26042	0.285000	0.27093	0.322000	0.19576	1.024000	0.39682	0.523000	0.50628	AGT		0.373	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			4	109	0	0	0	1	0	4	109				
MUC21	394263	broad.mit.edu	37	6	30954569	30954569	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:30954569G>A	ENST00000376296.3	+	2	858	c.617G>A	c.(616-618)gGg>gAg	p.G206E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	206	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAGCACA	0.622																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(616-618)gGg>gAg		mucin 21, cell surface associated							153.0	150.0	151.0					6																	30954569		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954569G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.617G>A	6.37:g.30954569G>A	ENSP00000365473:p.Gly206Glu		Somatic				MUC21_ENST00000486149.2_5'UTR	p.G206E	NM_001010909.2	NP_001010909.2	WXS	Illumina GAIIx	Phase_I	Q5SSG8	MUC21_HUMAN			2	858	+			206			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.617G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704470	0.15172	.	.	ENSG00000204544	ENST00000376296	T	0.03035	4.07	3.86	-2.11	0.07187	.	.	.	.	.	T	0.00724	0.0024	N	0.24115	0.695	0.09310	N	1	B	0.30851	0.297	B	0.27262	0.078	T	0.46484	-0.9188	8	.	.	.	0.0337	5.4592	0.16607	0.2821:0.4297:0.2882:0.0	.	206	Q5SSG8	MUC21_HUMAN	E	206	ENSP00000365473:G206E	.	G	+	2	0	MUC21	31062548	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.245000	0.02899	-0.199000	0.10317	-0.332000	0.08345	GGG		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		4	210	0	0	0	1	0	4	210				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403																																						ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.e3-1		succinate dehydrogenase complex assembly factor 2							96.0	93.0	94.0					11																	61205474		2202	4299	6501	SO:0001630	splice_region_variant	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205474A>T	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.261-1A>T	11.37:g.61205474A>T			Somatic				SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site		NM_017841.2	NP_060311.1	WXS	Illumina GAIIx	Phase_I	Q9NX18	SDHF2_HUMAN			3	334	+									Splice_Site	SNP	ENST00000301761.2	37		CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500876	0.64298	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHAF2;RP11-286N22.8	60962050	1.000000	0.71417	0.977000	0.42913	0.540000	0.34992	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	.		0.403	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841	Intron	6	216	0	0	0	1	0	6	216				
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(883-885)Tgc>Ggc		secreted frizzled-related protein 2							76.0	69.0	71.0					4																	154702608		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702608A>C	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.883T>G	4.37:g.154702608A>C	ENSP00000274063:p.Cys295Gly		Somatic					p.C295G	NM_003013.2	NP_003004.1	WXS	Illumina GAIIx	Phase_I	Q96HF1	SFRP2_HUMAN			3	1167	-	all_hematologic(180;0.093)	Renal(120;0.117)	295			NTR.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.883T>G	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754815	0.69648	.	.	ENSG00000145423	ENST00000274063	D	0.84146	-1.81	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92900	0.6338	10	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	295	Q96HF1	SFRP2_HUMAN	G	295	ENSP00000274063:C295G	ENSP00000274063:C295G	C	-	1	0	SFRP2	154922058	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.513000	0.90542	2.268000	0.75426	0.533000	0.62120	TGC		0.617	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			31	71	0	0	0	1	0	31	71				
CNOT6	57472	broad.mit.edu	37	5	179994847	179994847	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:179994847A>T	ENST00000393356.1	+	11	1296		c.e11-1		CNOT6_ENST00000261951.4_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTGTTTTAGATTTACTTT	0.403																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.e11-1		CCR4-NOT transcription complex, subunit 6							95.0	96.0	95.0					5																	179994847		2203	4300	6503	SO:0001630	splice_region_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179994847A>T	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.873-1A>T	5.37:g.179994847A>T			Somatic				CNOT6_ENST00000261951.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	11	1296	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)						A7MD46|D3DWR0	Splice_Site	SNP	ENST00000393356.1	37		CCDS4455.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404986	0.83230	.	.	ENSG00000113300	ENST00000261951;ENST00000393356;ENST00000504343	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT6	179927453	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.207000	0.71202	0.533000	0.62120	.		0.403	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	Intron	5	117	0	0	0	1	0	5	117				
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							165.0	165.0	165.0					2																	32832520		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832520A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1A>T	2.37:g.32832520A>T			Somatic						NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052658	0.55218	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686024	1.000000	0.71417	0.933000	0.37362	0.419000	0.31324	9.335000	0.96500	1.994000	0.58287	0.477000	0.44152	.		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	11	456	0	0	0	1	0	11	456				
AGTR1	185	broad.mit.edu	37	3	148459298	148459298	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:148459298C>T	ENST00000497524.1	+	2	867	c.476C>T	c.(475-477)gCc>gTc	p.A159V	AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000542281.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	159					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCAGGCTTGGCCAGTTTGCCA	0.458																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(475-477)gCc>gTc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						96.0	93.0	94.0					3																	148459298		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459298C>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.476C>T	3.37:g.148459298C>T	ENSP00000419422:p.Ala159Val		Somatic				AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000497524.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V	p.A159V	NM_031850.3	NP_114038.4	WXS	Illumina GAIIx	Phase_I	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	922	+			159					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.476C>T	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127386	0.37533	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.201915	0.43260	D	0.000586	T	0.63462	0.2513	L	0.40543	1.245	0.48830	D	0.999715	B	0.15473	0.013	B	0.23574	0.047	T	0.59910	-0.7365	10	0.59425	D	0.04	-8.8392	19.387	0.94560	0.0:1.0:0.0:0.0	.	159	P30556	AGTR1_HUMAN	V	159	ENSP00000419422:A159V;ENSP00000273430:A159V;ENSP00000443186:A159V;ENSP00000398832:A159V;ENSP00000385612:A159V;ENSP00000419783:A159V;ENSP00000418084:A159V;ENSP00000418851:A159V;ENSP00000385641:A159V	ENSP00000273430:A159V	A	+	2	0	AGTR1	149941988	1.000000	0.71417	0.998000	0.56505	0.718000	0.41266	6.023000	0.70848	2.572000	0.86782	0.655000	0.94253	GCC		0.458	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			4	266	0	0	0	1	0	4	266				
TXNDC15	79770	broad.mit.edu	37	5	134235291	134235291	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:134235291A>T	ENST00000358387.4	+	5	1624	c.999A>T	c.(997-999)ttA>ttT	p.L333F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	333					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATTCTTTTTAATTAGTTTTA	0.403																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(997-999)ttA>ttT		thioredoxin domain containing 15							121.0	120.0	120.0					5																	134235291		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134235291A>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.999A>T	5.37:g.134235291A>T	ENSP00000351157:p.Leu333Phe		Somatic				TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	p.L333F	NM_024715.3	NP_078991.3	WXS	Illumina GAIIx	Phase_I	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1624	+			333					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.999A>T	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.93|18.93|18.93	3.727882|3.727882|3.727882	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000509954|ENST00000508779	T;T|.|.	0.54675|.|.	0.56;0.57|.|.	5.66|5.66|5.66	4.5|4.5|4.5	0.54988|0.54988|0.54988	.|.|.	0.225948|.|.	0.38663|.|.	N|.|.	0.001619|.|.	T|T|.	0.36386|0.36386|.	0.0965|0.0965|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.44834|0.44834|0.44834	D|D|D	0.997845|0.997845|0.997845	D|.|.	0.69078|.|.	0.997|.|.	D|.|.	0.63597|.|.	0.916|.|.	T|T|.	0.25328|0.25328|.	-1.0135|-1.0135|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-10.2423|-10.2423|-10.2423	0.9466|0.9466|0.9466	0.01367|0.01367|0.01367	0.5017:0.1605:0.1837:0.1541|0.5017:0.1605:0.1837:0.1541|0.5017:0.1605:0.1837:0.1541	.|.|.	333|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	F|Y|L	317;333;310|88|317	ENSP00000351157:L333F;ENSP00000443942:L310F|.|.	ENSP00000351157:L333F|.|.	L|N|X	+|+|+	3|1|2	2|0|2	TXNDC15|TXNDC15|TXNDC15	134263190|134263190|134263190	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	2.129000|2.129000|2.129000	0.42055|0.42055|0.42055	0.966000|0.966000|0.966000	0.38159|0.38159|0.38159	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	TTA|AAT|TAA		0.403	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		4	64	0	0	0	1	0	4	64				
GOLIM4	27333	broad.mit.edu	37	3	167750453	167750453	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:167750453T>C	ENST00000470487.1	-	9	1720	c.1031A>G	c.(1030-1032)gAg>gGg	p.E344G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	344	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						TTCTTCCTCCTCCAGGGCCTT	0.552																																						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.(1030-1032)gAg>gGg		golgi integral membrane protein 4							185.0	168.0	173.0					3																	167750453		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750453T>C	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.1031A>G	3.37:g.167750453T>C	ENSP00000417354:p.Glu344Gly		Somatic				GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G	p.E344G	NM_014498.3	NP_055313.1	WXS	Illumina GAIIx	Phase_I	O00461	GOLI4_HUMAN			9	1720	-			344			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1031A>G	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615320	0.46631	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.25	2.7	0.31948	.	0.211227	0.47852	D	0.000206	T	0.60209	0.2251	M	0.72118	2.19	0.49213	D	0.999769	P;P	0.45827	0.867;0.867	P;P	0.47346	0.544;0.544	T	0.56463	-0.7975	9	0.31617	T	0.26	-8.2301	11.5654	0.50802	0.0:0.0:0.2842:0.7158	.	316;344	F8W785;O00461	.;GOLI4_HUMAN	G	344;316	.	ENSP00000309893:E316G	E	-	2	0	GOLIM4	169233147	0.996000	0.38824	0.820000	0.32676	0.817000	0.46193	2.822000	0.48073	0.268000	0.21939	0.454000	0.30748	GAG		0.552	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			4	342	0	0	0	1	0	4	342				
CEP78	84131	broad.mit.edu	37	9	80856610	80856610	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:80856610A>T	ENST00000424347.2	+	4	788		c.e4-1		CEP78_ENST00000277082.5_Splice_Site|CEP78_ENST00000376597.4_Splice_Site|CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376598.2_Splice_Site			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTTCCATTTTAGTTATTTGTC	0.338																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.e4-1		centrosomal protein 78kDa							90.0	90.0	90.0					9																	80856610		1851	4090	5941	SO:0001630	splice_region_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80856610A>T	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.500-1A>T	9.37:g.80856610A>T			Somatic				CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site|CEP78_ENST00000376598.2_Splice_Site|CEP78_ENST00000277082.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5JTW2	CEP78_HUMAN			4	788	+								A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Splice_Site	SNP	ENST00000424347.2	37			.	.	.	.	.	.	.	.	.	.	a	8.813	0.935595	0.18206	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	.	.	.	5.47	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7943	0.46451	0.8579:0.0:0.0:0.1421	.	.	.	.	.	-1	.	.	.	+	.	.	CEP78	80046430	1.000000	0.71417	0.998000	0.56505	0.059000	0.15707	8.334000	0.90028	0.884000	0.36064	-0.351000	0.07748	.		0.338	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	Intron	6	165	0	0	0	1	0	6	165				
ZNF16	7564	broad.mit.edu	37	8	146156711	146156711	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:146156711G>A	ENST00000276816.4	-	4	1648	c.1462C>T	c.(1462-1464)Ccg>Tcg	p.P488S	ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	488	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATCTGTACGGCTTCTCTCCC	0.547																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1462-1464)Ccg>Tcg		zinc finger protein 16							106.0	98.0	101.0					8																	146156711		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156711G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1462C>T	8.37:g.146156711G>A	ENSP00000276816:p.Pro488Ser		Somatic				ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S	p.P488S	NM_001029976.2	NP_001025147.2	WXS	Illumina GAIIx	Phase_I	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1648	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	488					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1462C>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451513	0.43531	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.16743	2.32;2.32	3.91	2.98	0.34508	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37183	0.0994	M	0.62088	1.915	0.32756	N	0.505766	D	0.89917	1.0	D	0.87578	0.998	T	0.48364	-0.9042	9	0.62326	D	0.03	.	12.383	0.55317	0.0:0.1706:0.8294:0.0	.	488	P17020	ZNF16_HUMAN	S	488	ENSP00000276816:P488S;ENSP00000378369:P488S	ENSP00000276816:P488S	P	-	1	0	ZNF16	146127515	1.000000	0.71417	0.990000	0.47175	0.176000	0.22953	4.555000	0.60767	2.006000	0.58801	0.462000	0.41574	CCG		0.547	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		5	367	0	0	0	1	0	5	367				
DISP1	84976	broad.mit.edu	37	1	223163965	223163965	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:223163965A>T	ENST00000284476.6	+	4	703		c.e4-1		DISP1_ENST00000495684.1_Splice_Site	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)						determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGTGTTTTGTAGTTATGCAGC	0.478																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.e4-1		dispatched homolog 1 (Drosophila)							205.0	187.0	193.0					1																	223163965		2203	4300	6503	SO:0001630	splice_region_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223163965A>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.540-1A>T	1.37:g.223163965A>T			Somatic				DISP1_ENST00000495684.1_Splice_Site		NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	4	703	+								Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Splice_Site	SNP	ENST00000284476.6	37		CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335837	0.81801	.	.	ENSG00000154309	ENST00000284476	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5934	0.76558	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DISP1	221230588	1.000000	0.71417	0.606000	0.28943	0.856000	0.48823	9.339000	0.96797	2.088000	0.63022	0.454000	0.30748	.		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	Intron	5	185	0	0	0	1	0	5	185				
MID2	11043	broad.mit.edu	37	X	107148850	107148850	+	Missense_Mutation	SNP	C	C	T	rs138552159		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:107148850C>T	ENST00000262843.6	+	5	1615	c.1067C>T	c.(1066-1068)gCt>gTt	p.A356V	MID2_ENST00000443968.2_Missense_Mutation_p.A356V|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	356	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.A336D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAAAATATTGCTGAGAGGTCA	0.428																																						ENST00000262843.6																			1	Substitution - Missense(1)	p.A336D(1)	large_intestine(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1066-1068)gCt>gTt		midline 2		C	VAL/ALA,VAL/ALA	0,3835		0,0,1632,571	135.0	127.0	130.0		1067,1067	4.4	1.0	X	dbSNP_134	130	1,6727		0,1,2427,1872	no	missense,missense	MID2	NM_012216.3,NM_052817.2	64,64	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign	356/736,356/706	107148850	1,10562	2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107148850C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1067C>T	X.37:g.107148850C>T	ENSP00000262843:p.Ala356Val		Somatic				MID2_ENST00000443968.2_Missense_Mutation_p.A356V|RP6-191P20.4_ENST00000430140.1_RNA	p.A356V	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			5	1615	+			356			COS.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1067C>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834729	0.32421	0.0	1.49E-4	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.59364	0.27;0.29	5.48	4.42	0.53409	B-box, C-terminal (1);COS domain (1);	0.166949	0.53938	D	0.000058	T	0.41673	0.1169	L	0.36672	1.1	0.53688	D	0.99997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.22941	-1.0202	10	0.06891	T	0.86	.	11.1991	0.48730	0.0:0.8906:0.0:0.1094	.	356;356	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	V	356	ENSP00000262843:A356V;ENSP00000413976:A356V	ENSP00000262843:A356V	A	+	2	0	MID2	107035506	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	3.538000	0.53597	2.288000	0.76882	0.600000	0.82982	GCT		0.428	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		6	916	0	0	0	1	0	6	916				
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	CRAMP1L_ENST00000262317.4_Silent_p.G460G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000436138.3_Silent_p.G1079G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3244-3246)ggC>ggA		Crm, cramped-like (Drosophila)							58.0	60.0	60.0					16																	1718106		2149	4255	6404	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1718106C>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3246C>A	16.37:g.1718106C>A			Somatic				CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000262317.4_Silent_p.G460G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G	p.G1082G			WXS	Illumina GAIIx	Phase_I	Q96RY5	CRML_HUMAN			18	3345	+			1082			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.3246C>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	8.298	0.819163	0.16607	.	.	ENSG00000007545	ENST00000415022	.	.	.	5.68	-2.84	0.05751	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	-36.0731	4.027	0.09692	0.14:0.4684:0.2494:0.1421	.	.	.	.	T	183	.	.	P	+	1	0	CRAMP1L	1658107	0.885000	0.30320	0.847000	0.33407	0.638000	0.38207	0.038000	0.13862	-0.204000	0.10235	0.650000	0.86243	CCC		0.617	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			8	145	1	0	0.307466	1	0.307466	8	145				
MEGF10	84466	broad.mit.edu	37	5	126676271	126676271	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:126676271C>T	ENST00000274473.6	+	5	535	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	90	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TATGTATAGGCGCAAGTCTCA	0.418																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(268-270)Cgc>Tgc		multiple EGF-like-domains 10							200.0	187.0	191.0					5																	126676271		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126676271C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.268C>T	5.37:g.126676271C>T	ENSP00000274473:p.Arg90Cys		Somatic				MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C	p.R90C	NM_032446.2	NP_115822.1	WXS	Illumina GAIIx	Phase_I	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	5	535	+		Prostate(80;0.165)	90			EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.268C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237779	0.58886	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.81078	-1.45;2.71;2.71;-1.45	5.3	5.3	0.74995	EMI domain (1);	0.000000	0.64402	D	0.000001	D	0.86381	0.5919	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.85130	0.761;0.997	D	0.84890	0.0836	10	0.38643	T	0.18	-36.1114	13.7123	0.62675	0.1548:0.8452:0.0:0.0	.	90;90	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	90	ENSP00000423354:R90C;ENSP00000423195:R90C;ENSP00000416284:R90C;ENSP00000274473:R90C	ENSP00000274473:R90C	R	+	1	0	MEGF10	126704170	0.916000	0.31088	1.000000	0.80357	0.982000	0.71751	1.862000	0.39448	2.648000	0.89879	0.650000	0.86243	CGC		0.418	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		5	472	0	0	0	1	0	5	472				
IGHG4	3503	broad.mit.edu	37	14	106091410	106091410	+	RNA	SNP	C	C	T	rs373708877		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106091410C>T	ENST00000390543.2	-	0	483							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m 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)										TGCACCTCCACGCCATCCACG	0.607																																						ENST00000390543.2																			0															C		0,4356		0,0,2178	202.0	248.0	233.0			-1.0	0.0	14		233	1,8549		0,1,4274	no	intergenic				0,1,6452	TT,TC,CC		0.0117,0.0,0.0077			106091410	1,12905	2178	4275	6453			3503							g.chr14:106091410C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091410C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	483	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.607	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		8	1102	0	0	0	1	0	8	1102				
BTAF1	9044	broad.mit.edu	37	10	93756124	93756124	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:93756124A>T	ENST00000265990.6	+	24	3617		c.e24-1		BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTGTTTTTAGTTGGTCCAG	0.358																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.e24-1		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							109.0	93.0	98.0					10																	93756124		2203	4300	6503	SO:0001630	splice_region_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93756124A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3310-1A>T	10.37:g.93756124A>T			Somatic						NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			24	3617	+		Colorectal(252;0.0846)						B4E0W6|O43578	Splice_Site	SNP	ENST00000265990.6	37		CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183098	0.78677	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTAF1	93746104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	.		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	Intron	5	107	0	0	0	1	0	5	107				
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:76380267A>T	ENST00000447266.2	+	11	1702		c.e11-1		SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370014.3_Splice_Site|SENP6_ENST00000327284.8_Splice_Site	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e11-1		SUMO1/sentrin specific peptidase 6							74.0	65.0	68.0					6																	76380267		1803	4074	5877	SO:0001630	splice_region_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76380267A>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1225-1A>T	6.37:g.76380267A>T			Somatic				SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site		NM_001100409.1	NP_001093879.1	WXS	Illumina GAIIx	Phase_I	Q9GZR1	SENP6_HUMAN			11	1843	+		all_hematologic(105;0.189)						A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Splice_Site	SNP	ENST00000447266.2	37		CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921043	0.73213	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8735	0.79141	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SENP6	76436987	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.414000	0.73318	2.149000	0.67028	0.533000	0.62120	.		0.323	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	Intron	7	118	0	0	0	1	0	7	118				
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846					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)					GCACACCTTTGCTCACCTCTA	0.463																																						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.(11536-11538)ttG>ttT		mucin 17, cell surface associated							128.0	114.0	119.0					7																	100686235		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686235G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11538G>T	7.37:g.100686235G>T	ENSP00000302716:p.Leu3846Phe		Somatic					p.L3846F	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	11602	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3846					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11538G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	9.834	1.189161	0.21954	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	1.55	-1.45	0.08828	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.58577	0.841	T	0.40997	-0.9533	9	0.26408	T	0.33	.	1.9845	0.03433	0.2308:0.0:0.464:0.3052	.	3846	Q685J3	MUC17_HUMAN	F	3846	ENSP00000302716:L3846F	ENSP00000302716:L3846F	L	+	3	2	MUC17	100472955	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-2.578000	0.00908	-0.020000	0.14032	0.187000	0.17357	TTG		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		31	100	1	0	1.36161e-19	1	1.5007e-19	31	100				
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(79-81)ctA>ctT		tRNA nucleotidyl transferase, CCA-adding, 1							115.0	102.0	107.0					3																	3170805		2203	4300	6503	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3170805A>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.81A>T	3.37:g.3170805A>T			Somatic				TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L	p.L27L	NM_182916.2	NP_886552.2	WXS	Illumina GAIIx	Phase_I	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	2	183	+			27					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.81A>T	CCDS2561.2																																																																																				0.488	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			56	105	0	0	0	1	0	56	105				
POTEG	404785	broad.mit.edu	37	14	19553761	19553761	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:19553761C>A	ENST00000409832.3	+	1	397	c.345C>A	c.(343-345)agC>agA	p.S115R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115								p.S115R(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGGCAAGAGCAAAGTGGGCC	0.597																																						ENST00000409832.3																			1	Substitution - Missense(1)	p.S115R(1)	lung(1)	cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(343-345)agC>agA		POTE ankyrin domain family, member G							391.0	424.0	413.0					14																	19553761		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553761C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.345C>A	14.37:g.19553761C>A	ENSP00000386971:p.Ser115Arg		Somatic					p.S115R	NM_001005356.2	NP_001005356.1	WXS	Illumina GAIIx	Phase_I	Q6S5H5	POTEG_HUMAN			1	397	+			115					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.345C>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	8.629	0.893124	0.17613	.	.	ENSG00000222036	ENST00000409832	T	0.27256	1.68	.	.	.	.	.	.	.	.	T	0.31606	0.0802	L	0.53249	1.67	0.09310	N	1	D	0.59767	0.986	P	0.54924	0.764	T	0.16928	-1.0386	7	0.30854	T	0.27	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	R	115	ENSP00000386971:S115R	ENSP00000386971:S115R	S	+	3	2	POTEG	18623761	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.590000	0.23954	0.162000	0.19483	0.165000	0.16767	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		21	330	1	0	2.24395e-52	1	2.51372e-52	21	330				
SEPT2	4735	broad.mit.edu	37	2	242276907	242276907	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:242276907A>T	ENST00000391973.2	+	6	980	c.452A>T	c.(451-453)tAc>tTc	p.Y151F	SEPT2_ENST00000407971.1_Missense_Mutation_p.Y111F|SEPT2_ENST00000401990.1_Missense_Mutation_p.Y161F|SEPT2_ENST00000360051.3_Missense_Mutation_p.Y151F|SEPT2_ENST00000402092.2_Missense_Mutation_p.Y151F|SEPT2_ENST00000391971.2_Missense_Mutation_p.Y151F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	151	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGTTGCTTTTACTTTATTTCA	0.373																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(451-453)tAc>tTc		septin 2							172.0	164.0	167.0					2																	242276907		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242276907A>T	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.452A>T	2.37:g.242276907A>T	ENSP00000375834:p.Tyr151Phe		Somatic				SEPT2_ENST00000407971.1_Missense_Mutation_p.Y111F|SEPT2_ENST00000391971.2_Missense_Mutation_p.Y151F|SEPT2_ENST00000360051.3_Missense_Mutation_p.Y151F|SEPT2_ENST00000401990.1_Missense_Mutation_p.Y161F|SEPT2_ENST00000402092.2_Missense_Mutation_p.Y151F	p.Y151F	NM_006155.1	NP_006146.1	WXS	Illumina GAIIx	Phase_I	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	6	980	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	151					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.452A>T	CCDS2548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.16|17.16	3.318941|3.318941	0.60524|0.60524	.|.	.|.	ENSG00000168385|ENSG00000168385	ENST00000457874|ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000443492;ENST00000391972;ENST00000449239;ENST00000421717	.|T;T;T;T;T;T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.07|5.07	3.92|3.92	0.45320|0.45320	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77758|0.77758	0.4178|0.4178	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.998;0.999	T|T	0.78432|0.78432	-0.2206|-0.2206	5|10	.|0.62326	.|D	.|0.03	.|.	10.6365|10.6365	0.45569|0.45569	0.9248:0.0:0.0752:0.0|0.9248:0.0:0.0752:0.0	.|.	.|186;111;151	.|Q15019-2;B5MCX3;Q15019	.|.;.;SEPT2_HUMAN	S|F	123|151;111;151;151;161;111;151;111;186;151;6	.|ENSP00000375834:Y151F;ENSP00000397195:Y111F;ENSP00000353157:Y151F;ENSP00000375832:Y151F;ENSP00000385109:Y161F;ENSP00000384525:Y111F;ENSP00000385172:Y151F;ENSP00000399195:Y111F;ENSP00000391717:Y151F;ENSP00000408296:Y6F	.|ENSP00000353157:Y151F	T|Y	+|+	1|2	0|0	SEPT2|SEPT2	241925580|241925580	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.203000|0.203000	0.24098|0.24098	9.004000|9.004000	0.93583|0.93583	0.796000|0.796000	0.33947|0.33947	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.373	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		6	404	0	0	0	1	0	6	404				
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000462753.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							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)					TCTGTACAACTAGAAGGAAAA	0.388																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.e5-2		transmembrane protein 209							53.0	52.0	52.0					7																	129841933		1898	4122	6020	SO:0001630	splice_region_variant	84928					integral to membrane		g.chr7:129841933T>A		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.332-2A>T	7.37:g.129841933T>A			Somatic				TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Splice_Site		NM_032842.3	NP_116231.2	WXS	Illumina GAIIx	Phase_I	Q96SK2	TM209_HUMAN			5	454	-	Melanoma(18;0.0435)							A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Splice_Site	SNP	ENST00000397622.2	37		CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311125	0.60414	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8362	0.63410	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM209	129629169	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	7.281000	0.78621	2.204000	0.70986	0.383000	0.25322	.		0.388	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	Intron	7	178	0	0	0	1	0	7	178				
MT-ND2	4536	broad.mit.edu	37	M	2828	2828	+	5'Flank	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:2828G>A	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						GGCGACCTCGGAGCAGAACCC	0.428																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2828G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2828G>A	Exception_encountered		Somatic						NR_039705.1		WXS	Illumina GAIIx	Phase_I					0	1158	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.428	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		5	30	0	0	0	1	0	5	30				
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			9	Substitution - Missense(9)	p.L189V(9)	endometrium(6)|kidney(3)	endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(565-567)Cta>Gta		emopamil binding protein-like							67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235160G>C	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val		Somatic				EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR	p.L189V	NM_032565.3	NP_115954.1	WXS	Illumina GAIIx	Phase_I	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	615	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	189					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.565C>G	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA		0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		6	61	0	0	0	1	0	6	61				
MT-ND6	4541	broad.mit.edu	37	M	14423	14423	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:14423G>A	ENST00000361681.2	-	1	250	c.251C>T	c.(250-252)tCa>tTa	p.S84L	MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	84					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCTCAACCCCTGACCCCCATG	0.453																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(250-252)tCa>tTa		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14423G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.251C>T	M.37:g.14423G>A	ENSP00000354665:p.Ser84Leu		Somatic					p.S84L			WXS	Illumina GAIIx	Phase_I					1	250	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.251C>T																																																																																					0.453	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		5	29	0	0	0	1	0	5	29				
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T	rs541583849		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3571-3573)gtA>gtT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							162.0	131.0	141.0					10																	93757421		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93757421A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3573A>T	10.37:g.93757421A>T			Somatic				BTAF1_ENST00000544642.1_Silent_p.V19V	p.V1191V	NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			25	3881	+		Colorectal(252;0.0846)	1191					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3573A>T	CCDS7419.1																																																																																				0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		6	147	0	0	0	1	0	6	147				
ADAR	103	broad.mit.edu	37	1	154562732	154562732	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:154562732G>A	ENST00000368474.4	-	7	2623	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	808					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTCACTGGGGTTACCTCTG	0.527																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2422-2424)acC>acT		adenosine deaminase, RNA-specific							102.0	95.0	98.0					1																	154562732		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154562732G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2424C>T	1.37:g.154562732G>A			Somatic				ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T	p.T808T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	7	2623	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		808					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.2424C>T	CCDS1071.1																																																																																				0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		5	109	0	0	0	1	0	5	109				
CYLD	1540	broad.mit.edu	37	16	50827498	50827498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:50827498G>T	ENST00000427738.3	+	16	2597	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	CYLD_ENST00000540145.1_Nonsense_Mutation_p.E798*|RP11-327F22.4_ENST00000564510.1_RNA|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	798	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGCAATGTATGAGTGTAGAGA	0.438			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2392-2394)Gag>Tag		cylindromatosis (turban tumor syndrome)							178.0	163.0	168.0					16																	50827498		1905	4127	6032	SO:0001587	stop_gained	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50827498G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2392G>T	16.37:g.50827498G>T	ENSP00000392025:p.Glu798*		Somatic				CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.E798*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795*	p.E798*			WXS	Illumina GAIIx	Phase_I	Q9NQC7	CYLD_HUMAN			17	2807	+		all_cancers(37;0.0156)	798					O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.2392G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	42	9.197307	0.99098	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.0099	19.2041	0.93723	0.0:0.0:1.0:0.0	.	.	.	.	X	798;798;795;795	.	ENSP00000308928:E798X	E	+	1	0	CYLD	49384999	1.000000	0.71417	0.952000	0.39060	0.960000	0.62799	9.351000	0.97073	2.620000	0.88729	0.655000	0.94253	GAG		0.438	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			16	282	1	0	2.35188e-11	1	2.53756e-11	16	282				
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						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)			TTATTTCTTTAGGTTATTGTG	0.299			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.e18-1		A kinase (PRKA) anchor protein 9							33.0	34.0	34.0					7																	91667731		2202	4289	6491	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667731A>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.4375-1A>T	7.37:g.91667731A>T			Somatic				AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site				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)		18	4599	+	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)							A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37			.	.	.	.	.	.	.	.	.	.	A	19.69	3.874587	0.72180	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5989	0.62007	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91505667	1.000000	0.71417	0.954000	0.39281	0.937000	0.57800	5.928000	0.70088	2.008000	0.58898	0.477000	0.44152	.		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron	4	78	0	0	0	1	0	4	78				
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						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)	CTTTTGTTTTAGTTAATACAC	0.438																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e7-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						87.0	80.0	83.0					8																	42163859		2203	4300	6503	SO:0001630	splice_region_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.chr8:42163859A>T	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.478-1A>T	8.37:g.42163859A>T			Somatic				IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site		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)		7	663	+	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)						B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37		CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595846	0.86953	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2236	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42283016	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.283000	0.95860	2.050000	0.60909	0.533000	0.62120	.		0.438	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Intron	4	117	0	0	0	1	0	4	117				
CMC4	100272147	broad.mit.edu	37	X	154292310	154292310	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:154292310T>A	ENST00000369484.3	-	2	669		c.e2-2		CMC4_ENST00000369479.1_Splice_Site|MTCP1_ENST00000482244.1_5'Flank|MTCP1_ENST00000369476.3_3'UTR	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4						cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											TCCAGAAAACTAAAACAAGAA	0.338																																						ENST00000369484.3																			0											c.e2-2		C-x(9)-C motif containing 4							69.0	76.0	74.0					X																	154292310		2203	4299	6502	SO:0001630	splice_region_variant	100272147							g.chrX:154292310T>A		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.10-2A>T	X.37:g.154292310T>A			Somatic				MTCP1_ENST00000369476.3_3'UTR|CMC4_ENST00000369479.1_Splice_Site		NM_001018024.2	NP_001018024.1	WXS	Illumina GAIIx	Phase_I					2	669	-								Q5HYP9	Splice_Site	SNP	ENST00000369484.3	37		CCDS14764.1																																																																																				0.338	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2	Intron	4	57	0	0	0	1	0	4	57				
FAM120B	84498	broad.mit.edu	37	6	170627767	170627767	+	Missense_Mutation	SNP	A	A	G	rs6900202	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:170627767A>G	ENST00000476287.1	+	2	1397	c.1289A>G	c.(1288-1290)gAc>gGc	p.D430G	FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	430			D -> G (in dbSNP:rs6900202).		cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATGTATACAGACTCTGAACCC	0.512													G|||	41	0.0081869	0.0045	0.0101	5008	,	,		20771	0.0109		0.004	False		,,,				2504	0.0133					ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1288-1290)gAc>gGc		family with sequence similarity 120B							184.0	201.0	195.0					6																	170627767		2203	4299	6502	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627767A>G	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1289A>G	6.37:g.170627767A>G	ENSP00000417970:p.Asp430Gly		Somatic				FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G	p.D430G	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1397	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	430		D -> G (in dbSNP:rs6900202).			B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1289A>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	2.701	-0.271073	0.05716	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08370	3.1;3.12;3.13	3.07	-3.74	0.04385	.	1.370640	0.04162	N	0.323276	T	0.01870	0.0059	L	0.55481	1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44467	-0.9326	10	0.20046	T	0.44	0.676	1.4566	0.02387	0.3827:0.1471:0.3256:0.1447	rs6900202	430;430	Q96EK7;F2Z2E1	F120B_HUMAN;.	G	442;453;430	ENSP00000444125:D442G;ENSP00000440125:D453G;ENSP00000417970:D430G	ENSP00000436640:D430G	D	+	2	0	FAM120B	170469692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	-0.870000	0.04047	-2.164000	0.00325	GAC		0.512	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		5	512	0	0	0	1	0	5	512				
PIP4K2B	8396	broad.mit.edu	37	17	36935784	36935784	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:36935784T>A	ENST00000269554.3	-	5	988		c.e5-2		PIP4K2B_ENST00000311500.6_Splice_Site	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta						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						CACTATAAACTAGAATGGAAA	0.532																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.e5-2		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							77.0	60.0	66.0					17																	36935784		2203	4300	6503	SO:0001630	splice_region_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.chr17:36935784T>A	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.508-2A>T	17.37:g.36935784T>A			Somatic				PIP4K2B_ENST00000311500.6_Splice_Site		NM_003559.4	NP_003550.1	WXS	Illumina GAIIx	Phase_I	P78356	PI42B_HUMAN			5	988	-								Q5U0E8|Q8TBP2	Splice_Site	SNP	ENST00000269554.3	37		CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713710	0.48517	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9639	0.64196	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP4K2B	34189310	1.000000	0.71417	0.979000	0.43373	0.429000	0.31625	7.522000	0.81844	2.168000	0.68352	0.533000	0.62120	.		0.532	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	Intron	5	242	0	0	0	1	0	5	242				
DPY19L4	286148	broad.mit.edu	37	8	95751944	95751944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:95751944A>T	ENST00000414645.2	+	6	636	c.537A>T	c.(535-537)ttA>ttT	p.L179F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	179						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTACTGCTTTATTTGTTACAA	0.348																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(535-537)ttA>ttT		dpy-19-like 4 (C. elegans)							239.0	230.0	233.0					8																	95751944		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95751944A>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.537A>T	8.37:g.95751944A>T	ENSP00000389630:p.Leu179Phe		Somatic					p.L179F	NM_181787.2	NP_861452.2	WXS	Illumina GAIIx	Phase_I	Q7Z388	D19L4_HUMAN			6	636	+	Breast(36;3.85e-06)		179					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.537A>T	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.07|16.07	3.017988|3.017988	0.54576|0.54576	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000519353;ENST00000523020|ENST00000522422;ENST00000414645;ENST00000519176;ENST00000521525	.|T;T;T;T	.|0.64085	.|-0.08;-0.08;-0.08;-0.08	5.98|5.98	-0.0805|-0.0805	0.13706|0.13706	.|.	.|0.150338	.|0.43747	.|N	.|0.000525	T|T	0.72526|0.72526	0.3471|0.3471	M|M	0.72118|0.72118	2.19|2.19	0.53005|0.53005	D|D	0.999968|0.999968	.|P;D	.|0.89917	.|0.89;1.0	.|P;D	.|0.91635	.|0.691;0.999	T|T	0.69658|0.69658	-0.5086|-0.5086	5|10	.|0.41790	.|T	.|0.15	-11.3288|-11.3288	9.7753|9.7753	0.40614|0.40614	0.4039:0.0:0.5961:0.0|0.4039:0.0:0.5961:0.0	.|.	.|107;179	.|E5RGB7;Q7Z388	.|.;D19L4_HUMAN	F|F	111;23|107;179;150;29	.|ENSP00000428762:L107F;ENSP00000389630:L179F;ENSP00000430417:L150F;ENSP00000429559:L29F	.|ENSP00000389630:L179F	I|L	+|+	1|3	0|2	DPY19L4|DPY19L4	95821120|95821120	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	0.949000|0.949000	0.29109|0.29109	0.185000|0.185000	0.20105|0.20105	0.482000|0.482000	0.46254|0.46254	ATT|TTA		0.348	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		5	257	0	0	0	1	0	5	257				
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373325.2_Splice_Site|DHX35_ENST00000373323.4_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35						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)				TTTATTTTTTAGTTTCTTACT	0.313																																						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.e6-1		DEAH (Asp-Glu-Ala-His) box polypeptide 35							112.0	112.0	112.0					20																	37620095		2203	4300	6503	SO:0001630	splice_region_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37620095A>T	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.451-1A>T	20.37:g.37620095A>T			Somatic				DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site		NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			6	483	+		Myeloproliferative disorder(115;0.00878)						A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Splice_Site	SNP	ENST00000252011.3	37		CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028280	0.75390	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	.	.	.	5.95	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9984	0.47591	0.9261:0.0:0.0739:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX35	37053509	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.751000	0.85126	1.066000	0.40716	0.460000	0.39030	.		0.313	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Intron	4	142	0	0	0	1	0	4	142				
ECT2L	345930	broad.mit.edu	37	6	139175195	139175195	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:139175195C>A	ENST00000423192.1	+	9	1263	c.1102C>A	c.(1102-1104)Cct>Act	p.P368T	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T|ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	368							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTTACTGAGGCCTGAAGTGAG	0.393			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1102-1104)Cct>Act		epithelial cell transforming sequence 2 oncogene-like							156.0	155.0	155.0					6																	139175195		1821	4070	5891	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139175195C>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1102C>A	6.37:g.139175195C>A	ENSP00000387388:p.Pro368Thr		Somatic				ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T	p.P368T			WXS	Illumina GAIIx	Phase_I	Q008S8	ECT2L_HUMAN			9	1263	+			368					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1102C>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942339	0.73672	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79141	-0.17;-0.17;-1.24	5.65	4.73	0.59995	.	0.477352	0.13955	U	0.351226	T	0.80470	0.4629	M	0.72894	2.215	0.32819	D	0.502488	D;D	0.57257	0.979;0.964	P;P	0.56563	0.801;0.638	T	0.80238	-0.1465	10	0.87932	D	0	0.7979	13.3122	0.60386	0.0:0.8412:0.1588:0.0	.	299;368	F5H7S9;Q008S8	.;ECT2L_HUMAN	T	368;368;299	ENSP00000387388:P368T;ENSP00000356655:P368T;ENSP00000442307:P299T	ENSP00000356655:P368T	P	+	1	0	ECT2L	139216888	0.970000	0.33590	0.995000	0.50966	0.983000	0.72400	2.289000	0.43523	2.674000	0.91012	0.655000	0.94253	CCT		0.393	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		4	430	1	0	0.014758	1	0.0149034	4	430				
DMXL1	1657	broad.mit.edu	37	5	118532064	118532064	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:118532064A>T	ENST00000311085.8	+	31	7537		c.e31-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTATTTTTAGTTGGTCCTT	0.388																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.e31-1		Dmx-like 1							204.0	189.0	194.0					5																	118532064		2202	4300	6502	SO:0001630	splice_region_variant	1657							g.chr5:118532064A>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7458-1A>T	5.37:g.118532064A>T			Somatic				DMXL1_ENST00000539542.1_Splice_Site		NM_005509.4	NP_005500.4	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	31	7537	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)							Splice_Site	SNP	ENST00000311085.8	37		CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106784	0.77096	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1512	0.72700	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMXL1	118559963	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	8.345000	0.90057	2.068000	0.61886	0.383000	0.25322	.		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	Intron	8	401	0	0	0	1	0	8	401				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396429.1_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_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_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	11	211	0	0	0	1	0	11	211				
MTHFR	4524	broad.mit.edu	37	1	11861228	11861228	+	Silent	SNP	C	C	T	rs566125423	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:11861228C>T	ENST00000376592.1	-	2	593	c.465G>A	c.(463-465)gcG>gcA	p.A155A	MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	155					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTCCCCGCAGCGCCATGATGT	0.587																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(463-465)gcG>gcA		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						91.0	91.0	91.0					1																	11861228		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11861228C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.465G>A	1.37:g.11861228C>T			Somatic				MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A	p.A155A			WXS	Illumina GAIIx	Phase_I	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	2	593	-	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	155					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.465G>A	CCDS137.1																																																																																				0.587	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		3	107	0	0	0	1	0	3	107				
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T	rs565938595	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455T|SLC22A6_ENST00000421062.2_Splice_Site_p.A455T|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACAGTGACAGCGCTGGCGGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15785	0.0		0.0	False		,,,				2504	0.0					ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1495-1497)Gct>Act		solute carrier family 22 (organic anion transporter), member 6							75.0	71.0	72.0					11																	62744726		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744726C>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1495G>A	11.37:g.62744726C>T	ENSP00000367102:p.Ala499Thr		Somatic				SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T	p.A499T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	WXS	Illumina GAIIx	Phase_I	Q4U2R8	S22A6_HUMAN			9	1761	-			499					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1495G>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325294	0.10900	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.73258	-0.73;-0.73;0.09;0.09	4.48	1.62	0.23740	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.508642	0.22012	N	0.065853	T	0.64338	0.2589	M	0.73430	2.235	0.09310	N	1	B;B;B;B	0.21688	0.021;0.012;0.059;0.027	B;B;B;B	0.16289	0.014;0.009;0.015;0.009	T	0.52480	-0.8570	10	0.28530	T	0.3	.	7.7515	0.28901	0.0:0.7191:0.0:0.2809	.	455;455;499;499	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	T	499;478;499;455;455	ENSP00000353597:A499T;ENSP00000367102:A499T;ENSP00000396401:A455T;ENSP00000404441:A455T	ENSP00000353597:A499T	A	-	1	0	SLC22A6	62501302	0.000000	0.05858	0.029000	0.17559	0.168000	0.22595	-0.191000	0.09601	0.163000	0.19507	-0.258000	0.10820	GCT		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		45	69	0	0	0	1	0	45	69				
OCRL	4952	broad.mit.edu	37	X	128723865	128723865	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:128723865A>T	ENST00000371113.4	+	23	2678	c.2513A>T	c.(2512-2514)tAc>tTc	p.Y838F	OCRL_ENST00000357121.5_Missense_Mutation_p.Y830F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	838	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTTTTCCGTTACTTGATGGCA	0.428																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2512-2514)tAc>tTc		oculocerebrorenal syndrome of Lowe							132.0	117.0	122.0					X																	128723865		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128723865A>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2513A>T	X.37:g.128723865A>T	ENSP00000360154:p.Tyr838Phe		Somatic				OCRL_ENST00000357121.5_Missense_Mutation_p.Y830F	p.Y838F	NM_000276.3	NP_000267.2	WXS	Illumina GAIIx	Phase_I	Q01968	OCRL_HUMAN			23	2678	+			838			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2513A>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907427	0.92107	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.20069	2.1;2.1	5.65	5.65	0.86999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.915;0.996	T	0.56751	-0.7927	10	0.87932	D	0	.	13.9753	0.64268	1.0:0.0:0.0:0.0	.	830;838	Q01968-2;Q01968	.;OCRL_HUMAN	F	838;830	ENSP00000360154:Y838F;ENSP00000349635:Y830F	ENSP00000349635:Y830F	Y	+	2	0	OCRL	128551546	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.119000	0.89579	1.897000	0.54924	0.486000	0.48141	TAC		0.428	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		6	371	0	0	0	1	0	6	371				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.e4-1		zinc finger, matrin-type 2							166.0	152.0	157.0					5																	140083501		2203	4300	6503	SO:0001630	splice_region_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140083501A>T	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.237-1A>T	5.37:g.140083501A>T			Somatic						NM_144723.1	NP_653324.1	WXS	Illumina GAIIx	Phase_I	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	363	+									Splice_Site	SNP	ENST00000274712.3	37		CCDS4239.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787461	0.90367	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0025	0.80306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMAT2	140063685	1.000000	0.71417	0.698000	0.30274	0.851000	0.48451	8.932000	0.92897	2.237000	0.73441	0.459000	0.35465	.		0.368	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	Intron	8	680	0	0	0	1	0	8	680				
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(730-732)agC>agA		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							57.0	53.0	54.0					11																	45671742		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671742G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.732C>A	11.37:g.45671742G>T	ENSP00000309270:p.Ser244Arg		Somatic					p.S244R	NM_003654.5	NP_003645.1	WXS	Illumina GAIIx	Phase_I	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1402	-			244					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.732C>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410234	0.42715	.	.	ENSG00000175264	ENST00000308064	D	0.82619	-1.63	4.98	2.06	0.26882	Sulfotransferase domain (1);	0.147583	0.64402	D	0.000011	T	0.71787	0.3381	N	0.19112	0.55	0.40176	D	0.977238	P	0.47910	0.902	P	0.47402	0.546	T	0.63941	-0.6523	10	0.15952	T	0.53	-8.5739	8.7652	0.34698	0.4721:0.0:0.5279:0.0	.	244	O43916	CHST1_HUMAN	R	244	ENSP00000309270:S244R	ENSP00000309270:S244R	S	-	3	2	CHST1	45628318	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.708000	0.25719	0.147000	0.19030	0.462000	0.41574	AGC		0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		5	175	1	0	0.00198382	1	0.00203341	5	175				
DMXL1	1657	broad.mit.edu	37	5	118525401	118525401	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:118525401A>T	ENST00000311085.8	+	29	7215		c.e29-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTTTTGTTAGTTTCTTCAC	0.368																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.e29-1		Dmx-like 1							51.0	54.0	53.0					5																	118525401		2202	4300	6502	SO:0001630	splice_region_variant	1657							g.chr5:118525401A>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7136-1A>T	5.37:g.118525401A>T			Somatic				DMXL1_ENST00000539542.1_Splice_Site		NM_005509.4	NP_005500.4	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7215	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)							Splice_Site	SNP	ENST00000311085.8	37		CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936854	0.73557	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.96	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2319	0.54492	0.8523:0.1477:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMXL1	118553300	1.000000	0.71417	0.970000	0.41538	0.958000	0.62258	1.444000	0.35068	1.064000	0.40671	0.528000	0.53228	.		0.368	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	Intron	11	152	0	0	0	1	0	11	152				
FRG1B	284802	broad.mit.edu	37	20	29628301	29628301	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:29628301T>A	ENST00000278882.3	+	6	683	c.303T>A	c.(301-303)agT>agA	p.S101R	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101R|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGCAAAAAGTAAAACAGCAG	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)agT>agA																																						SO:0001583	missense	284802							g.chr20:29628301T>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.303T>A	20.37:g.29628301T>A	ENSP00000278882:p.Ser101Arg		Somatic				FRG1B_ENST00000439954.2_Missense_Mutation_p.S106R|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101R	p.S101R			WXS	Illumina GAIIx	Phase_I					6	683	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.303T>A		.	.	.	.	.	.	.	.	.	.	t	10.64	1.406027	0.25378	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	0.931	0.19460	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.30665	0.0772	.	.	.	0.38521	D	0.948737	B;B	0.20164	0.006;0.042	B;B	0.22152	0.018;0.038	T	0.06881	-1.0802	9	0.33940	T	0.23	.	5.4518	0.16568	0.0:0.1614:0.0:0.8386	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	R	101;106;101	ENSP00000408863:S106R	ENSP00000278882:S101R	S	+	3	2	FRG1B	28241962	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.720000	0.38022	0.245000	0.21373	0.347000	0.21830	AGT		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	165	0	0	0	1	0	6	165				
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T	rs200616857		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(763-765)Atg>Ttg		olfactory receptor, family 4, subfamily A, member 47							213.0	206.0	208.0					11																	48511107		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511107A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.763A>T	11.37:g.48511107A>T	ENSP00000412752:p.Met255Leu		Somatic					p.M255L	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	839	+			255						Missense_Mutation	SNP	ENST00000446524.1	37	c.763A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	2.307	-0.358736	0.05138	.	.	ENSG00000237388	ENST00000446524	T	0.00115	8.71	4.59	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.173909	0.40728	N	0.001040	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.04216	-1.0968	10	0.17369	T	0.5	.	8.5275	0.33313	0.9019:0.0:0.0981:0.0	.	255	Q6IF82	O4A47_HUMAN	L	255	ENSP00000412752:M255L	ENSP00000412752:M255L	M	+	1	0	OR4A47	48467683	0.000000	0.05858	0.998000	0.56505	0.282000	0.26991	0.172000	0.16704	1.692000	0.51112	0.172000	0.16884	ATG		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		8	1127	0	0	0	1	0	8	1127				
OR5AU1	390445	broad.mit.edu	37	14	21623380	21623380	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:21623380A>G	ENST00000304418.3	-	1	842	c.805T>C	c.(805-807)Tac>Cac	p.Y269H		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATTAAGAAGTAGGAGATCAAG	0.488																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(805-807)Tac>Cac		olfactory receptor, family 5, subfamily AU, member 1							114.0	96.0	102.0					14																	21623380		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623380A>G	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.805T>C	14.37:g.21623380A>G	ENSP00000302057:p.Tyr269His		Somatic					p.Y269H	NM_001004731.1	NP_001004731.1	WXS	Illumina GAIIx	Phase_I	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	842	-	all_cancers(95;0.00238)		269					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.805T>C	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050421	0.36181	.	.	ENSG00000169327	ENST00000304418	T	0.00515	6.87	4.48	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02342	0.0072	H	0.97783	4.075	0.43988	D	0.99668	P	0.37083	0.581	P	0.51453	0.67	T	0.00072	-1.2129	9	0.87932	D	0	.	8.2794	0.31892	0.9043:0.0:0.0957:0.0	.	269	Q8NGC0	O5AU1_HUMAN	H	269	ENSP00000302057:Y269H	ENSP00000302057:Y269H	Y	-	1	0	OR5AU1	20693220	1.000000	0.71417	0.994000	0.49952	0.166000	0.22503	6.348000	0.73009	0.752000	0.32923	-0.589000	0.04120	TAC		0.488	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			4	75	0	0	0	1	0	4	75				
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A	rs587687865		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106110141G>A	ENST00000390545.2	-	0	476							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m 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)										CCTCCACGCCGTCCACGTACC	0.617													N|||	1	0.000199681	0.0	0.0014	5008	,	,		22764	0.0		0.0	False		,,,				2504	0.0					ENST00000390545.2																			0																				201.0	179.0	186.0					14																	106110141		2178	4269	6447			3501							g.chr14:106110141G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110141G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	476	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.617	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		504	789	0	0	0	1	0	504	789				
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:9071105C>T	ENST00000397910.4	-	3	16544	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5449	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						GTGTGGCTTTCGATGTCTCTG	0.493																																						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.(16339-16341)tcG>tcA		mucin 16, cell surface associated							216.0	208.0	211.0					19																	9071105		2086	4209	6295	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071105C>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.16341G>A	19.37:g.9071105C>T			Somatic					p.S5447S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	16544	-			5449			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.16341G>A	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	1008	0	0	0	1	0	8	1008				
LRP1	4035	broad.mit.edu	37	12	57572306	57572306	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:57572306G>A	ENST00000243077.3	+	27	4992	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1509					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)	AAGTGGACCGGCCACAATGTC	0.622																																						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.(4525-4527)gGc>gAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						104.0	99.0	101.0					12																	57572306		2203	4300	6503	SO:0001583	missense	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.chr12:57572306G>A	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.4526G>A	12.37:g.57572306G>A	ENSP00000243077:p.Gly1509Asp		Somatic					p.G1509D	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4992	+			1509					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4526G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293193	0.80914	.	.	ENSG00000123384	ENST00000243077	D	0.94862	-3.54	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97651	0.9230	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98113	1.0421	10	0.56958	D	0.05	.	16.7965	0.85603	0.0:0.0:1.0:0.0	.	1509	Q07954	LRP1_HUMAN	D	1509	ENSP00000243077:G1509D	ENSP00000243077:G1509D	G	+	2	0	LRP1	55858573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	GGC		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	264	0	0	0	1	0	4	264				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe		Somatic					p.L31F	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		5	261	0	0	0	1	0	5	261				
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483																																						ENST00000379445.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(115-117)Att>Ttt		cortexin 3							158.0	140.0	146.0					5																	126993328		2203	4300	6503	SO:0001583	missense	613212					integral to membrane		g.chr5:126993328A>T	AB219764	CCDS34221.1	5q23.2	2006-09-21				ENSG00000205279			31110	protein-coding gene	gene with protein product							Standard	NM_001048252		Approved		uc003kum.4	Q4LDR2		ENST00000379445.3:c.115A>T	5.37:g.126993328A>T	ENSP00000368758:p.Ile39Phe		Somatic				CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F	p.I39F	NM_001048252.2	NP_001041717.1	WXS	Illumina GAIIx	Phase_I	Q4LDR2	CTXN3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)	3	666	+		Prostate(80;0.165)	39					B2RV32|D3DQ82	Missense_Mutation	SNP	ENST00000379445.3	37	c.115A>T	CCDS34221.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874223	0.72180	.	.	ENSG00000205279	ENST00000379445;ENST00000395322	T;T	0.36157	1.27;1.27	4.52	4.52	0.55395	.	0.112509	0.64402	D	0.000008	T	0.54759	0.1878	.	.	.	0.54753	D	0.999989	D	0.56521	0.976	P	0.59357	0.856	T	0.60419	-0.7267	9	0.72032	D	0.01	-5.1792	14.5686	0.68197	1.0:0.0:0.0:0.0	.	39	Q4LDR2	CTXN3_HUMAN	F	39	ENSP00000368758:I39F;ENSP00000378732:I39F	ENSP00000368758:I39F	I	+	1	0	CTXN3	127021227	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	2.608000	0.46308	2.254000	0.74563	0.533000	0.62120	ATT		0.483	CTXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372467.1	XM_932841		7	260	0	0	0	1	0	7	260				
ZCRB1	85437	broad.mit.edu	37	12	42711251	42711251	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:42711251T>A	ENST00000266529.3	-	5	409		c.e5-2		ZCRB1_ENST00000552673.1_Splice_Site|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		ACCAAATAACTAAACAAGAGA	0.294																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.e5-2		zinc finger CCHC-type and RNA binding motif 1							52.0	49.0	50.0					12																	42711251		2203	4299	6502	SO:0001630	splice_region_variant	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42711251T>A	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.226-2A>T	12.37:g.42711251T>A			Somatic				PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Splice_Site		NM_033114.3	NP_149105.3	WXS	Illumina GAIIx	Phase_I	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	5	409	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)						Q6PJX0|Q96TA6	Splice_Site	SNP	ENST00000266529.3	37		CCDS8740.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412785	0.83340	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8228	0.78673	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCRB1	40997518	1.000000	0.71417	0.945000	0.38365	0.979000	0.70002	7.446000	0.80609	2.146000	0.66826	0.528000	0.53228	.		0.294	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114	Intron	6	77	0	0	0	1	0	6	77				
COX10	1352	broad.mit.edu	37	17	14005509	14005509	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:14005509A>T	ENST00000261643.3	+	4	651	c.574A>T	c.(574-576)Act>Tct	p.T192S	COX10_ENST00000536205.1_Intron|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	192					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTTCCTGCTTACTTCTGTTGG	0.473																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(574-576)Act>Tct		cytochrome c oxidase assembly homolog 10 (yeast)							173.0	152.0	159.0					17																	14005509		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14005509A>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.574A>T	17.37:g.14005509A>T	ENSP00000261643:p.Thr192Ser		Somatic				COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	p.T192S	NM_001303.3	NP_001294.2	WXS	Illumina GAIIx	Phase_I	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	4	651	+		all_lung(20;0.06)|Lung SC(565;0.168)	192					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.574A>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	A	9.775	1.173783	0.21704	.	.	ENSG00000006695	ENST00000261643	D	0.92299	-3.01	5.26	0.0365	0.14192	.	0.319666	0.32952	N	0.005442	D	0.85465	0.5703	L	0.43923	1.385	0.80722	D	1	B	0.22541	0.071	B	0.25759	0.063	T	0.72364	-0.4316	10	0.17832	T	0.49	-20.9255	8.654	0.34051	0.3813:0.0:0.6187:0.0	.	192	Q12887	COX10_HUMAN	S	192	ENSP00000261643:T192S	ENSP00000261643:T192S	T	+	1	0	COX10	13946234	0.995000	0.38212	0.022000	0.16811	0.646000	0.38490	2.775000	0.47702	0.089000	0.17243	-1.119000	0.02030	ACT		0.473	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		7	327	0	0	0	1	0	7	327				
CWH43	80157	broad.mit.edu	37	4	49019264	49019264	+	Splice_Site	SNP	A	A	T	rs201595459		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:49019264A>T	ENST00000226432.4	+	9	1369		c.e9-1		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTTCTGTTTAGTTCTGTGGC	0.378																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.e9-1		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							80.0	79.0	79.0					4																	49019264		2203	4300	6503	SO:0001630	splice_region_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49019264A>T		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1187-1A>T	4.37:g.49019264A>T			Somatic				CWH43_ENST00000513409.1_Splice_Site		NM_025087.2	NP_079363.2	WXS	Illumina GAIIx	Phase_I	Q9H720	PG2IP_HUMAN			9	1369	+								B2RPD7	Splice_Site	SNP	ENST00000226432.4	37		CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895392	0.52121	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.434	0.55588	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CWH43	48714021	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.030000	0.64128	2.012000	0.59069	0.477000	0.44152	.		0.378	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	Intron	3	46	0	0	0	1	0	3	46				
GLRB	2743	broad.mit.edu	37	4	158059959	158059959	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:158059959A>T	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|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)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTTTGTTTATAGTTGGTTACA	0.259																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.e7-1		glycine receptor, beta	Glycine(DB00145)						54.0	58.0	57.0					4																	158059959		2202	4294	6496	SO:0001630	splice_region_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158059959A>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.611-1A>T	4.37:g.158059959A>T			Somatic				GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site		NM_000824.4	NP_000815.1	WXS	Illumina GAIIx	Phase_I	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	7	880	+	all_hematologic(180;0.24)	Renal(120;0.0458)						A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	ENST00000264428.4	37		CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993392	0.54041	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5984	0.76606	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRB	158279409	1.000000	0.71417	0.984000	0.44739	0.513000	0.34164	9.246000	0.95438	2.090000	0.63153	0.528000	0.53228	.		0.259	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	Intron	3	21	0	0	0	1	0	3	21				
FAT3	120114	broad.mit.edu	37	11	92532309	92532309	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:92532309C>T	ENST00000298047.6	+	9	6147	c.6130C>T	c.(6130-6132)Cgt>Tgt	p.R2044C	FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2044	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCTTTGACCGTGAAGAACA	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6130-6132)Cgt>Tgt		FAT atypical cadherin 3							55.0	57.0	56.0					11																	92532309		1910	4128	6038	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532309C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6130C>T	11.37:g.92532309C>T	ENSP00000298047:p.Arg2044Cys	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C	p.R2044C			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			9	6147	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2044			Cadherin 18.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6130C>T		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726550	0.48833	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01787	4.64;4.64;4.64	5.71	4.74	0.60224	.	.	.	.	.	T	0.16257	0.0391	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01027	-1.1476	9	0.87932	D	0	.	14.163	0.65459	0.2545:0.7455:0.0:0.0	.	2044	Q8TDW7-3	.	C	2044;2044;1894	ENSP00000298047:R2044C;ENSP00000387040:R2044C;ENSP00000432586:R1894C	ENSP00000298047:R2044C	R	+	1	0	FAT3	92171957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.632000	0.37102	2.700000	0.92200	0.655000	0.94253	CGT		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	95	0	0	0	1	0	3	95				
PSMD2	5708	broad.mit.edu	37	3	184020156	184020156	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:184020156A>T	ENST00000310118.4	+	6	1262		c.e6-1		EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Splice_Site|PSMD2_ENST00000439383.1_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				EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site|PSMD2_ENST00000435761.1_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	4	93	0	0	0	1	0	4	93				
MUC16	94025	broad.mit.edu	37	19	9089442	9089442	+	Silent	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:9089442A>G	ENST00000397910.4	-	1	2576	c.2373T>C	c.(2371-2373)ccT>ccC	p.P791P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	791	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						GATGAGTCAGAGGGGAAGTTG	0.502																																						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.(2371-2373)ccT>ccC		mucin 16, cell surface associated							226.0	215.0	219.0					19																	9089442		2017	4193	6210	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089442A>G	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.2373T>C	19.37:g.9089442A>G			Somatic					p.P791P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	2576	-			791			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2373T>C	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	1611	0	0	0	1	0	34	1611				
WDR75	84128	broad.mit.edu	37	2	190334800	190334800	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:190334800A>T	ENST00000314761.4	+	17	1879		c.e17-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTTCCCTCTAGTGTTTGTAT	0.428																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.e17-1		WD repeat domain 75							142.0	148.0	146.0					2																	190334800		2203	4300	6503	SO:0001630	splice_region_variant	84128					nucleolus		g.chr2:190334800A>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1820-1A>T	2.37:g.190334800A>T			Somatic						NM_032168.1	NP_115544.1	WXS	Illumina GAIIx	Phase_I	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		17	1879	+								Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Splice_Site	SNP	ENST00000314761.4	37		CCDS2298.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.549188	0.86127	.	.	ENSG00000115368	ENST00000314761	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR75	190043045	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.767000	0.91732	2.285000	0.76669	0.477000	0.44152	.		0.428	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	Intron	6	340	0	0	0	1	0	6	340				
OR2A25	392138	broad.mit.edu	37	7	143771625	143771625	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:143771625A>T	ENST00000408898.2	+	1	351	c.313A>T	c.(313-315)Agt>Tgt	p.S105C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	105						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)					TCTGTTTTTGAGTTTTGCACA	0.527																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(313-315)Agt>Tgt		olfactory receptor, family 2, subfamily A, member 25							89.0	96.0	94.0					7																	143771625		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771625A>T		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.313A>T	7.37:g.143771625A>T	ENSP00000386167:p.Ser105Cys		Somatic					p.S105C	NM_001004488.1	NP_001004488.1	WXS	Illumina GAIIx	Phase_I	A4D2G3	O2A25_HUMAN			1	351	+	Melanoma(164;0.0783)		105					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.313A>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563068	0.27915	.	.	ENSG00000221933	ENST00000408898	D	0.82619	-1.63	4.88	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75391	0.3843	L	0.41961	1.31	0.09310	N	1	P	0.39903	0.694	B	0.41036	0.346	T	0.66019	-0.6027	9	0.59425	D	0.04	-1.7701	3.2662	0.06865	0.643:0.0:0.1859:0.1711	.	105	A4D2G3	O2A25_HUMAN	C	105	ENSP00000386167:S105C	ENSP00000386167:S105C	S	+	1	0	OR2A25	143402558	0.001000	0.12720	0.279000	0.24732	0.521000	0.34408	0.624000	0.24462	0.364000	0.24374	0.460000	0.39030	AGT		0.527	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			8	426	0	0	0	1	0	8	426				
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T	rs371619496		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2191-2193)gGt>gAt		SPHK1 interactor, AKAP domain containing		C	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	166.0	151.0	156.0		2192,2192	4.7	0.0	2		156	0,8600		0,0,4300	no	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	94,94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	731/1701,731/1672	228883378	1,13005	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883378C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2192G>A	2.37:g.228883378C>T	ENSP00000375909:p.Gly731Asp		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	p.G731D	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2238	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	731					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2192G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	2.27E-4	0.0	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	5.61	4.73	0.59995	.	0.384553	0.31897	N	0.006889	T	0.16854	0.0405	M	0.61703	1.905	0.09310	N	1	P;B	0.49635	0.926;0.441	P;B	0.44597	0.454;0.185	T	0.13229	-1.0517	10	0.25751	T	0.34	.	10.4997	0.44798	0.0:0.8349:0.0:0.1651	.	731;731	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	731	ENSP00000375909:G731D;ENSP00000339886:G731D	ENSP00000339886:G731D	G	-	2	0	SPHKAP	228591622	0.001000	0.12720	0.004000	0.12327	0.072000	0.16883	1.500000	0.35682	1.506000	0.48736	0.655000	0.94253	GGT		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		6	255	0	0	0	1	0	6	255				
ELL2	22936	broad.mit.edu	37	5	95242265	95242265	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:95242265G>T	ENST00000237853.4	-	5	1052	c.703C>A	c.(703-705)Caa>Aaa	p.Q235K	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	235					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTGTCTTTTTGATTGACACCA	0.468																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(703-705)Caa>Aaa		elongation factor, RNA polymerase II, 2							105.0	110.0	109.0					5																	95242265		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95242265G>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.703C>A	5.37:g.95242265G>T	ENSP00000237853:p.Gln235Lys		Somatic				ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	p.Q235K	NM_012081.5	NP_036213.2	WXS	Illumina GAIIx	Phase_I	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	5	1052	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	235					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.703C>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935352	0.73442	.	.	ENSG00000118985	ENST00000237853	T	0.27720	1.65	6.08	6.08	0.98989	.	0.156940	0.64402	D	0.000018	T	0.36908	0.0984	L	0.47190	1.495	0.80722	D	1	P	0.43231	0.801	B	0.43990	0.438	T	0.01371	-1.1372	10	0.35671	T	0.21	0.2173	20.2672	0.98462	0.0:0.0:1.0:0.0	.	235	O00472	ELL2_HUMAN	K	235	ENSP00000237853:Q235K	ENSP00000237853:Q235K	Q	-	1	0	ELL2	95268021	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	CAA		0.468	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		5	185	1	0	4.096e-09	1	4.35067e-09	5	185				
PCLO	27445	broad.mit.edu	37	7	82582703	82582703	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:82582703A>T	ENST00000333891.9	-	5	7903	c.7566T>A	c.(7564-7566)acT>acA	p.T2522T	PCLO_ENST00000423517.2_Silent_p.T2522T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTTGTGTAGTTGTTGGAA	0.423																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(7564-7566)acT>acA		piccolo presynaptic cytomatrix protein							113.0	109.0	111.0					7																	82582703		1932	4134	6066	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582703A>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7566T>A	7.37:g.82582703A>T			Somatic				PCLO_ENST00000333891.8_Silent_p.T2522T	p.T2522T	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			5	7903	-			2453						Silent	SNP	ENST00000333891.9	37	c.7566T>A	CCDS47630.1																																																																																				0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	216	0	0	0	1	0	6	216				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			6	406	0	0	0	1	0	6	406				
MYBPC1	4604	broad.mit.edu	37	12	102045089	102045089	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:102045089T>C	ENST00000550270.1	+	14	1369	c.1369T>C	c.(1369-1371)Tct>Cct	p.S457P	MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000549145.1_Missense_Mutation_p.S470P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	457	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTGTGAAATCTCTGAAAACAT	0.428																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(1408-1410)Tct>Cct		myosin binding protein C, slow type							153.0	157.0	156.0					12																	102045089		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102045089T>C		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1369T>C	12.37:g.102045089T>C	ENSP00000449702:p.Ser457Pro		Somatic				MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000550501.1_Intron	p.S470P			WXS	Illumina GAIIx	Phase_I	Q00872	MYPC1_HUMAN			15	1508	+			457			Ig-like C2-type 4.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1408T>C	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584187	0.65992	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.131885	0.34700	N	0.003742	T	0.72020	0.3409	N	0.21448	0.665	0.48830	D	0.999718	D;B;B;B;B;D;B;B;D;B;B	0.76494	0.999;0.01;0.005;0.027;0.01;0.996;0.008;0.027;0.999;0.022;0.022	D;B;B;B;B;D;B;B;D;B;B	0.77557	0.99;0.021;0.034;0.021;0.028;0.982;0.012;0.028;0.989;0.016;0.028	T	0.76482	-0.2943	10	0.87932	D	0	.	15.6797	0.77357	0.0:0.0:0.0:1.0	.	438;445;457;457;444;431;457;457;482;482;470	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	P	431;457;457;457;444;443;482;470;457;482;457;438;445;482;358;457	ENSP00000448175:S431P;ENSP00000400908:S457P;ENSP00000388989:S457P;ENSP00000353822:S457P;ENSP00000376665:S444P;ENSP00000447362:S443P;ENSP00000354845:S482P;ENSP00000447660:S470P;ENSP00000447900:S457P;ENSP00000440034:S457P;ENSP00000446128:S438P;ENSP00000442847:S445P;ENSP00000354849:S482P;ENSP00000447116:S358P;ENSP00000449702:S457P	ENSP00000353822:S457P	S	+	1	0	MYBPC1	100569220	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.512000	0.81728	2.106000	0.64143	0.533000	0.62120	TCT		0.428	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			10	395	0	0	0	1	0	10	395				
WNT8A	7478	broad.mit.edu	37	5	137426757	137426757	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:137426757G>T	ENST00000398754.1	+	6	1056	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	WNT8A_ENST00000506684.1_Missense_Mutation_p.A369S	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	351					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAAGGGCAGTGCCTGATAATA	0.502																																						ENST00000506684.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.(1105-1107)Gcc>Tcc		wingless-type MMTV integration site family, member 8A							78.0	72.0	74.0					5																	137426757		1969	4158	6127	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137426757G>T	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.1051G>T	5.37:g.137426757G>T	ENSP00000381739:p.Ala351Ser		Somatic				WNT8A_ENST00000398754.1_Missense_Mutation_p.A351S	p.A369S			WXS	Illumina GAIIx	Phase_I	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	1341	+			351					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.1105G>T	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	1.640	-0.516719	0.04200	.	.	ENSG00000061492	ENST00000506684;ENST00000398754	T;T	0.75260	-0.84;-0.92	4.31	-1.78	0.07957	.	.	.	.	.	T	0.46347	0.1388	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.12156	0.007;0.001	T	0.25363	-1.0134	9	0.35671	T	0.21	.	1.2464	0.01973	0.2638:0.1652:0.4048:0.1662	.	369;351	D6RF47;Q9H1J5	.;WNT8A_HUMAN	S	369;351	ENSP00000426653:A369S;ENSP00000381739:A351S	ENSP00000381739:A351S	A	+	1	0	WNT8A	137454656	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.023000	0.12456	-0.126000	0.11682	0.455000	0.32223	GCC		0.502	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		12	399	1	0	0.00136819	1	0.00140945	12	399				
STON2	85439	broad.mit.edu	37	14	81743834	81743834	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:81743834C>A	ENST00000267540.2	-	4	2021	c.1821G>T	c.(1819-1821)ggG>ggT	p.G607G	STON2_ENST00000555447.1_Silent_p.G607G|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	607	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTCTGCGAGCCCAGACAGGA	0.507																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1819-1821)ggG>ggT		stonin 2							78.0	74.0	75.0					14																	81743834		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743834C>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1821G>T	14.37:g.81743834C>A			Somatic				STON2_ENST00000267540.2_Silent_p.G607G	p.G607G	NM_001256430.1	NP_001243359.1	WXS	Illumina GAIIx	Phase_I	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2233	-			607			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1821G>T	CCDS9875.1																																																																																				0.507	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		16	157	1	0	5.3912e-06	1	5.63876e-06	16	157				
ATP1A2	477	broad.mit.edu	37	1	160091024	160091024	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:160091024C>A	ENST00000361216.3	+	3	249	c.160C>A	c.(160-162)Caa>Aaa	p.Q54K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	54					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)			CCGCAAATACCAAGTGGACCT	0.517																																						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.(160-162)Caa>Aaa		ATPase, Na+/K+ transporting, alpha 2 polypeptide							183.0	184.0	184.0					1																	160091024		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160091024C>A	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.160C>A	1.37:g.160091024C>A	ENSP00000354490:p.Gln54Lys		Somatic				ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K	p.Q54K	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)		3	249	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		54					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.160C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413271	0.42817	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.77620	-1.11;-1.11	4.56	4.56	0.56223	ATPase, P-type cation-transporter, N-terminal (2);	0.347566	0.26366	N	0.024794	T	0.46600	0.1401	N	0.20574	0.59	0.33695	D	0.613866	B	0.02656	0.0	B	0.06405	0.002	T	0.34775	-0.9815	10	0.23302	T	0.38	.	12.1703	0.54155	0.0:0.827:0.1729:0.0	.	54	P50993	AT1A2_HUMAN	K	54	ENSP00000354490:Q54K;ENSP00000376066:Q54K	ENSP00000354490:Q54K	Q	+	1	0	ATP1A2	158357648	0.910000	0.30920	1.000000	0.80357	0.996000	0.88848	1.867000	0.39499	2.363000	0.80096	0.655000	0.94253	CAA		0.517	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		9	515	1	0	3.86212e-05	1	3.99866e-05	9	515				
WFDC8	90199	broad.mit.edu	37	20	44181861	44181861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:44181861G>A	ENST00000357199.4	-	5	578	c.500C>T	c.(499-501)cCt>cTt	p.P167L	WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	167	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTGACATGAAGGTGGACACTC	0.488																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(499-501)cCt>cTt		WAP four-disulfide core domain 8							138.0	111.0	120.0					20																	44181861		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181861G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.500C>T	20.37:g.44181861G>A	ENSP00000361735:p.Pro167Leu		Somatic				WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L	p.P167L	NM_181510.2	NP_852611.2	WXS	Illumina GAIIx	Phase_I	Q8IUA0	WFDC8_HUMAN			5	578	-		Myeloproliferative disorder(115;0.0122)	167			WAP 2.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.500C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160993	0.21538	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.72282	-0.64;-0.64	4.91	-7.34	0.01427	Whey acidic protein, 4-disulphide core (5);	3.741540	0.00481	N	0.000129	T	0.50990	0.1648	N	0.25890	0.77	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.31971	-0.9924	10	0.51188	T	0.08	.	2.1689	0.03845	0.1458:0.1939:0.1772:0.4831	.	167	Q8IUA0	WFDC8_HUMAN	L	167	ENSP00000361735:P167L;ENSP00000289953:P167L	ENSP00000289953:P167L	P	-	2	0	WFDC8	43615275	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.885000	0.04161	-1.321000	0.02281	0.655000	0.94253	CCT		0.488	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			5	614	0	0	0	1	0	5	614				
FBXL3	26224	broad.mit.edu	37	13	77581635	77581635	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:77581635G>A	ENST00000355619.5	-	5	1256	c.932C>T	c.(931-933)aCc>aTc	p.T311I	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	311					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GTACAGATGGGTGGCAGGTAT	0.408																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(931-933)aCc>aTc		F-box and leucine-rich repeat protein 3							97.0	86.0	90.0					13																	77581635		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581635G>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.932C>T	13.37:g.77581635G>A	ENSP00000347834:p.Thr311Ile		Somatic				FBXL3_ENST00000477982.1_Intron	p.T311I	NM_012158.2	NP_036290.1	WXS	Illumina GAIIx	Phase_I	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1256	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	311					B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.932C>T	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266462	0.80358	.	.	ENSG00000005812	ENST00000355619	T	0.24723	1.84	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51196	-0.8736	10	0.66056	D	0.02	-12.7746	20.5407	0.99260	0.0:0.0:1.0:0.0	.	311	Q9UKT7	FBXL3_HUMAN	I	311	ENSP00000347834:T311I	ENSP00000347834:T311I	T	-	2	0	FBXL3	76479636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	ACC		0.408	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			5	99	0	0	0	1	0	5	99				
NCKAP1L	3071	broad.mit.edu	37	12	54901678	54901678	+	Silent	SNP	G	G	A	rs200386840		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:54901678G>A	ENST00000293373.6	+	4	427	c.348G>A	c.(346-348)caG>caA	p.Q116Q	NCKAP1L_ENST00000545638.2_Silent_p.Q66Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	116					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGCCTGCCAGTGCCATTTTG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19028	0.0		0.001	False		,,,				2504	0.0					ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(346-348)caG>caA		NCK-associated protein 1-like							236.0	223.0	227.0					12																	54901678		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54901678G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.348G>A	12.37:g.54901678G>A			Somatic				NCKAP1L_ENST00000545638.2_Silent_p.Q66Q	p.Q116Q	NM_005337.4	NP_005328.2	WXS	Illumina GAIIx	Phase_I	P55160	NCKPL_HUMAN			4	427	+			116					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.348G>A	CCDS31813.1																																																																																				0.418	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		4	641	0	0	0	1	0	4	641				
MRRF	92399	broad.mit.edu	37	9	125033141	125033141	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:125033141A>T	ENST00000344641.3	+	2	283		c.e2-1		MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000394315.3_5'Flank|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373723.5_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373724.1_Intron	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TATTCTTTTTAGTGGATGTTT	0.393																																						ENST00000344641.3																			0				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						c.e2-1		mitochondrial ribosome recycling factor							87.0	94.0	92.0					9																	125033141		2203	4300	6503	SO:0001630	splice_region_variant	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125033141A>T	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.-28-1A>T	9.37:g.125033141A>T			Somatic				MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000373728.1_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373729.1_Intron		NM_138777.3	NP_620132.1	WXS	Illumina GAIIx	Phase_I	Q96E11	RRFM_HUMAN			2	283	+								A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Splice_Site	SNP	ENST00000344641.3	37		CCDS6840.1																																																																																				0.393	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777	Intron	5	280	0	0	0	1	0	5	280				
SCN8A	6334	broad.mit.edu	37	12	52159702	52159702	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:52159702G>T	ENST00000354534.6	+	16	2970	c.2792G>T	c.(2791-2793)cGa>cTa	p.R931L	SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L|SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.R931L(2)|p.R931Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTGTCTTTCGAGTGTTGTGC	0.498																																						ENST00000354534.5																			3	Substitution - Missense(3)	p.R931L(2)|p.R931Q(1)	lung(2)|large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2791-2793)cGa>cTa		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						227.0	231.0	230.0					12																	52159702		2201	4300	6501	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52159702G>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2792G>T	12.37:g.52159702G>T	ENSP00000346534:p.Arg931Leu		Somatic				SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L|SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L	p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	WXS	Illumina GAIIx	Phase_I	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	16	2970	+			931					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2792G>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047945	0.93740	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98822	-4.33;-5.16;-5.16;-5.16	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.97110	1.0;0.979;1.0	D	0.98331	1.0533	10	0.87932	D	0	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	931;931;931	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	L	931;931;931;931;844	ENSP00000448415:R931L;ENSP00000346534:R931L;ENSP00000440360:R931L;ENSP00000347255:R931L	ENSP00000346534:R931L	R	+	2	0	SCN8A	50445969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	CGA		0.498	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		6	1231	1	0	0.00909568	1	0.00923076	6	1231				
AGO4	192670	broad.mit.edu	37	1	36297167	36297167	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:36297167C>T	ENST00000373210.3	+	8	1233	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	330	PAZ. {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)										TACATACTTGCCACTCGAGGT	0.348																																						ENST00000373210.3																			0											c.(988-990)Cca>Tca		argonaute RISC catalytic component 4							97.0	100.0	99.0					1																	36297167		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36297167C>T	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.988C>T	1.37:g.36297167C>T	ENSP00000362306:p.Pro330Ser		Somatic					p.P330S	NM_017629.3	NP_060099.2	WXS	Illumina GAIIx	Phase_I					8	1233	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.988C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586219	0.86851	.	.	ENSG00000134698	ENST00000373210	T	0.21932	1.98	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	H	0.98866	4.355	0.80722	D	1	D	0.63880	0.993	D	0.79108	0.992	T	0.81904	-0.0719	10	0.87932	D	0	-10.1146	19.5182	0.95174	0.0:1.0:0.0:0.0	.	330	Q9HCK5	AGO4_HUMAN	S	330	ENSP00000362306:P330S	ENSP00000362306:P330S	P	+	1	0	EIF2C4	36069754	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCA		0.348	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		3	80	0	0	0	1	0	3	80				
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAAGCTGGAACGGCTGGATAT	0.483																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(838-840)Cgg>Agg		fibronectin leucine rich transmembrane protein 2							161.0	164.0	163.0					14																	86088696		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088696C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.838C>A	14.37:g.86088696C>A			Somatic				FLRT2_ENST00000554746.1_Silent_p.R280R	p.R280R	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1605	+			280					A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.838C>A	CCDS9877.1																																																																																				0.483	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			205	119	1	0	1.07919e-67	1	1.21557e-67	205	119				
MUC16	94025	broad.mit.edu	37	19	9065088	9065088	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:9065088C>A	ENST00000397910.4	-	3	22561	c.22358G>T	c.(22357-22359)aGc>aTc	p.S7453I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7455	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						AACTGAGGTGCTGCTCAAACT	0.478																																						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.(22357-22359)aGc>aTc		mucin 16, cell surface associated							174.0	158.0	163.0					19																	9065088		1953	4167	6120	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065088C>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.22358G>T	19.37:g.9065088C>A	ENSP00000381008:p.Ser7453Ile		Somatic					p.S7453I	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	22561	-			7455			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22358G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	5.167	0.216334	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.29655	1.56	2.98	0.73	0.18271	.	.	.	.	.	T	0.36193	0.0958	L	0.36672	1.1	.	.	.	D	0.69078	0.997	D	0.64877	0.93	T	0.43589	-0.9382	8	0.87932	D	0	.	4.5225	0.11966	0.0:0.6399:0.2272:0.133	.	7453	B5ME49	.	I	7453	ENSP00000381008:S7453I	ENSP00000381008:S7453I	S	-	2	0	MUC16	8926088	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.967000	0.01508	0.274000	0.22072	0.557000	0.71058	AGC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	716	1	0	0.184627	1	0.185532	5	716				
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597																																						ENST00000221419.5																			2	Substitution - Missense(2)	p.D390H(1)|p.D257H(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1168-1170)Gat>Cat		heterogeneous nuclear ribonucleoprotein L																																				SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330801C>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1168G>C	19.37:g.39330801C>G	ENSP00000221419:p.Asp390His		Somatic				HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C	p.D390H	NM_001533.2	NP_001524.2	WXS	Illumina GAIIx	Phase_I	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1534	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		390			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.1168G>C	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524652	0.64747	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	T	0.44881	0.91	5.72	5.72	0.89469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.042814	0.85682	D	0.000000	T	0.53562	0.1804	L	0.41492	1.28	0.80722	D	1	D;B;D	0.89917	0.985;0.093;1.0	P;B;D	0.63703	0.541;0.019;0.917	T	0.34551	-0.9824	10	0.20519	T	0.43	.	18.6604	0.91470	0.0:1.0:0.0:0.0	.	390;257;373	P14866;A6NIT8;Q6NTA2	HNRPL_HUMAN;.;.	H	390;257;257	ENSP00000221419:D390H	ENSP00000221419:D390H	D	-	1	0	HNRNPL	44022641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.709000	0.92574	0.555000	0.69702	GAT		0.597	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			3	104	0	0	0	1	0	3	104				
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:133948805A>T	ENST00000370784.4	+	2	521	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	FAM122C_ENST00000414371.2_Missense_Mutation_p.N75Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)Aat>Tat		family with sequence similarity 122C							70.0	70.0	70.0					X																	133948805		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948805A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.115A>T	X.37:g.133948805A>T	ENSP00000359820:p.Asn39Tyr		Somatic				FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR	p.N75Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			4	396	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.223A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183211	0.06340	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56103	0.48;0.48;0.48	5.33	1.48	0.22813	.	0.150932	0.64402	D	0.000020	T	0.58793	0.2147	L	0.49778	1.585	0.29605	N	0.847369	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.76071	0.986;0.952;0.987;0.987	T	0.55010	-0.8207	10	0.66056	D	0.02	-4.9597	4.0562	0.09818	0.6328:0.1757:0.1915:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	Y	75;39;39	ENSP00000402477:N75Y;ENSP00000359820:N39Y;ENSP00000359821:N39Y	ENSP00000359820:N39Y	N	+	1	0	FAM122C	133776471	0.994000	0.37717	0.001000	0.08648	0.043000	0.13939	0.822000	0.27352	-0.067000	0.12976	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		9	182	0	0	0	1	0	9	182				
UPF1	5976	broad.mit.edu	37	19	18958551	18958551	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:18958551A>T	ENST00000599848.1	+	3	580		c.e3-1		UPF1_ENST00000262803.5_Splice_Site			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTGATTTTTTAGTTACTGTGG	0.408											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.e3-1		UPF1 regulator of nonsense transcripts homolog (yeast)							119.0	113.0	115.0					19																	18958551		2203	4300	6503	SO:0001630	splice_region_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18958551A>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.372-1A>T	19.37:g.18958551A>T			Somatic	OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	729	UPF1_ENST00000599848.1_Splice_Site		NM_002911.3	NP_002902.2	WXS	Illumina GAIIx	Phase_I	Q92900	RENT1_HUMAN			3	643	+								O00239|O43343|Q86Z25|Q92842	Splice_Site	SNP	ENST00000599848.1	37			.	.	.	.	.	.	.	.	.	.	A	22.8	4.339987	0.81911	.	.	ENSG00000005007	ENST00000262803	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.725	0.69339	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UPF1	18819551	1.000000	0.71417	0.917000	0.36280	0.936000	0.57629	8.895000	0.92512	2.083000	0.62718	0.533000	0.62120	.		0.408	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	Intron	4	104	0	0	0	1	0	4	104				
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517																																						ENST00000395511.3																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e7-1		dehydrogenase/reductase (SDR family) member 7B							82.0	81.0	82.0					17																	21094259		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094259A>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.773-1A>T	17.37:g.21094259A>T			Somatic				DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron		NM_015510.4	NP_056325.2	WXS	Illumina GAIIx	Phase_I	Q6IAN0	DRS7B_HUMAN			7	1092	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592061	0.46214	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21034851	1.000000	0.71417	0.745000	0.31077	0.287000	0.27160	8.794000	0.91867	2.224000	0.72417	0.533000	0.62120	.		0.517	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	4	89	0	0	0	1	0	4	89				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(400-402)ttA>ttT		SMG7 nonsense mediated mRNA decay factor							78.0	83.0	81.0					1																	183495733		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495733A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.315A>T	1.37:g.183495733A>T	ENSP00000340766:p.Leu105Phe		Somatic				SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F	p.L134F			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	597	+			105					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.402A>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209266	0.58343	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.61	3.26	0.37387	Telomerase activating protein Est1 (1);	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	M	0.70275	2.135	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.999;1.0;1.0	T	0.14144	-1.0483	10	0.51188	T	0.08	-6.5871	5.7363	0.18069	0.7332:0.0:0.1402:0.1266	.	63;134;63;105;105;105	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	F	63;134;63;63;105;105;105	ENSP00000407629:L63F;ENSP00000356507:L134F;ENSP00000426915:L63F;ENSP00000388390:L63F;ENSP00000340766:L105F;ENSP00000425133:L105F;ENSP00000421358:L105F	ENSP00000340766:L105F	L	+	3	2	SMG7	181762356	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.431000	0.44775	1.056000	0.40484	0.533000	0.62120	TTA		0.348	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	97	0	0	0	1	0	4	97				
ZNF565	147929	broad.mit.edu	37	19	36673739	36673739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:36673739G>A	ENST00000355114.5	-	5	1975	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*	ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	417					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CGTGTGAGCTGTGCGTGCTGT	0.468																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1249-1251)Cag>Tag		zinc finger protein 565							143.0	118.0	127.0					19																	36673739		2203	4300	6503	SO:0001587	stop_gained	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673739G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1249C>T	19.37:g.36673739G>A	ENSP00000347234:p.Gln417*		Somatic				ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377*	p.Q417*			WXS	Illumina GAIIx	Phase_I	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1975	-	Esophageal squamous(110;0.162)		377					B3KQ35|Q6NUS2	Nonsense_Mutation	SNP	ENST00000355114.5	37	c.1249C>T		.	.	.	.	.	.	.	.	.	.	g	10.98	1.503500	0.26949	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	.	.	.	4.7	2.41	0.29592	.	0.000000	0.37809	N	0.001929	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	3.1828	0.06590	0.0969:0.1706:0.5563:0.1762	.	.	.	.	X	377;377;417	.	ENSP00000306869:Q377X	Q	-	1	0	ZNF565	41365579	0.000000	0.05858	0.756000	0.31282	0.002000	0.02628	-1.195000	0.03043	1.345000	0.45676	-0.142000	0.14014	CAG		0.468	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		10	353	0	0	0	1	0	10	353				
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1015-1017)caC>caA		zinc finger protein 12							63.0	68.0	66.0					7																	6731556		2196	4299	6495	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731556G>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1017C>A	7.37:g.6731556G>T	ENSP00000385939:p.His339Gln		Somatic				ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|AC073343.13_ENST00000366167.2_RNA	p.H339Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	WXS	Illumina GAIIx	Phase_I	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1558	-		Ovarian(82;0.0776)	339					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1017C>A	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622278	0.28889	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.28454	1.61;1.61;1.61	4.03	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000352	T	0.29288	0.0729	N	0.16478	0.41	0.30000	N	0.816085	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	T	0.18335	-1.0340	10	0.09338	T	0.73	.	8.2228	0.31552	0.2733:0.0:0.7267:0.0	.	339;301	P17014;P17014-5	ZNF12_HUMAN;.	Q	265;339;301;397;303	ENSP00000384405:H265Q;ENSP00000385939:H339Q;ENSP00000344745:H301Q	ENSP00000331039:H303Q	H	-	3	2	ZNF12	6698081	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.025000	0.13577	0.273000	0.22049	0.563000	0.77884	CAC		0.443	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		41	133	1	0	6.07928e-31	1	6.7365e-31	41	133				
ALDH1L2	160428	broad.mit.edu	37	12	105420396	105420396	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:105420396A>T	ENST00000258494.9	-	22	2783	c.2643T>A	c.(2641-2643)atT>atA	p.I881I	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	881	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TGTATGTGTTAATAAAAACAG	0.403																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(2641-2643)atT>atA		aldehyde dehydrogenase 1 family, member L2							144.0	140.0	141.0					12																	105420396		2203	4300	6503	SO:0001819	synonymous_variant	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105420396A>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2643T>A	12.37:g.105420396A>T			Somatic				C12orf45_ENST00000548583.1_Intron	p.I881I	NM_001034173.3	NP_001029345.2	WXS	Illumina GAIIx	Phase_I	Q3SY69	AL1L2_HUMAN			22	2783	-			881			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	c.2643T>A	CCDS31891.1																																																																																				0.403	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		6	289	0	0	0	1	0	6	289				
MCTP1	79772	broad.mit.edu	37	5	94043228	94043228	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:94043228A>T	ENST00000515393.1	-	23	2972	c.2973T>A	c.(2971-2973)taT>taA	p.Y991*	ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000514040.1_Intron|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	991					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTCTTTTATATGGGCTAT	0.453																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2971-2973)taT>taA		multiple C2 domains, transmembrane 1							148.0	143.0	145.0					5																	94043228		2203	4300	6503	SO:0001587	stop_gained	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94043228A>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2973T>A	5.37:g.94043228A>T	ENSP00000424126:p.Tyr991*		Somatic				MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron	p.Y991*	NM_024717.4	NP_078993.4	WXS	Illumina GAIIx	Phase_I	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	23	2972	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	991					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Nonsense_Mutation	SNP	ENST00000515393.1	37	c.2973T>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	34	5.298539	0.95574	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216	.	.	.	5.66	3.2	0.36748	.	0.211585	0.47455	D	0.000240	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2733	8.4095	0.32636	0.6903:0.0:0.3097:0.0	.	.	.	.	X	991;684;507;770	.	ENSP00000308957:Y770X	Y	-	3	2	MCTP1	94068984	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.675000	0.46875	0.397000	0.25310	0.482000	0.46254	TAT		0.453	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		8	236	0	0	0	1	0	8	236				
OTOGL	283310	broad.mit.edu	37	12	80764348	80764348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:80764348A>T	ENST00000547103.1	+	55	6558		c.e55-1		OTOGL_ENST00000546620.1_Splice_Site|OTOGL_ENST00000458043.2_Splice_Site			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGATTTTTAGGTAGGGAGT	0.308																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.e55-1		otogelin-like							105.0	105.0	105.0					12																	80764348		2203	4300	6503	SO:0001630	splice_region_variant	283310							g.chr12:80764348A>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6553-1A>T	12.37:g.80764348A>T			Somatic				OTOGL_ENST00000547103.1_Splice_Site|OTOGL_ENST00000546620.1_Splice_Site		NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					55	6594	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37			.	.	.	.	.	.	.	.	.	.	A	12.16	1.855117	0.32791	.	.	ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000298820;ENST00000546620;ENST00000550182	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1629	0.72798	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOGL	79288479	1.000000	0.71417	0.976000	0.42696	0.110000	0.19582	8.457000	0.90361	2.074000	0.62210	0.482000	0.46254	.		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Intron	5	117	0	0	0	1	0	5	117				
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000414361.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.e19-1		threonyl-tRNA synthetase	L-Threonine(DB00156)						59.0	53.0	55.0					5																	33467663		2203	4300	6503	SO:0001630	splice_region_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467663A>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2024-1A>T	5.37:g.33467663A>T			Somatic				TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site		NM_152295.4	NP_689508.3	WXS	Illumina GAIIx	Phase_I	P26639	SYTC_HUMAN			19	2334	+								A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Splice_Site	SNP	ENST00000265112.3	37		CCDS3899.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268659	0.80469	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6393	0.76984	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TARS	33503420	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	9.211000	0.95120	2.091000	0.63221	0.455000	0.32223	.		0.408	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	Intron	4	87	0	0	0	1	0	4	87				
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:57955884C>T	ENST00000334181.4	+	3	1618	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	456					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.H369H(1)|p.H456H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423																																						ENST00000334181.4																			2	Substitution - coding silent(2)	p.H369H(1)|p.H456H(1)	endometrium(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1366-1368)caC>caT		zinc finger protein 749							93.0	89.0	91.0					19																	57955884		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955884C>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1368C>T	19.37:g.57955884C>T			Somatic				AC004076.9_ENST00000596831.1_Intron	p.H456H	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1618	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	456						Silent	SNP	ENST00000334181.4	37	c.1368C>T	CCDS33132.2																																																																																				0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		5	525	0	0	0	1	0	5	525				
UBC	7316	broad.mit.edu	37	12	125397946	125397946	+	Silent	SNP	C	C	T	rs577374084	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:125397946C>T	ENST00000538617.1	-	3	688	c.372G>A	c.(370-372)aaG>aaA	p.K124K	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000536769.1_Silent_p.K124K|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	504	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.K124K(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTCCAGCTGCTTTCCGGCAA	0.542													-|||	3	0.000599042	0.0	0.0	5008	,	,		28580	0.0		0.0	False		,,,				2504	0.0031					ENST00000536769.1																			1	Substitution - coding silent(1)	p.K124K(1)	endometrium(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(370-372)aaG>aaA		ubiquitin C							145.0	138.0	140.0					12																	125397946		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397946C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.372G>A	12.37:g.125397946C>T			Somatic				UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000538617.1_Silent_p.K124K	p.K124K			WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1948	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		124			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.372G>A																																																																																					0.542	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		18	455	0	0	0	1	0	18	455				
SLC13A5	284111	broad.mit.edu	37	17	6607201	6607201	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:6607201C>A	ENST00000433363.2	-	4	776	c.543G>T	c.(541-543)ctG>ctT	p.L181L	SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L|SLC13A5_ENST00000573648.1_Silent_p.L181L	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	181					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)	p.L181L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTCACCTGGCAGCTCCTTGG	0.642																																						ENST00000433363.2																			3	Substitution - coding silent(3)	p.L181L(3)	prostate(2)|lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(541-543)ctG>ctT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							36.0	34.0	35.0					17																	6607201		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6607201C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.543G>T	17.37:g.6607201C>A			Somatic				SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L|SLC13A5_ENST00000573648.1_Silent_p.L181L	p.L181L	NM_177550.3	NP_808218.1	WXS	Illumina GAIIx	Phase_I	Q86YT5	S13A5_HUMAN			4	776	-			181					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.543G>T	CCDS11079.1																																																																																				0.642	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		6	50	1	0	3.86212e-05	1	3.99866e-05	6	50				
OR4F4	26682	broad.mit.edu	37	15	102462642	102462642	+	Silent	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:102462642T>A	ENST00000326183.3	-	1	656	c.621A>T	c.(619-621)ctA>ctT	p.L207L		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGAGATGATTAGAAGAACAA	0.413																																						ENST00000326183.3																			0				ovary(1)	1						c.(619-621)ctA>ctT		olfactory receptor, family 4, subfamily F, member 4							146.0	217.0	195.0					15																	102462642		1794	4109	5903	SO:0001819	synonymous_variant	26682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102462642T>A		CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"""GPCR / Class A : Olfactory receptors"""	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.621A>T	15.37:g.102462642T>A			Somatic					p.L207L	NM_001004195.2	NP_001004195.2	WXS	Illumina GAIIx	Phase_I	Q96R69	OR4F4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	656	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		207					B2RNI5|Q6IFN9	Silent	SNP	ENST00000326183.3	37	c.621A>T	CCDS32343.1																																																																																				0.413	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417599.1	NM_001004195		7	1354	0	0	0	1	0	7	1354				
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	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.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(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)		ACCGATACTTTTCTCCAAATT	0.338		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"""		55	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(3)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(14)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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.(1009-1011)ttT>ttA		phosphatase and tensin homolog							52.0	55.0	54.0					10																	89720860		2203	4299	6502	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.chr10:89720860T>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.1011T>A	10.37:g.89720860T>A	ENSP00000361021:p.Phe337Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.F337L	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)	8	2368	+		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)	337			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1011T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306212	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.86769	-2.17	5.37	1.83	0.25207	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.73962	2.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.67103	0.949	D	0.88493	0.3077	9	.	.	.	0.0365	8.9952	0.36048	0.0:0.3848:0.0:0.6152	.	337	P60484	PTEN_HUMAN	L	337	ENSP00000361021:F337L	.	F	+	3	2	PTEN	89710840	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.461000	0.21940	0.366000	0.24427	-0.353000	0.07706	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		12	130	0	0	0	1	0	12	130				
PIK3CB	5291	broad.mit.edu	37	3	138433380	138433380	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:138433380A>T	ENST00000477593.1	-	8	1305	c.1232T>A	c.(1231-1233)gTa>gAa	p.V411E	PIK3CB_ENST00000544716.1_5'Flank|PIK3CB_ENST00000289153.2_Missense_Mutation_p.V411E			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	411	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)	CTTCGTTTTTACTTTATCCAA	0.328																																						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.(1231-1233)gTa>gAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							152.0	143.0	146.0					3																	138433380		2203	4300	6503	SO:0001583	missense	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.chr3:138433380A>T		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.1232T>A	3.37:g.138433380A>T	ENSP00000418143:p.Val411Glu		Somatic				PIK3CB_ENST00000289153.2_Missense_Mutation_p.V411E	p.V411E			WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			8	1305	-			411			C2 PI3K-type.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1232T>A	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.65|13.65	2.301816|2.301816	0.40694|0.40694	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000289153|ENST00000493568	T;T|.	0.74947|.	-0.89;-0.89|.	5.61|5.61	-0.771|-0.771	0.11002|0.11002	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);|.	0.729507|.	0.13320|.	N|.	0.396769|.	T|.	0.51686|.	0.1689|.	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B;B|.	0.27264|.	0.173;0.076|.	B;B|.	0.32022|.	0.139;0.139|.	T|.	0.41805|.	-0.9488|.	10|.	0.38643|.	T|.	0.18|.	-4.4359|-4.4359	10.4055|10.4055	0.44254|0.44254	0.5892:0.0:0.4108:0.0|0.5892:0.0:0.4108:0.0	.|.	411;15|.	P42338;B4DZI3|.	PK3CB_HUMAN;.|.	E|K	411|60	ENSP00000418143:V411E;ENSP00000289153:V411E|.	ENSP00000289153:V411E|.	V|X	-|-	2|1	0|0	PIK3CB|PIK3CB	139916070|139916070	0.989000|0.989000	0.36119|0.36119	0.541000|0.541000	0.28102|0.28102	0.994000|0.994000	0.84299|0.84299	2.312000|2.312000	0.43726|0.43726	-0.067000|-0.067000	0.12976|0.12976	-0.280000|-0.280000	0.10049|0.10049	GTA|TAA		0.328	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	41	0	0	0	1	0	4	41				
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1240-1242)gaG>gaC		interleukin 1 receptor-like 2							118.0	113.0	115.0					2																	102849529		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849529G>C	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1242G>C	2.37:g.102849529G>C	ENSP00000264257:p.Glu414Asp		Somatic				IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR	p.E414D	NM_003854.2	NP_003845.2	WXS	Illumina GAIIx	Phase_I	Q9HB29	ILRL2_HUMAN			10	1368	+			414			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1242G>C	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102729	0.56183	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.10005	2.92;2.92;2.92	6.07	5.2	0.72013	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.106321	0.64402	D	0.000007	T	0.38639	0.1048	M	0.91196	3.185	0.41327	D	0.987213	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44221	-0.9342	10	0.87932	D	0	.	9.3919	0.38378	0.2223:0.0:0.7777:0.0	.	296;414	A4FU63;Q9HB29	.;ILRL2_HUMAN	D	414;296;414	ENSP00000264257:E414D;ENSP00000413348:E296D;ENSP00000442184:E414D	ENSP00000264257:E414D	E	+	3	2	IL1RL2	102215961	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	2.498000	0.45363	1.587000	0.49959	-0.136000	0.14681	GAG		0.448	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		85	141	0	0	0	1	0	85	141				
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000546711.1_Missense_Mutation_p.P911T|FGD6_ENST00000549499.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2731-2733)Cca>Aca		FYVE, RhoGEF and PH domain containing 6							118.0	107.0	111.0					12																	95535270		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535270G>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2731C>A	12.37:g.95535270G>T	ENSP00000344446:p.Pro911Thr		Somatic				FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T	p.P911T	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			6	2954	-			911			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2731C>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709621	0.68730	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	3.79	0.43588	Dbl homology (DH) domain (5);	0.147341	0.31797	N	0.007055	T	0.77685	0.4167	M	0.76002	2.32	0.53688	D	0.999978	D	0.71674	0.998	D	0.67382	0.951	T	0.80663	-0.1282	10	0.87932	D	0	-4.419	15.9087	0.79450	0.0:0.2764:0.7236:0.0	.	911	Q6ZV73	FGD6_HUMAN	T	911	ENSP00000344446:P911T;ENSP00000450342:P911T;ENSP00000449005:P911T	ENSP00000344446:P911T	P	-	1	0	FGD6	94059401	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.328000	0.59253	0.686000	0.31488	0.563000	0.77884	CCA		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		77	99	1	0	1.53276e-45	1	1.70769e-45	77	99				
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T	rs539491304		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1633-1635)acT>acA		tripartite motif containing 33							329.0	310.0	316.0					1																	114968131		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968131A>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1635T>A	1.37:g.114968131A>T			Somatic				TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	p.T545T	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1718	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	545			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1635T>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	A	1.505	-0.551091	0.03996	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	-7.91	0.01165	.	.	.	.	.	T	0.04861	0.0131	.	.	.	0.28657	N	0.906343	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-1.6547	0.3179	0.00298	0.3705:0.158:0.215:0.2564	.	.	.	.	Q	282	.	.	L	-	2	0	TRIM33	114769654	0.345000	0.24835	0.755000	0.31263	0.205000	0.24178	-0.705000	0.05052	-1.148000	0.02847	-1.721000	0.00707	CTA		0.428	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		6	388	0	0	0	1	0	6	388				
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:72420855A>T	ENST00000264485.5	+	21	2811		c.e21-1		SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						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)	TTTTCCTTCTAGTTTATACCC	0.323																																						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.e18-1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							224.0	228.0	227.0					4																	72420855		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420855A>T	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.2695-1A>T	4.37:g.72420855A>T			Somatic				SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site		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)		18	2758	+								C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37		CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281305	0.80692	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72639719	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	9.253000	0.95501	2.320000	0.78422	0.528000	0.53228	.		0.323	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron	8	427	0	0	0	1	0	8	427				
ZSWIM4	65249	broad.mit.edu	37	19	13910666	13910666	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:13910666G>T	ENST00000254323.2	+	2	475	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	96							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGAGCACGATGCCCGGGTGCC	0.632																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(286-288)Gcc>Tcc		zinc finger, SWIM-type containing 4							65.0	61.0	62.0					19																	13910666		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13910666G>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.286G>T	19.37:g.13910666G>T	ENSP00000254323:p.Ala96Ser		Somatic					p.A96S	NM_023072.2	NP_075560.2	WXS	Illumina GAIIx	Phase_I	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		2	475	+			96						Missense_Mutation	SNP	ENST00000254323.2	37	c.286G>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	5.984	0.365473	0.11352	.	.	ENSG00000132003	ENST00000254323	T	0.39997	1.05	4.18	-1.06	0.10002	.	1.267390	0.06038	U	0.654295	T	0.09730	0.0239	N	0.00368	-1.59	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.49031	-0.8981	10	0.08179	T	0.78	-0.8294	3.2087	0.06675	0.3713:0.0:0.3128:0.3158	.	96	Q9H7M6	ZSWM4_HUMAN	S	96	ENSP00000254323:A96S	ENSP00000254323:A96S	A	+	1	0	ZSWIM4	13771666	0.089000	0.21612	0.735000	0.30896	0.712000	0.41017	0.660000	0.25009	-0.037000	0.13646	-0.228000	0.12330	GCC		0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		9	234	1	0	1.04858e-14	1	1.13734e-14	9	234				
ENTPD5	957	broad.mit.edu	37	14	74444079	74444079	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:74444079T>A	ENST00000334696.6	-	7	761		c.e7-2		ENTPD5_ENST00000557325.1_Splice_Site	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5						'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTCCTTTACCTAGAGAAAAAG	0.388																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.e7-2		ectonucleoside triphosphate diphosphohydrolase 5							67.0	60.0	62.0					14																	74444079		2203	4300	6503	SO:0001630	splice_region_variant	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74444079T>A	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.442-2A>T	14.37:g.74444079T>A			Somatic				ENTPD5_ENST00000557325.1_Splice_Site		NM_001249.2	NP_001240.1	WXS	Illumina GAIIx	Phase_I	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	7	761	-								A1L4C5|Q96RX0	Splice_Site	SNP	ENST00000334696.6	37		CCDS9825.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939627	0.73557	.	.	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.683	0.69031	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENTPD5	73513832	1.000000	0.71417	0.967000	0.41034	0.850000	0.48378	6.831000	0.75324	2.131000	0.65755	0.533000	0.62120	.		0.388	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249	Intron	4	77	0	0	0	1	0	4	77				
TTC30A	92104	broad.mit.edu	37	2	178482598	178482598	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:178482598G>A	ENST00000355689.5	-	1	1096	c.832C>T	c.(832-834)Cca>Tca	p.P278S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	278					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCCCTGGGTGGCATGTCGGTG	0.507																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(832-834)Cca>Tca		tetratricopeptide repeat domain 30A							128.0	137.0	134.0					2																	178482598		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482598G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.832C>T	2.37:g.178482598G>A	ENSP00000347915:p.Pro278Ser		Somatic				AC073834.3_ENST00000357045.4_RNA	p.P278S	NM_152275.3	NP_689488.3	WXS	Illumina GAIIx	Phase_I	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1096	-			278					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.832C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810278	0.50421	.	.	ENSG00000197557	ENST00000355689	T	0.33216	1.42	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.93197	3.39	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.74194	-0.3744	10	0.72032	D	0.01	.	20.0827	0.97786	0.0:0.0:1.0:0.0	.	278	Q86WT1	TT30A_HUMAN	S	278	ENSP00000347915:P278S	ENSP00000347915:P278S	P	-	1	0	TTC30A	178190844	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.979000	0.56888	2.755000	0.94549	0.549000	0.68633	CCA		0.507	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		5	398	0	0	0	1	0	5	398				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000455934.2_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	48	0	0	0	1	0	4	48				
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(37-39)aaT>aaA		CDC42 effector protein (Rho GTPase binding) 3							149.0	158.0	155.0					2																	37873692		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873692A>T	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.39T>A	2.37:g.37873692A>T	ENSP00000295324:p.Asn13Lys		Somatic				AC006369.2_ENST00000419425.1_RNA	p.N13K	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	WXS	Illumina GAIIx	Phase_I	Q9UKI2	BORG2_HUMAN			2	1039	-		all_hematologic(82;0.172)	13					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.39T>A	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503776	0.44558	.	.	ENSG00000163171	ENST00000295324;ENST00000457889;ENST00000453555;ENST00000422687	T	0.30182	1.54	5.91	1.41	0.22369	.	0.140322	0.64402	D	0.000007	T	0.13841	0.0335	N	0.14661	0.345	0.39142	D	0.962061	P	0.37781	0.608	B	0.32864	0.154	T	0.12142	-1.0559	10	0.27082	T	0.32	-32.0066	8.7333	0.34512	0.3633:0.0:0.6367:0.0	.	13	Q9UKI2	BORG2_HUMAN	K	13	ENSP00000295324:N13K	ENSP00000295324:N13K	N	-	3	2	CDC42EP3	37727196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.828000	0.27435	0.582000	0.29556	0.533000	0.62120	AAT		0.448	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		4	215	0	0	0	1	0	4	215				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		6	151	0	0	0	1	0	6	151				
EVI2B	2124	broad.mit.edu	37	17	29632058	29632058	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:29632058A>T	ENST00000330927.4	-	2	724	c.570T>A	c.(568-570)agT>agA	p.S190R	EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	190						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(568-570)agT>agA		ecotropic viral integration site 2B							187.0	189.0	188.0					17																	29632058		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632058A>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.570T>A	17.37:g.29632058A>T	ENSP00000333779:p.Ser190Arg		Somatic				EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.S190R	NM_006495.3	NP_006486.3	WXS	Illumina GAIIx	Phase_I	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	724	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	190					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.570T>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812507	0.32053	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.48201	0.82;0.82	5.22	2.9	0.33743	.	0.667620	0.13484	N	0.384495	T	0.34890	0.0913	L	0.35723	1.085	0.09310	N	0.999999	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.23190	-1.0195	10	0.39692	T	0.17	-21.0591	5.9124	0.19035	0.7691:0.0:0.0845:0.1465	.	205;190	B7Z4A7;P34910	.;EVI2B_HUMAN	R	190;205	ENSP00000333779:S190R;ENSP00000439738:S205R	ENSP00000333779:S190R	S	-	3	2	EVI2B	26656184	0.000000	0.05858	0.013000	0.15412	0.158000	0.22134	-0.239000	0.08965	0.799000	0.34018	0.402000	0.26972	AGT		0.338	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		5	271	0	0	0	1	0	5	271				
STT3B	201595	broad.mit.edu	37	3	31621496	31621496	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:31621496A>T	ENST00000295770.2	+	3	828	c.619A>T	c.(619-621)Att>Ttt	p.I207F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	207					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTTATTGCTATTGTACCAGG	0.398																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(619-621)Att>Ttt		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)							172.0	166.0	168.0					3																	31621496		2203	4300	6503	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31621496A>T	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.619A>T	3.37:g.31621496A>T	ENSP00000295770:p.Ile207Phe		Somatic				STT3B_ENST00000453168.1_3'UTR	p.I207F	NM_178862.1	NP_849193.1	WXS	Illumina GAIIx	Phase_I	Q8TCJ2	STT3B_HUMAN			3	828	+			207					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.619A>T	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338726	0.81911	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.90759	3.145	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.87645	0.2524	9	0.59425	D	0.04	-9.9166	16.0207	0.80486	1.0:0.0:0.0:0.0	.	207	Q8TCJ2	STT3B_HUMAN	F	207	.	ENSP00000295770:I207F	I	+	1	0	STT3B	31596500	1.000000	0.71417	0.995000	0.50966	0.571000	0.35966	9.339000	0.96797	2.179000	0.69175	0.482000	0.46254	ATT		0.398	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		6	493	0	0	0	1	0	6	493				
OR2L13	284521	broad.mit.edu	37	1	248262935	248262935	+	Silent	SNP	C	C	T	rs548586823	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:248262935C>T	ENST00000358120.2	+	2	403	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OR2L13_ENST00000366478.2_Silent_p.S86S			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTTCCTGTCCGGCCAGAAAG	0.542													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21740	0.0		0.0	False		,,,				2504	0.002					ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(256-258)tcC>tcT		olfactory receptor, family 2, subfamily L, member 13							235.0	208.0	217.0					1																	248262935		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262935C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.258C>T	1.37:g.248262935C>T			Somatic				OR2L13_ENST00000358120.2_Silent_p.S86S	p.S86S	NM_175911.2	NP_787107.1	WXS	Illumina GAIIx	Phase_I	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	595	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		86					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.258C>T	CCDS1637.1																																																																																				0.542	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		4	627	0	0	0	1	0	4	627				
SCN5A	6331	broad.mit.edu	37	3	38655278	38655278	+	Missense_Mutation	SNP	G	G	C	rs45620037		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:38655278G>C	ENST00000333535.4	-	6	808	c.659C>G	c.(658-660)aCc>aGc	p.T220S	SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000443581.1_Missense_Mutation_p.T220S|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000450102.2_Intron			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	220			T -> I (in SSS1; dbSNP:rs45620037). {ECO:0000269|PubMed:14523039}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GACTCGGAAGGTGCGTAAGGC	0.478																																						ENST00000443581.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM033019	SCN5A	M	rs45620037	c.(658-660)aCc>aGc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						50.0	53.0	52.0					3																	38655278		2016	4204	6220	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38655278G>C	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.659C>G	3.37:g.38655278G>C	ENSP00000328968:p.Thr220Ser		Somatic				SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T220S	p.T220S	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	6	852	-	Medulloblastoma(35;0.163)		220		T -> I (in SSS1; dbSNP:rs45620037).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.659C>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622482	0.87460	.	.	ENSG00000183873	ENST00000423572;ENST00000443581;ENST00000333535;ENST00000449557	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98804	0.9597	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.85130	0.866;0.997	D	0.99675	1.0997	10	0.62326	D	0.03	.	17.0399	0.86486	0.0:0.0:1.0:0.0	.	220;220	Q14524;Q14524-2	SCN5A_HUMAN;.	S	220	ENSP00000398266:T220S;ENSP00000397915:T220S;ENSP00000328968:T220S;ENSP00000413996:T220S	ENSP00000328968:T220S	T	-	2	0	SCN5A	38630282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.249000	0.74217	0.555000	0.69702	ACC		0.478	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	24	0	0	0	1	0	3	24				
KANK4	163782	broad.mit.edu	37	1	62739504	62739504	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:62739504G>A	ENST00000371153.4	-	3	1650	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	424						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACGACTCCCTGGTCAAGAGTC	0.557																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1270-1272)acC>acT		KN motif and ankyrin repeat domains 4							214.0	193.0	200.0					1																	62739504		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62739504G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1272C>T	1.37:g.62739504G>A			Somatic				KANK4_ENST00000354381.3_Intron	p.T424T	NM_181712.4	NP_859063.3	WXS	Illumina GAIIx	Phase_I	Q5T7N3	KANK4_HUMAN			3	1650	-			424					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.1272C>T	CCDS620.1																																																																																				0.557	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		4	462	0	0	0	1	0	4	462				
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		5	655	0	0	0	1	0	5	655				
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.e4-2		WNT inhibitory factor 1							77.0	70.0	72.0					12																	65462686		2203	4300	6503	SO:0001630	splice_region_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462686T>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.398-2A>T	12.37:g.65462686T>A			Somatic						NM_007191.4	NP_009122.2	WXS	Illumina GAIIx	Phase_I	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	772	-								Q6UXI1|Q8WVG4	Splice_Site	SNP	ENST00000286574.4	37		CCDS8971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.968138|3.968138	0.74131|0.74131	.|.	.|.	ENSG00000156076|ENSG00000156076	ENST00000286574;ENST00000546001|ENST00000535025	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71576	.|0.3356	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71122	.|-0.4684	.|4	.|.	.|.	.|.	.|.	15.5624|15.5624	0.76258|0.76258	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|V	-1|18	.|.	.|.	.|E	-|-	.|2	.|0	WIF1|WIF1	63748953|63748953	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.896000|0.896000	0.52359|0.52359	6.654000|6.654000	0.74387|0.74387	2.142000|2.142000	0.66516|0.66516	0.533000|0.533000	0.62120|0.62120	.|GAG		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		Intron	6	108	0	0	0	1	0	6	108				
GSK3B	2932	broad.mit.edu	37	3	119624701	119624701	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:119624701T>A	ENST00000264235.8	-	7	1698		c.e7-2		GSK3B_ENST00000316626.5_Splice_Site	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta						axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCATACATCTAAAGAGAAAA	0.373																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.e7-2		glycogen synthase kinase 3 beta	Lithium(DB01356)						160.0	167.0	165.0					3																	119624701		2203	4300	6503	SO:0001630	splice_region_variant	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119624701T>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.716-2A>T	3.37:g.119624701T>A			Somatic				GSK3B_ENST00000316626.5_Splice_Site		NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	WXS	Illumina GAIIx	Phase_I	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	7	1698	-								D3DN89|Q9BWH3|Q9UL47	Splice_Site	SNP	ENST00000264235.8	37		CCDS54628.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246777	0.80024	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6655	0.68904	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSK3B	121107391	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.144000	0.77357	2.132000	0.65825	0.459000	0.35465	.		0.373	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		Intron	6	250	0	0	0	1	0	6	250				
CFAP53	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(976-978)gaT>gaA		coiled-coil domain containing 11							241.0	215.0	223.0					18																	47777146		1854	4095	5949	SO:0001583	missense	220136							g.chr18:47777146A>T																												ENST00000398545.4:c.978T>A	18.37:g.47777146A>T	ENSP00000381553:p.Asp326Glu		Somatic					p.D326E	NM_145020.3	NP_659457.2	WXS	Illumina GAIIx	Phase_I	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	5	1095	-			326						Missense_Mutation	SNP	ENST00000398545.4	37	c.978T>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637057	0.29157	.	.	ENSG00000172361	ENST00000398545	T	0.07216	3.21	5.96	-2.61	0.06171	.	0.445863	0.24823	N	0.035311	T	0.03477	0.0100	L	0.31664	0.95	0.29478	N	0.856576	B	0.12013	0.005	B	0.16722	0.016	T	0.44345	-0.9334	10	0.02654	T	1	-7.8359	3.1294	0.06418	0.2438:0.468:0.1605:0.1277	.	326	Q96M91	CCD11_HUMAN	E	326	ENSP00000381553:D326E	ENSP00000381553:D326E	D	-	3	2	CCDC11	46031144	0.973000	0.33851	0.928000	0.36995	0.945000	0.59286	0.003000	0.13083	-0.079000	0.12707	0.533000	0.62120	GAT		0.423	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			14	787	0	0	0	1	0	14	787				
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:57955885C>G	ENST00000334181.4	+	3	1619	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	457					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.Q457E(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.Q457E(1)|p.Q370E(1)	endometrium(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1369-1371)Cag>Gag		zinc finger protein 749							92.0	89.0	90.0					19																	57955885		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955885C>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1369C>G	19.37:g.57955885C>G	ENSP00000333980:p.Gln457Glu		Somatic				AC004076.9_ENST00000596831.1_Intron	p.Q457E	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1619	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	457						Missense_Mutation	SNP	ENST00000334181.4	37	c.1369C>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410685	0.25465	.	.	ENSG00000186230	ENST00000334181	T	0.07327	3.2	1.62	0.523	0.17060	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.38649	1.16	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33904	-0.9850	9	0.52906	T	0.07	.	5.9852	0.19430	0.5886:0.4114:0.0:0.0	.	457	O43361	ZN749_HUMAN	E	457	ENSP00000333980:Q457E	ENSP00000333980:Q457E	Q	+	1	0	ZNF749	62647697	.	.	0.001000	0.08648	0.750000	0.42670	.	.	0.202000	0.20498	0.650000	0.86243	CAG		0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		5	527	0	0	0	1	0	5	527				
TTN	7273	broad.mit.edu	37	2	179434473	179434473	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:179434473A>T	ENST00000591111.1	-	276	71687	c.71463T>A	c.(71461-71463)aaT>aaA	p.N23821K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N25462K|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23821	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TGTTTGTTTTATTAATTCCTG	0.383																																						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.(76384-76386)aaT>aaA		titin							100.0	90.0	93.0					2																	179434473		1873	4112	5985	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434473A>T	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.71463T>A	2.37:g.179434473A>T	ENSP00000465570:p.Asn23821Lys		Somatic				TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.N25462K	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)		326	76610	-			23821			Fibronectin type-III 85.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76386T>A		.	.	.	.	.	.	.	.	.	.	A	14.56	2.573187	0.45902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.92	1.02	0.19986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22513	0.0543	N	0.02420	-0.555	0.26996	N	0.965015	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.17715	-1.0360	9	0.87932	D	0	.	1.7774	0.03025	0.4034:0.2327:0.2581:0.1058	.	16397;16522;16589;23821	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22894;16397;16589;16522;16395	ENSP00000343764:N22894K;ENSP00000434586:N16397K;ENSP00000340554:N16589K;ENSP00000352154:N16522K	ENSP00000340554:N16589K	N	-	3	2	TTN	179142719	0.144000	0.22641	0.891000	0.34965	0.994000	0.84299	-0.260000	0.08708	0.156000	0.19299	0.533000	0.62120	AAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	102	0	0	0	1	0	4	102				
VEGFC	7424	broad.mit.edu	37	4	177632806	177632806	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:177632806T>A	ENST00000280193.2	-	4	968		c.e4-2		VEGFC_ENST00000507638.1_Splice_Site	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCAAATAACTACAAAGAAGG	0.363																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.e4-2		vascular endothelial growth factor C							115.0	109.0	111.0					4																	177632806		1837	4083	5920	SO:0001630	splice_region_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177632806T>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.553-2A>T	4.37:g.177632806T>A			Somatic				VEGFC_ENST00000507638.1_Splice_Site		NM_005429.2	NP_005420.1	WXS	Illumina GAIIx	Phase_I	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	4	968	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)						B2R9Q8	Splice_Site	SNP	ENST00000280193.2	37		CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460404	0.84317	.	.	ENSG00000150630	ENST00000280193	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VEGFC	177869800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.690000	0.84178	2.330000	0.79161	0.477000	0.44152	.		0.363	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	Intron	8	227	0	0	0	1	0	8	227				
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1266					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAATAGAAATTAAAAGCAAAA	0.443																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3796-3798)atT>atA		natural killer-tumor recognition sequence							82.0	88.0	86.0					3																	42680994		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680994T>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3798T>A	3.37:g.42680994T>A			Somatic				RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.I1266I	NM_005385.3	NP_005376.2	WXS	Illumina GAIIx	Phase_I	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3986	+			1266						Silent	SNP	ENST00000232978.8	37	c.3798T>A	CCDS2702.1																																																																																				0.443	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		6	143	0	0	0	1	0	6	143				
IL22RA2	116379	broad.mit.edu	37	6	137468946	137468946	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:137468946A>T	ENST00000296980.2	-	6	855	c.555T>A	c.(553-555)taT>taA	p.Y185*	IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Nonsense_Mutation_p.Y153*	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	185	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TTTGGTATCTATATGGTAAAT	0.303																																						ENST00000296980.2																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(553-555)taT>taA		interleukin 22 receptor, alpha 2							88.0	98.0	94.0					6																	137468946		2203	4295	6498	SO:0001587	stop_gained	116379				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137468946A>T	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.555T>A	6.37:g.137468946A>T	ENSP00000296980:p.Tyr185*		Somatic				IL22RA2_ENST00000349184.4_Nonsense_Mutation_p.Y153*|IL22RA2_ENST00000339602.3_Intron	p.Y185*	NM_052962.2	NP_443194.1	WXS	Illumina GAIIx	Phase_I	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	6	855	-	Colorectal(23;0.24)		185			Fibronectin type-III 3.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Nonsense_Mutation	SNP	ENST00000296980.2	37	c.555T>A	CCDS5182.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504943	0.64410	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	.	.	.	5.58	0.274	0.15654	.	1.506900	0.04047	N	0.304169	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.6747	0.08287	0.5562:0.0:0.2883:0.1555	.	.	.	.	X	153;185	.	ENSP00000296980:Y185X	Y	-	3	2	IL22RA2	137510639	0.470000	0.25854	0.001000	0.08648	0.005000	0.04900	0.231000	0.17872	-0.167000	0.10871	-0.259000	0.10710	TAT		0.303	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			4	241	0	0	0	1	0	4	241				
POLQ	10721	broad.mit.edu	37	3	121207884	121207884	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:121207884A>T	ENST00000264233.5	-	16	4022	c.3894T>A	c.(3892-3894)taT>taA	p.Y1298*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1298					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTTTGTTGTATAAGTACCTG	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3892-3894)taT>taA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							76.0	76.0	76.0					3																	121207884		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207884A>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3894T>A	3.37:g.121207884A>T	ENSP00000264233:p.Tyr1298*		Somatic					p.Y1298*	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4022	-			1298					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.3894T>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	37	6.601094	0.97697	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.76	1.99	0.26369	.	0.360466	0.29916	N	0.010879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6529	0.45659	0.7272:0.0:0.2728:0.0	.	.	.	.	X	921;1298;1434	.	ENSP00000264233:Y1298X	Y	-	3	2	POLQ	122690574	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	1.299000	0.33424	-0.120000	0.11809	-1.450000	0.01041	TAT		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		4	59	0	0	0	1	0	4	59				
TMCO5A	145942	broad.mit.edu	37	15	38233348	38233348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:38233348A>T	ENST00000319669.4	+	6	489		c.e6-1		TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000558158.1_Splice_Site	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A							integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCTTTCTTTAGGTTAAGTTA	0.488																																						ENST00000558158.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.e7-1		transmembrane and coiled-coil domains 5A							99.0	88.0	92.0					15																	38233348		2200	4297	6497	SO:0001630	splice_region_variant	145942					integral to membrane		g.chr15:38233348A>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.388-1A>T	15.37:g.38233348A>T			Somatic				TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N6Q1	TMC5A_HUMAN			7	541	+								Q8NA63	Splice_Site	SNP	ENST00000319669.4	37		CCDS10046.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262599	0.23051	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8839	0.52592	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMCO5A	36020640	0.982000	0.34865	0.552000	0.28243	0.163000	0.22366	3.953000	0.56699	2.367000	0.80283	0.528000	0.53228	.		0.488	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453	Intron	6	280	0	0	0	1	0	6	280				
PDE1B	5153	broad.mit.edu	37	12	54963015	54963015	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:54963015C>T	ENST00000243052.3	+	4	711	c.275C>T	c.(274-276)gCc>gTc	p.A92V	PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000394277.3_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	92					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CGGTCAGATGCCGTGCCTTCG	0.632																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(274-276)gCc>gTc		phosphodiesterase 1B, calmodulin-dependent							65.0	68.0	67.0					12																	54963015		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963015C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.275C>T	12.37:g.54963015C>T	ENSP00000243052:p.Ala92Val		Somatic				PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000394277.3_Intron	p.A92V	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			4	711	+			92					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.275C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777110	0.70107	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69561	-0.41;-0.4;-0.4	4.97	4.97	0.65823	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.294335	0.33005	N	0.005381	T	0.65302	0.2678	L	0.32530	0.975	0.47341	D	0.999398	P;P	0.38250	0.57;0.624	B;P	0.45913	0.363;0.497	T	0.67749	-0.5590	10	0.52906	T	0.07	.	16.096	0.81123	0.0:1.0:0.0:0.0	.	72;92	Q01064-2;Q01064	.;PDE1B_HUMAN	V	92;51;72	ENSP00000243052:A92V;ENSP00000442559:A51V;ENSP00000448519:A72V	ENSP00000243052:A92V	A	+	2	0	PDE1B	53249282	0.971000	0.33674	0.932000	0.37286	0.985000	0.73830	3.950000	0.56676	2.459000	0.83118	0.655000	0.94253	GCC		0.632	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			4	529	0	0	0	1	0	4	529				
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000391982.2_Silent_p.G349G	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1045-1047)ggC>ggA		calpain 10							52.0	58.0	56.0					2																	241534490		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534490C>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1047C>A	2.37:g.241534490C>A			Somatic				CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G	p.G349G	NM_023083.3	NP_075571.1	WXS	Illumina GAIIx	Phase_I	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	7	1243	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	349			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1047C>A	CCDS42838.1																																																																																				0.632	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		15	31	1	0	8.24728e-16	1	8.99305e-16	15	31				
C16orf72	29035	broad.mit.edu	37	16	9210552	9210552	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:9210552G>A	ENST00000327827.7	+	4	1008	c.611G>A	c.(610-612)aGc>aAc	p.S204N		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	204										endometrium(4)|large_intestine(2)|lung(2)	8						GCTAGTATAAGCGTGCGTTCG	0.433																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(610-612)aGc>aAc		chromosome 16 open reading frame 72							190.0	182.0	185.0					16																	9210552		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9210552G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.611G>A	16.37:g.9210552G>A	ENSP00000331720:p.Ser204Asn		Somatic					p.S204N	NM_014117.2	NP_054836.2	WXS	Illumina GAIIx	Phase_I	Q14CZ0	CP072_HUMAN			4	1008	+			204						Missense_Mutation	SNP	ENST00000327827.7	37	c.611G>A	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150126	0.78001	.	.	ENSG00000182831	ENST00000327827	T	0.49139	0.79	5.58	5.58	0.84498	.	0.163442	0.64402	D	0.000002	T	0.70439	0.3224	M	0.73598	2.24	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.72064	-0.4403	10	0.62326	D	0.03	-3.1973	19.569	0.95405	0.0:0.0:1.0:0.0	.	204	Q14CZ0	CP072_HUMAN	N	204	ENSP00000331720:S204N	ENSP00000331720:S204N	S	+	2	0	C16orf72	9118053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.499000	0.66937	2.637000	0.89404	0.585000	0.79938	AGC		0.433	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		6	665	0	0	0	1	0	6	665				
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	8	373	0	0	0	1	0	8	373				
MACROD2	140733	broad.mit.edu	37	20	15948196	15948196	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:15948196A>T	ENST00000310348.4	+	13	907		c.e13-1		MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000217246.4_Splice_Site			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2						brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTGTTGTTAGATTTTGCAA	0.363																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.e13-1		MACRO domain containing 2							99.0	103.0	102.0					20																	15948196		2203	4300	6503	SO:0001630	splice_region_variant	140733							g.chr20:15948196A>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.908-1A>T	20.37:g.15948196A>T			Somatic				MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000310348.4_Splice_Site		NM_080676.5	NP_542407.2	WXS	Illumina GAIIx	Phase_I	A1Z1Q3	MACD2_HUMAN			13	1302	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)						A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37		CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553329	0.27739	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9708	0.58511	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACROD2	15896196	0.998000	0.40836	0.922000	0.36590	0.106000	0.19336	4.691000	0.61738	2.136000	0.66102	0.533000	0.62120	.		0.363	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Intron	6	155	0	0	0	1	0	6	155				
WRN	7486	broad.mit.edu	37	8	30973983	30973983	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:30973983C>T	ENST00000298139.5	+	20	2636	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	796	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACATACCATGCGGGCATGAGT	0.393			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2386-2388)gCg>gTg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							128.0	119.0	122.0					8																	30973983		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30973983C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2387C>T	8.37:g.30973983C>T	ENSP00000298139:p.Ala796Val		Somatic					p.A796V	NM_000553.4	NP_000544.2	WXS	Illumina GAIIx	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	20	2636	+		Breast(100;0.195)	796			Helicase C-terminal.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2387C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981305	0.93044	.	.	ENSG00000165392	ENST00000298139	T	0.05649	3.41	5.66	5.66	0.87406	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68838	-0.5303	10	0.87932	D	0	-20.3066	19.3326	0.94297	0.0:1.0:0.0:0.0	.	206;796	Q59F09;Q14191	.;WRN_HUMAN	V	796	ENSP00000298139:A796V	ENSP00000298139:A796V	A	+	2	0	WRN	31093525	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.196000	0.72094	2.663000	0.90544	0.557000	0.71058	GCG		0.393	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	267	0	0	0	1	0	5	267				
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2791-2793)gtA>gtT		hephaestin-like 1							144.0	143.0	143.0					11																	93837804		1863	4090	5953	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837804A>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2793A>T	11.37:g.93837804A>T			Somatic					p.V931V	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			16	2801	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	931			Plastocyanin-like 6.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2793A>T	CCDS44710.1																																																																																				0.373	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		10	357	0	0	0	1	0	10	357				
ELL2	22936	broad.mit.edu	37	5	95242266	95242266	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:95242266A>T	ENST00000237853.4	-	5	1051	c.702T>A	c.(700-702)aaT>aaA	p.N234K	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	234					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGTCTTTTTGATTGACACCAT	0.468																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(700-702)aaT>aaA		elongation factor, RNA polymerase II, 2							106.0	111.0	110.0					5																	95242266		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95242266A>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.702T>A	5.37:g.95242266A>T	ENSP00000237853:p.Asn234Lys		Somatic				ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	p.N234K	NM_012081.5	NP_036213.2	WXS	Illumina GAIIx	Phase_I	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	5	1051	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	234					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.702T>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316314	0.60524	.	.	ENSG00000118985	ENST00000237853	T	0.28666	1.6	6.08	3.62	0.41486	.	0.128670	0.64402	D	0.000001	T	0.28962	0.0719	L	0.32530	0.975	0.80722	D	1	P	0.47253	0.892	P	0.48368	0.575	T	0.03673	-1.1014	10	0.62326	D	0.03	7.2706	9.221	0.37377	0.7392:0.0:0.2608:0.0	.	234	O00472	ELL2_HUMAN	K	234	ENSP00000237853:N234K	ENSP00000237853:N234K	N	-	3	2	ELL2	95268022	0.991000	0.36638	1.000000	0.80357	0.981000	0.71138	0.675000	0.25232	1.088000	0.41272	0.482000	0.46254	AAT		0.468	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		4	183	0	0	0	1	0	4	183				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A			Somatic				FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	6	159	0	0	0	1	0	6	159				
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1015-1017)caC>caA		zinc finger protein 12							63.0	68.0	66.0					7																	6731556		2196	4299	6495	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731556G>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1017C>A	7.37:g.6731556G>T	ENSP00000385939:p.His339Gln		Somatic				ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|AC073343.13_ENST00000366167.2_RNA	p.H339Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	WXS	Illumina GAIIx	Phase_I	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1558	-		Ovarian(82;0.0776)	339					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1017C>A	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622278	0.28889	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.28454	1.61;1.61;1.61	4.03	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000352	T	0.29288	0.0729	N	0.16478	0.41	0.30000	N	0.816085	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	T	0.18335	-1.0340	10	0.09338	T	0.73	.	8.2228	0.31552	0.2733:0.0:0.7267:0.0	.	339;301	P17014;P17014-5	ZNF12_HUMAN;.	Q	265;339;301;397;303	ENSP00000384405:H265Q;ENSP00000385939:H339Q;ENSP00000344745:H301Q	ENSP00000331039:H303Q	H	-	3	2	ZNF12	6698081	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.025000	0.13577	0.273000	0.22049	0.563000	0.77884	CAC		0.443	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		27	85	1	0	0.00127121	1	0.00135322	27	85				
OR2A25	392138	broad.mit.edu	37	7	143771624	143771624	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:143771624G>T	ENST00000408898.2	+	1	350	c.312G>T	c.(310-312)ttG>ttT	p.L104F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	104						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)					TTCTGTTTTTGAGTTTTGCAC	0.532																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(310-312)ttG>ttT		olfactory receptor, family 2, subfamily A, member 25							88.0	95.0	92.0					7																	143771624		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771624G>T		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.312G>T	7.37:g.143771624G>T	ENSP00000386167:p.Leu104Phe		Somatic					p.L104F	NM_001004488.1	NP_001004488.1	WXS	Illumina GAIIx	Phase_I	A4D2G3	O2A25_HUMAN			1	350	+	Melanoma(164;0.0783)		104					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.312G>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286881	0.40494	.	.	ENSG00000221933	ENST00000408898	T	0.00560	6.6	4.88	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	L	0.56769	1.78	0.09310	N	0.999999	D	0.61697	0.99	P	0.58266	0.836	T	0.52109	-0.8619	9	0.52906	T	0.07	-7.1464	11.3472	0.49567	0.0899:0.0:0.9101:0.0	.	104	A4D2G3	O2A25_HUMAN	F	104	ENSP00000386167:L104F	ENSP00000386167:L104F	L	+	3	2	OR2A25	143402557	0.001000	0.12720	0.568000	0.28447	0.533000	0.34776	0.363000	0.20301	1.244000	0.43870	0.563000	0.77884	TTG		0.532	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			7	418	1	0	1.6384e-10	1	1.75849e-10	7	418				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His		Somatic				HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron	p.R247H			WXS	Illumina GAIIx	Phase_I	Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	21	0	0	0	1	0	3	21				
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	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.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(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)		ACCGATACTTTTCTCCAAATT	0.338		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"""		55	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(3)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(14)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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.(1009-1011)ttT>ttA		phosphatase and tensin homolog							52.0	55.0	54.0					10																	89720860		2203	4299	6502	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.chr10:89720860T>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.1011T>A	10.37:g.89720860T>A	ENSP00000361021:p.Phe337Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.F337L	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)	8	2368	+		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)	337			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1011T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306212	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.86769	-2.17	5.37	1.83	0.25207	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.73962	2.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.67103	0.949	D	0.88493	0.3077	9	.	.	.	0.0365	8.9952	0.36048	0.0:0.3848:0.0:0.6152	.	337	P60484	PTEN_HUMAN	L	337	ENSP00000361021:F337L	.	F	+	3	2	PTEN	89710840	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.461000	0.21940	0.366000	0.24427	-0.353000	0.07706	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		4	93	0	0	0	1	0	4	93				
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1240-1242)gaG>gaC		interleukin 1 receptor-like 2							118.0	113.0	115.0					2																	102849529		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849529G>C	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1242G>C	2.37:g.102849529G>C	ENSP00000264257:p.Glu414Asp		Somatic				IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D	p.E414D	NM_003854.2	NP_003845.2	WXS	Illumina GAIIx	Phase_I	Q9HB29	ILRL2_HUMAN			10	1368	+			414			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1242G>C	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102729	0.56183	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.10005	2.92;2.92;2.92	6.07	5.2	0.72013	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.106321	0.64402	D	0.000007	T	0.38639	0.1048	M	0.91196	3.185	0.41327	D	0.987213	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44221	-0.9342	10	0.87932	D	0	.	9.3919	0.38378	0.2223:0.0:0.7777:0.0	.	296;414	A4FU63;Q9HB29	.;ILRL2_HUMAN	D	414;296;414	ENSP00000264257:E414D;ENSP00000413348:E296D;ENSP00000442184:E414D	ENSP00000264257:E414D	E	+	3	2	IL1RL2	102215961	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	2.498000	0.45363	1.587000	0.49959	-0.136000	0.14681	GAG		0.448	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		47	67	0	0	0	1	0	47	67				
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000546711.1_Missense_Mutation_p.P911T|FGD6_ENST00000549499.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2731-2733)Cca>Aca		FYVE, RhoGEF and PH domain containing 6							118.0	107.0	111.0					12																	95535270		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535270G>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2731C>A	12.37:g.95535270G>T	ENSP00000344446:p.Pro911Thr		Somatic				FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T	p.P911T	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			6	2954	-			911			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2731C>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709621	0.68730	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	3.79	0.43588	Dbl homology (DH) domain (5);	0.147341	0.31797	N	0.007055	T	0.77685	0.4167	M	0.76002	2.32	0.53688	D	0.999978	D	0.71674	0.998	D	0.67382	0.951	T	0.80663	-0.1282	10	0.87932	D	0	-4.419	15.9087	0.79450	0.0:0.2764:0.7236:0.0	.	911	Q6ZV73	FGD6_HUMAN	T	911	ENSP00000344446:P911T;ENSP00000450342:P911T;ENSP00000449005:P911T	ENSP00000344446:P911T	P	-	1	0	FGD6	94059401	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.328000	0.59253	0.686000	0.31488	0.563000	0.77884	CCA		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		28	40	1	0	3.65163e-15	1	4.1553e-15	28	40				
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846					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)					GCACACCTTTGCTCACCTCTA	0.463																																						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.(11536-11538)ttG>ttT		mucin 17, cell surface associated							128.0	114.0	119.0					7																	100686235		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686235G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11538G>T	7.37:g.100686235G>T	ENSP00000302716:p.Leu3846Phe		Somatic					p.L3846F	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	11602	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3846					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11538G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	9.834	1.189161	0.21954	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	1.55	-1.45	0.08828	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.58577	0.841	T	0.40997	-0.9533	9	0.26408	T	0.33	.	1.9845	0.03433	0.2308:0.0:0.464:0.3052	.	3846	Q685J3	MUC17_HUMAN	F	3846	ENSP00000302716:L3846F	ENSP00000302716:L3846F	L	+	3	2	MUC17	100472955	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-2.578000	0.00908	-0.020000	0.14032	0.187000	0.17357	TTG		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		45	97	1	0	6.4771e-29	1	7.91646e-29	45	97				
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A	rs587687865		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106110141G>A	ENST00000390545.2	-	0	476							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m 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)										CCTCCACGCCGTCCACGTACC	0.617													N|||	1	0.000199681	0.0	0.0014	5008	,	,		22764	0.0		0.0	False		,,,				2504	0.0					ENST00000390545.2																			0																				201.0	179.0	186.0					14																	106110141		2178	4269	6447			3501							g.chr14:106110141G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110141G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	476	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.617	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		46	45	0	0	0	1	0	46	45				
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(79-81)ctA>ctT		tRNA nucleotidyl transferase, CCA-adding, 1							115.0	102.0	107.0					3																	3170805		2203	4300	6503	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3170805A>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.81A>T	3.37:g.3170805A>T			Somatic				TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L	p.L27L	NM_182916.2	NP_886552.2	WXS	Illumina GAIIx	Phase_I	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	2	183	+			27					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.81A>T	CCDS2561.2																																																																																				0.488	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			40	114	0	0	0	1	0	40	114				
FAM35A	54537	broad.mit.edu	37	10	88946959	88946959	+	Splice_Site	SNP	T	T	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:88946959T>G	ENST00000298784.1	+	8	2422		c.e8+2		FAM35A_ENST00000298786.4_Splice_Site	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A											endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GAGTGATAGGTAATATATCAG	0.368																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.e9+2		family with sequence similarity 35, member A							85.0	73.0	77.0					10																	88946959		2203	4297	6500	SO:0001630	splice_region_variant	54537							g.chr10:88946959T>G	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2308+2T>G	10.37:g.88946959T>G			Somatic				FAM35A_ENST00000298784.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q86V20	FA35A_HUMAN			9	2629	+								O95885|Q9H991	Splice_Site	SNP	ENST00000298784.1	37		CCDS7383.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.582282	0.65992	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313;ENST00000342900	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8271	0.52273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM35A	88936939	1.000000	0.71417	0.717000	0.30585	0.640000	0.38277	4.875000	0.63072	1.447000	0.47661	0.163000	0.16589	.		0.368	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	Intron	4	52	0	0	0	1	0	4	52				
MT-ND2	4536	broad.mit.edu	37	M	2828	2828	+	5'Flank	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:2828G>A	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						GGCGACCTCGGAGCAGAACCC	0.428																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2828G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2828G>A	Exception_encountered		Somatic						NR_039705.1		WXS	Illumina GAIIx	Phase_I					0	1158	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.428	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		78	199	0	0	0	1	0	78	199				
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAAGCTGGAACGGCTGGATAT	0.483																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(838-840)Cgg>Agg		fibronectin leucine rich transmembrane protein 2							161.0	164.0	163.0					14																	86088696		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088696C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.838C>A	14.37:g.86088696C>A			Somatic				FLRT2_ENST00000554746.1_Silent_p.R280R	p.R280R	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1605	+			280					A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.838C>A	CCDS9877.1																																																																																				0.483	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			145	49	1	0	9.15414e-77	1	1.16187e-76	145	49				
MT-ND6	4541	broad.mit.edu	37	M	14423	14423	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:14423G>A	ENST00000361681.2	-	1	250	c.251C>T	c.(250-252)tCa>tTa	p.S84L	MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	84					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCTCAACCCCTGACCCCCATG	0.453																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(250-252)tCa>tTa		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14423G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.251C>T	M.37:g.14423G>A	ENSP00000354665:p.Ser84Leu		Somatic					p.S84L			WXS	Illumina GAIIx	Phase_I					1	250	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.251C>T																																																																																					0.453	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		30	334	0	0	0	1	0	30	334				
MT-CYB	4519	broad.mit.edu	37	M	15077	15077	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:15077G>A	ENST00000361789.2	+	1	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	111					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TTCTCTACTCAGAAACCTGAA	0.483											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(331-333)Gaa>Aaa		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15077G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.331G>A	M.37:g.15077G>A	ENSP00000354554:p.Glu111Lys		Somatic	OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.111_111insK			WXS	Illumina GAIIx	Phase_I					1	331	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.331G>A																																																																																					0.483	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		13	272	0	0	0	1	0	13	272				
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	G	A	rs112126661		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32725572G>A	ENST00000437316.2	-	4	798	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.I245I			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	249					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(733-735)atC>atT		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725572G>A	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.735C>T	6.37:g.32725572G>A			Somatic				HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron	p.I245I			WXS	Illumina GAIIx	Phase_I	Q5SR06	Q5SR06_HUMAN			4	796	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.735C>T																																																																																					0.557	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	22	0	0	0	1	0	3	22				
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	SYNJ2BP_ENST00000554216.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	28	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522																																						ENST00000256366.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(82-84)gtC>gtT		synaptojanin 2 binding protein							56.0	54.0	55.0					14																	70855304		2203	4300	6503	SO:0001819	synonymous_variant	55333							g.chr14:70855304G>A	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.84C>T	14.37:g.70855304G>A			Somatic				SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA	p.V28V	NM_018373.2	NP_060843.2	WXS	Illumina GAIIx	Phase_I				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	2	165	-								Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	c.84C>T	CCDS9803.1																																																																																				0.522	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		4	19	0	0	0	1	0	4	19				
MT-ND2	4536	broad.mit.edu	37	M	1748	1748	+	5'Flank	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:1748G>A	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AATAAAGTATAGGCGATAGAA	0.408																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:1748G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1748G>A	Exception_encountered		Somatic						NR_039705.1		WXS	Illumina GAIIx	Phase_I					0	78	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.408	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		34	207	0	0	0	1	0	34	207				
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T	rs371619496		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2191-2193)gGt>gAt		SPHK1 interactor, AKAP domain containing		C	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	166.0	151.0	156.0		2192,2192	4.7	0.0	2		156	0,8600		0,0,4300	no	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	94,94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	731/1701,731/1672	228883378	1,13005	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883378C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2192G>A	2.37:g.228883378C>T	ENSP00000375909:p.Gly731Asp		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	p.G731D	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2238	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	731					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2192G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	2.27E-4	0.0	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	5.61	4.73	0.59995	.	0.384553	0.31897	N	0.006889	T	0.16854	0.0405	M	0.61703	1.905	0.09310	N	1	P;B	0.49635	0.926;0.441	P;B	0.44597	0.454;0.185	T	0.13229	-1.0517	10	0.25751	T	0.34	.	10.4997	0.44798	0.0:0.8349:0.0:0.1651	.	731;731	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	731	ENSP00000375909:G731D;ENSP00000339886:G731D	ENSP00000339886:G731D	G	-	2	0	SPHKAP	228591622	0.001000	0.12720	0.004000	0.12327	0.072000	0.16883	1.500000	0.35682	1.506000	0.48736	0.655000	0.94253	GGT		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	187	0	0	0	1	0	7	187				
BRDT	676	broad.mit.edu	37	1	92430268	92430268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:92430268G>T	ENST00000362005.3	+	4	695	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000370389.2_Nonsense_Mutation_p.E20*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	93	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAGGCTTCAGAATGTATAGA	0.279																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(58-60)Gaa>Taa		bromodomain, testis-specific							35.0	38.0	37.0					1																	92430268		2189	4277	6466	SO:0001587	stop_gained	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430268G>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.277G>T	1.37:g.92430268G>T	ENSP00000354568:p.Glu93*		Somatic				BRDT_ENST00000362005.3_Nonsense_Mutation_p.E93*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93*	p.E20*	NM_001242810.1	NP_001229739.1	WXS	Illumina GAIIx	Phase_I	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	982	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	93					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	c.58G>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489616	0.84962	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	.	.	.	5.43	4.52	0.55395	.	0.074758	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.3072	13.9878	0.64345	0.074:0.0:0.926:0.0	.	.	.	.	X	93;20;93;93;93;93;93;93;93;93;93;20;93	.	ENSP00000354568:E93X	E	+	1	0	BRDT	92202856	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.362000	0.66098	1.316000	0.45131	0.650000	0.86243	GAA		0.279	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		3	37	1	0	1	1	1	3	37				
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3463-3465)ttG>ttT		autism susceptibility candidate 2							38.0	43.0	41.0					7																	70255667		2203	4299	6502	SO:0001583	missense	26053							g.chr7:70255667G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3465G>T	7.37:g.70255667G>T	ENSP00000344087:p.Leu1155Phe		Somatic				AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	p.L1155F	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3786	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1155			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3465G>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513129	0.64522	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.44482	0.97;0.92	4.62	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.53997	0.1831	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.51220	-0.8733	9	.	.	.	-16.9882	7.7553	0.28921	0.0817:0.0:0.7548:0.1636	.	607;1131;1155	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	1131;1155	ENSP00000385263:L1131F;ENSP00000344087:L1155F	.	L	+	3	2	AUTS2	69893603	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.310000	0.51911	1.144000	0.42321	0.655000	0.94253	TTG		0.692	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			17	76	1	0	2.48551e-13	1	2.73406e-13	17	76				
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107592482G>C	ENST00000222399.6	-	23	3496	c.3266C>G	c.(3265-3267)gCt>gGt	p.A1089G	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1113G	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12. {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						GAAGGAATGAGCAGCATTGCA	0.567																																						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.(3337-3339)gCt>gGt		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						57.0	42.0	47.0					7																	107592482		2203	4300	6503	SO:0001583	missense	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.chr7:107592482G>C	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.3266C>G	7.37:g.107592482G>C	ENSP00000222399:p.Ala1089Gly		Somatic				LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G	p.A1113G			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			21	3522	-			1089			Laminin EGF-like 12.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3338C>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571707	0.13623	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.62105	0.05;0.05	4.93	0.837	0.18896	EGF-like, laminin (3);	.	.	.	.	T	0.51075	0.1653	L	0.50919	1.6	0.18873	N	0.999988	B;B	0.23650	0.04;0.089	B;B	0.26969	0.063;0.075	T	0.38200	-0.9672	9	0.23891	T	0.37	.	6.4453	0.21873	0.1399:0.0:0.3551:0.505	.	1089;1113	P07942;G3XAI2	LAMB1_HUMAN;.	G	1113;1089	ENSP00000377191:A1113G;ENSP00000222399:A1089G	ENSP00000222399:A1089G	A	-	2	0	LAMB1	107379718	0.000000	0.05858	0.002000	0.10522	0.437000	0.31866	0.727000	0.25999	0.036000	0.15547	-0.274000	0.10170	GCT		0.567	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		24	26	0	0	0	1	0	24	26				
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T	rs565938595	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455T|SLC22A6_ENST00000421062.2_Splice_Site_p.A455T|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACAGTGACAGCGCTGGCGGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15785	0.0		0.0	False		,,,				2504	0.0					ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1495-1497)Gct>Act		solute carrier family 22 (organic anion transporter), member 6							75.0	71.0	72.0					11																	62744726		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744726C>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1495G>A	11.37:g.62744726C>T	ENSP00000367102:p.Ala499Thr		Somatic				SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T	p.A499T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	WXS	Illumina GAIIx	Phase_I	Q4U2R8	S22A6_HUMAN			9	1761	-			499					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1495G>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325294	0.10900	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.73258	-0.73;-0.73;0.09;0.09	4.48	1.62	0.23740	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.508642	0.22012	N	0.065853	T	0.64338	0.2589	M	0.73430	2.235	0.09310	N	1	B;B;B;B	0.21688	0.021;0.012;0.059;0.027	B;B;B;B	0.16289	0.014;0.009;0.015;0.009	T	0.52480	-0.8570	10	0.28530	T	0.3	.	7.7515	0.28901	0.0:0.7191:0.0:0.2809	.	455;455;499;499	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	T	499;478;499;455;455	ENSP00000353597:A499T;ENSP00000367102:A499T;ENSP00000396401:A455T;ENSP00000404441:A455T	ENSP00000353597:A499T	A	-	1	0	SLC22A6	62501302	0.000000	0.05858	0.029000	0.17559	0.168000	0.22595	-0.191000	0.09601	0.163000	0.19507	-0.258000	0.10820	GCT		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		51	69	0	0	0	1	0	51	69				
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000391982.2_Silent_p.G349G	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1045-1047)ggC>ggA		calpain 10							52.0	58.0	56.0					2																	241534490		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534490C>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1047C>A	2.37:g.241534490C>A			Somatic				CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron	p.G349G	NM_023083.3	NP_075571.1	WXS	Illumina GAIIx	Phase_I	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	7	1243	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	349			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1047C>A	CCDS42838.1																																																																																				0.632	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		42	40	1	0	7.63091e-17	1	8.99357e-17	42	40				
PFKP	5214	broad.mit.edu	37	10	3172134	3172134	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:3172134G>A	ENST00000381125.4	+	17	1883	c.1807G>A	c.(1807-1809)Gca>Aca	p.A603T	PFKP_ENST00000381072.1_Missense_Mutation_p.A21T|PFKP_ENST00000381075.2_Missense_Mutation_p.A595T	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	603	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGCTGATGCCGCATACATTTT	0.647																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1783-1785)Gca>Aca		phosphofructokinase, platelet							46.0	43.0	44.0					10																	3172134		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3172134G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1807G>A	10.37:g.3172134G>A	ENSP00000370517:p.Ala603Thr		Somatic				PFKP_ENST00000381072.1_Missense_Mutation_p.A21T|PFKP_ENST00000381125.4_Missense_Mutation_p.A603T	p.A595T	NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	19	2007	+			603					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1783G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	17.71	3.457754	0.63401	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80566	-1.39;-1.39;-1.39	4.33	4.33	0.51752	Phosphofructokinase domain (2);	0.057901	0.64402	D	0.000002	D	0.88695	0.6506	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.979;0.943	D	0.90535	0.4498	10	0.87932	D	0	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	595;595;603	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	T	603;592;595;21	ENSP00000370517:A603T;ENSP00000370465:A595T;ENSP00000370462:A21T	ENSP00000370462:A21T	A	+	1	0	PFKP	3162134	1.000000	0.71417	0.312000	0.25196	0.001000	0.01503	9.605000	0.98321	1.958000	0.56883	0.462000	0.41574	GCA		0.647	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		4	95	0	0	0	1	0	4	95				
TDRD1	56165	broad.mit.edu	37	10	115973808	115973808	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:115973808T>C	ENST00000369280.1	+	16	2607	c.2147T>C	c.(2146-2148)gTa>gCa	p.V716A	TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000251864.2_Missense_Mutation_p.V716A			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	716					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GACCAAACAGTAGATGTTGTG	0.363																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2146-2148)gTa>gCa		tudor domain containing 1							279.0	257.0	265.0					10																	115973808		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115973808T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2147T>C	10.37:g.115973808T>C	ENSP00000358286:p.Val716Ala		Somatic				TDRD1_ENST00000369280.1_Missense_Mutation_p.V716A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A	p.V716A	NM_198795.1	NP_942090.1	WXS	Illumina GAIIx	Phase_I	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	16	2300	+		Colorectal(252;0.172)|Breast(234;0.188)	716					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2147T>C		.	.	.	.	.	.	.	.	.	.	T	17.70	3.454608	0.63290	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.47	5.47	0.80525	Maternal tudor protein (1);	0.367476	0.28279	N	0.015929	T	0.32912	0.0845	M	0.85777	2.775	0.09310	N	0.999993	D;D;D;D;P	0.58268	0.967;0.982;0.977;0.977;0.95	P;P;P;P;P	0.61275	0.886;0.772;0.741;0.641;0.631	T	0.26052	-1.0114	10	0.40728	T	0.16	-9.4495	13.2856	0.60241	0.0:0.0:0.0:1.0	.	320;716;659;716;659	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	A	716;716;659;320;716	ENSP00000358288:V716A;ENSP00000251864:V716A;ENSP00000358287:V659A;ENSP00000402794:V320A;ENSP00000358286:V716A	ENSP00000251864:V716A	V	+	2	0	TDRD1	115963798	0.965000	0.33210	0.529000	0.27951	0.937000	0.57800	4.046000	0.57376	2.063000	0.61619	0.460000	0.39030	GTA		0.363	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			4	140	0	0	0	1	0	4	140				
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(730-732)agC>agA		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							57.0	53.0	54.0					11																	45671742		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671742G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.732C>A	11.37:g.45671742G>T	ENSP00000309270:p.Ser244Arg		Somatic					p.S244R	NM_003654.5	NP_003645.1	WXS	Illumina GAIIx	Phase_I	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1402	-			244					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.732C>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410234	0.42715	.	.	ENSG00000175264	ENST00000308064	D	0.82619	-1.63	4.98	2.06	0.26882	Sulfotransferase domain (1);	0.147583	0.64402	D	0.000011	T	0.71787	0.3381	N	0.19112	0.55	0.40176	D	0.977238	P	0.47910	0.902	P	0.47402	0.546	T	0.63941	-0.6523	10	0.15952	T	0.53	-8.5739	8.7652	0.34698	0.4721:0.0:0.5279:0.0	.	244	O43916	CHST1_HUMAN	R	244	ENSP00000309270:S244R	ENSP00000309270:S244R	S	-	3	2	CHST1	45628318	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.708000	0.25719	0.147000	0.19030	0.462000	0.41574	AGC		0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		7	124	1	0	0.00198382	1	0.00204581	7	124				
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(883-885)Tgc>Ggc		secreted frizzled-related protein 2							76.0	69.0	71.0					4																	154702608		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702608A>C	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.883T>G	4.37:g.154702608A>C	ENSP00000274063:p.Cys295Gly		Somatic					p.C295G	NM_003013.2	NP_003004.1	WXS	Illumina GAIIx	Phase_I	Q96HF1	SFRP2_HUMAN			3	1167	-	all_hematologic(180;0.093)	Renal(120;0.117)	295			NTR.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.883T>G	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754815	0.69648	.	.	ENSG00000145423	ENST00000274063	D	0.84146	-1.81	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92900	0.6338	10	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	295	Q96HF1	SFRP2_HUMAN	G	295	ENSP00000274063:C295G	ENSP00000274063:C295G	C	-	1	0	SFRP2	154922058	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.513000	0.90542	2.268000	0.75426	0.533000	0.62120	TGC		0.617	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			29	46	0	0	0	1	0	29	46				
MTHFD1L	25902	broad.mit.edu	37	6	151277140	151277140	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:151277140C>A	ENST00000367321.3	+	17	2010	c.1736C>A	c.(1735-1737)aCa>aAa	p.T579K		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	579	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTATTGGATACAAATGACCGA	0.483																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1735-1737)aCa>aAa		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							96.0	93.0	94.0					6																	151277140		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151277140C>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1736C>A	6.37:g.151277140C>A	ENSP00000356290:p.Thr579Lys		Somatic					p.T579K	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	WXS	Illumina GAIIx	Phase_I	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	17	2010	+		Ovarian(120;0.128)	579			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1736C>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214285	0.58452	.	.	ENSG00000120254	ENST00000367321	T	0.22743	1.94	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	M	0.93638	3.44	0.80722	D	1	D;P;D	0.54397	0.957;0.572;0.966	P;P;P	0.53689	0.705;0.649;0.732	T	0.59690	-0.7407	10	0.72032	D	0.01	.	19.9544	0.97215	0.0:1.0:0.0:0.0	.	580;334;579	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	K	579	ENSP00000356290:T579K	ENSP00000356290:T579K	T	+	2	0	MTHFD1L	151318833	1.000000	0.71417	0.756000	0.31282	0.007000	0.05969	7.217000	0.77982	2.822000	0.97130	0.557000	0.71058	ACA		0.483	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		8	82	1	0	0.335167	1	0.335167	8	82				
SLC5A10	125206	broad.mit.edu	37	17	18918498	18918498	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:18918498C>T	ENST00000395645.3	+	11	1245	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395642.1_Silent_p.L342L|SLC5A10_ENST00000317977.6_Silent_p.L342L	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	409					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGCGGGAGCTCCTGCTGGTGG	0.657																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1024-1026)ctC>ctT		solute carrier family 5 (sodium/sugar cotransporter), member 10							18.0	17.0	17.0					17																	18918498		2201	4295	6496	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18918498C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1227C>T	17.37:g.18918498C>T			Somatic				SLC5A10_ENST00000395645.3_Silent_p.L409L|SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395642.1_Silent_p.L342L	p.L342L			WXS	Illumina GAIIx	Phase_I	A0PJK1	SC5AA_HUMAN			10	1597	+			409					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.1026C>T	CCDS42275.1																																																																																				0.657	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		3	51	0	0	0	1	0	3	51				
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000533515.1_5'Flank|SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e13-2		solute carrier family 43 (amino acid system L transporter), member 1							137.0	127.0	131.0					11																	57256464		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256464T>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1336-2A>T	11.37:g.57256464T>A			Somatic				SLC43A1_ENST00000528450.1_Splice_Site		NM_003627.5	NP_003618.1	WXS	Illumina GAIIx	Phase_I	O75387	LAT3_HUMAN			13	1691	-									Splice_Site	SNP	ENST00000278426.3	37		CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983519	0.35036	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57013040	1.000000	0.71417	0.943000	0.38184	0.132000	0.20833	7.249000	0.78278	1.819000	0.53055	0.528000	0.53228	.		0.532	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	10	257	0	0	0	1	0	10	257				
OMP	4975	broad.mit.edu	37	11	76814108	76814108	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:76814108C>T	ENST00000529803.1	+	1	223	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	75					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGGACAAGCCGGGCAAGGT	0.622																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(223-225)Ccg>Tcg		olfactory marker protein							52.0	63.0	60.0					11																	76814108		2184	4267	6451	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814108C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.223C>T	11.37:g.76814108C>T	ENSP00000436376:p.Pro75Ser		Somatic				CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron	p.P75S	NM_006189.1	NP_006180.1	WXS	Illumina GAIIx	Phase_I	P47874	OMP_HUMAN			1	223	+			75					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.223C>T	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	7.358	0.624304	0.14193	.	.	ENSG00000254550	ENST00000529803	T	0.33438	1.41	5.81	2.57	0.30868	.	.	.	.	.	T	0.24470	0.0593	L	0.29908	0.895	0.25467	N	0.987867	B	0.12013	0.005	B	0.14578	0.011	T	0.21075	-1.0256	9	0.49607	T	0.09	.	13.0473	0.58933	0.0:0.5917:0.3382:0.07	.	75	P47874	OMP_HUMAN	S	75	ENSP00000436376:P75S	ENSP00000436376:P75S	P	+	1	0	OMP	76491756	0.731000	0.28111	0.992000	0.48379	0.333000	0.28666	1.528000	0.35985	0.750000	0.32877	0.462000	0.41574	CCG		0.622	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		3	47	0	0	0	1	0	3	47				
PRIM2	5558	broad.mit.edu	37	6	57372286	57372286	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:57372286A>T	ENST00000389488.2	+	8	780		c.e8-1		PRIM2_ENST00000607273.1_Splice_Site			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCCTGCTTTTAGTTAACAGCC	0.428																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.e8-1		primase, DNA, polypeptide 2 (58kDa)							137.0	122.0	127.0					6																	57372286		1921	4139	6060	SO:0001630	splice_region_variant	5558				DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57372286A>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.781-1A>T	6.37:g.57372286A>T			Somatic				PRIM2_ENST00000389488.2_Splice_Site		NM_000947.2	NP_000938.2	WXS	Illumina GAIIx	Phase_I	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	8	780	+								Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	SNP	ENST00000389488.2	37																																																																																						0.428	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	Intron	5	142	0	0	0	1	0	5	142				
SEC23B	10483	broad.mit.edu	37	20	18534919	18534919	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:18534919C>A	ENST00000336714.3	+	18	2465	c.2033C>A	c.(2032-2034)cCc>cAc	p.P678H	SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	678					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CAGGACATGCCCGAGTATGAA	0.483																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(2032-2034)cCc>cAc		Sec23 homolog B (S. cerevisiae)							146.0	115.0	125.0					20																	18534919		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18534919C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2033C>A	20.37:g.18534919C>A	ENSP00000338844:p.Pro678His		Somatic				SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H	p.P678H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	WXS	Illumina GAIIx	Phase_I	Q15437	SC23B_HUMAN			18	2465	+			678					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.2033C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539003	0.85917	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	4.69	4.69	0.59074	Gelsolin domain (1);	0.102095	0.64402	D	0.000002	D	0.97306	0.9119	M	0.92507	3.315	0.80722	D	1	D;P	0.65815	0.995;0.499	D;P	0.67900	0.954;0.472	D	0.98185	1.0459	10	0.87932	D	0	-19.1694	17.1327	0.86730	0.0:1.0:0.0:0.0	.	660;678	B4DJW8;Q15437	.;SC23B_HUMAN	H	678;678;678;678;157	ENSP00000338844:P678H;ENSP00000262544:P678H;ENSP00000366695:P678H;ENSP00000366685:P678H;ENSP00000409882:P157H	ENSP00000262544:P678H	P	+	2	0	SEC23B	18482919	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	7.609000	0.82925	2.588000	0.87417	0.655000	0.94253	CCC		0.483	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			11	725	1	0	2.27111e-07	1	2.5464e-07	11	725				
SGMS1	259230	broad.mit.edu	37	10	52067829	52067829	+	Silent	SNP	C	C	T	rs369757236	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:52067829C>T	ENST00000361781.2	-	10	1934	c.975G>A	c.(973-975)gcG>gcA	p.A325A	SGMS1_ENST00000429490.1_Silent_p.A156A	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	331					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTGGTCATGCGCTAAGAGAA	0.507													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18793	0.0		0.0	False		,,,				2504	0.001					ENST00000361781.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(973-975)gcG>gcA		sphingomyelin synthase 1		C		1,4405	2.1+/-5.4	0,1,2202	137.0	127.0	131.0		975	-0.1	1.0	10		131	0,8600		0,0,4300	no	coding-synonymous	SGMS1	NM_147156.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		325/414	52067829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52067829C>T	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.975G>A	10.37:g.52067829C>T			Somatic				SGMS1_ENST00000429490.1_Silent_p.A156A	p.A325A	NM_147156.3	NP_671512.1	WXS	Illumina GAIIx	Phase_I	Q86VZ5	SMS1_HUMAN			10	1934	-			331					Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	c.975G>A	CCDS7240.1																																																																																				0.507	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		5	321	0	0	0	1	0	5	321				
TRPC4	7223	broad.mit.edu	37	13	38211143	38211143	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:38211143A>T	ENST00000379705.3	-	11	3688	c.2831T>A	c.(2830-2832)aTa>aAa	p.I944K	TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	944	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCCTTTGGTATTATAGGAAC	0.453																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2830-2832)aTa>aAa		transient receptor potential cation channel, subfamily C, member 4							164.0	143.0	150.0					13																	38211143		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211143A>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2831T>A	13.37:g.38211143A>T	ENSP00000369027:p.Ile944Lys		Somatic				TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K	p.I944K			WXS	Illumina GAIIx	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3688	-			944			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2831T>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.498997	0.26861	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.72942	-0.18;-0.18;0.01;0.01;0.1;-0.46;-0.7;0.1	5.72	4.54	0.55810	.	0.326340	0.30159	N	0.010261	T	0.64182	0.2575	N	0.08118	0	0.80722	D	1	B;B;P;B;B;B	0.48694	0.027;0.065;0.914;0.144;0.185;0.089	B;B;P;B;B;B	0.61328	0.01;0.015;0.887;0.06;0.034;0.017	T	0.67154	-0.5742	10	0.56958	D	0.05	-25.2989	7.8502	0.29451	0.8575:0.0:0.1425:0.0	.	803;795;949;771;860;944	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	944;949;771;771;803;860;795;803	ENSP00000369027:I944K;ENSP00000369003:I949K;ENSP00000342580:I771K;ENSP00000369001:I771K;ENSP00000348025:I803K;ENSP00000351264:I860K;ENSP00000368995:I795K;ENSP00000414316:I803K	ENSP00000342580:I771K	I	-	2	0	TRPC4	37109143	0.961000	0.32948	0.928000	0.36995	0.451000	0.32288	3.145000	0.50623	2.311000	0.77944	0.533000	0.62120	ATA		0.453	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		5	326	0	0	0	1	0	5	326				
UBC	7316	broad.mit.edu	37	12	125397952	125397952	+	Silent	SNP	G	G	A	rs544951317	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:125397952G>A	ENST00000538617.1	-	3	682	c.366C>T	c.(364-366)gcC>gcT	p.A122A	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000536769.1_Silent_p.A122A|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.A122A|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	502	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTGCTTTCCGGCAAAGATCA	0.547													-|||	2	0.000399361	0.0	0.0	5008	,	,		28169	0.002		0.0	False		,,,				2504	0.0					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(364-366)gcC>gcT		ubiquitin C							152.0	144.0	147.0					12																	125397952		2203	4298	6501	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397952G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.366C>T	12.37:g.125397952G>A			Somatic				UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.A122A|UBC_ENST00000339647.5_Silent_p.A122A	p.A122A			WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1942	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		122			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.366C>T																																																																																					0.547	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		19	465	0	0	0	1	0	19	465				
PCDHGA2	56113	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	248	Cadherin 3. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(742-744)cGc>cAc									77.0	78.0	77.0					5																	140719281		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140719281G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.743G>A	5.37:g.140719281G>A	ENSP00000378077:p.Arg248His		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.R248H	NM_018915.2	NP_061738.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	743	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.743G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	5.530	0.282755	0.10458	.	.	ENSG00000081853	ENST00000394576	T	0.01767	4.65	5.26	0.19	0.15125	Cadherin (4);Cadherin-like (1);	1.220540	0.06134	N	0.671214	T	0.02688	0.0081	L	0.58925	1.835	0.09310	N	1	B;B	0.24426	0.059;0.103	B;B	0.26969	0.021;0.075	T	0.46386	-0.9195	10	0.40728	T	0.16	.	5.2025	0.15273	0.4645:0.2358:0.2997:0.0	.	248;248	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	248	ENSP00000378077:R248H	ENSP00000378077:R248H	R	+	2	0	PCDHGA2	140699465	0.000000	0.05858	0.992000	0.48379	0.024000	0.10985	-1.264000	0.02847	0.325000	0.23359	-0.140000	0.14226	CGC		0.557	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	223	0	0	0	1	0	4	223				
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:2876174T>A	ENST00000520002.1	-	53	8414		c.e53-2		CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.e53-2		CUB and Sushi multiple domains 1							88.0	85.0	86.0					8																	2876174		1863	4099	5962	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2876174T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7859-2A>T	8.37:g.2876174T>A			Somatic				CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8414	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37			.	.	.	.	.	.	.	.	.	.	T	14.05	2.420236	0.42918	.	.	ENSG00000183117	ENST00000335551;ENST00000520002;ENST00000318252;ENST00000537824	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9954	0.71428	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2863581	1.000000	0.71417	0.703000	0.30354	0.290000	0.27261	7.785000	0.85724	2.001000	0.58596	0.533000	0.62120	.		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	7	222	0	0	0	1	0	7	222				
FBXL3	26224	broad.mit.edu	37	13	77581635	77581635	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:77581635G>A	ENST00000355619.5	-	5	1256	c.932C>T	c.(931-933)aCc>aTc	p.T311I	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	311					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GTACAGATGGGTGGCAGGTAT	0.408																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(931-933)aCc>aTc		F-box and leucine-rich repeat protein 3							97.0	86.0	90.0					13																	77581635		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581635G>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.932C>T	13.37:g.77581635G>A	ENSP00000347834:p.Thr311Ile		Somatic				FBXL3_ENST00000477982.1_Intron	p.T311I	NM_012158.2	NP_036290.1	WXS	Illumina GAIIx	Phase_I	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1256	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	311					B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.932C>T	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266462	0.80358	.	.	ENSG00000005812	ENST00000355619	T	0.24723	1.84	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51196	-0.8736	10	0.66056	D	0.02	-12.7746	20.5407	0.99260	0.0:0.0:1.0:0.0	.	311	Q9UKT7	FBXL3_HUMAN	I	311	ENSP00000347834:T311I	ENSP00000347834:T311I	T	-	2	0	FBXL3	76479636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	ACC		0.408	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			5	99	0	0	0	1	0	5	99				
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	SYNJ2BP_ENST00000554216.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	28	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522																																						ENST00000256366.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(82-84)gtC>gtT		synaptojanin 2 binding protein							56.0	54.0	55.0					14																	70855304		2203	4300	6503	SO:0001819	synonymous_variant	55333							g.chr14:70855304G>A	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.84C>T	14.37:g.70855304G>A			Somatic				SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA	p.V28V	NM_018373.2	NP_060843.2	WXS	Illumina GAIIx	Phase_I				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	2	165	-								Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	c.84C>T	CCDS9803.1																																																																																				0.522	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		16	39	0	0	0	1	0	16	39				
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e12-2		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							157.0	150.0	152.0					8																	53077787		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53077787T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-2A>T	8.37:g.53077787T>A			Somatic						NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			12	1888	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797320	0.90538	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST18	53240340	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	7.903000	0.87398	2.255000	0.74692	0.533000	0.62120	.		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	6	387	0	0	0	1	0	6	387				
IGHV3-48	28424	broad.mit.edu	37	14	106994250	106994250	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106994250G>A	ENST00000390624.2	-	0	96									immunoglobulin heavy variable 3-48																		GGAAAACCCAGCACAGCCCCA	0.473																																						ENST00000390624.2																			0																				191.0	180.0	183.0					14																	106994250		1898	4119	6017			28424							g.chr14:106994250G>A	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106994250G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	96	-									RNA	SNP	ENST00000390624.2	37																																																																																						0.473	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		4	395	0	0	0	1	0	4	395				
CYP2A13	1553	broad.mit.edu	37	19	41596049	41596049	+	Silent	SNP	A	A	G	rs571383026		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:41596049A>G	ENST00000330436.3	+	3	441	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	147					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCATCGAGGAACGCATCCAGG	0.697													a|||	1	0.000199681	0.0	0.0	5008	,	,		12278	0.0		0.0	False		,,,				2504	0.001					ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(439-441)gaA>gaG		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						32.0	33.0	32.0					19																	41596049		2202	4300	6502	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596049A>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.441A>G	19.37:g.41596049A>G			Somatic					p.E147E	NM_000766.4	NP_000757.2	WXS	Illumina GAIIx	Phase_I	Q16696	CP2AD_HUMAN			3	441	+			147					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.441A>G	CCDS12571.1																																																																																				0.697	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		3	141	0	0	0	1	0	3	141				
SYNRG	11276	broad.mit.edu	37	17	35879085	35879085	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:35879085G>T	ENST00000339208.6	-	22	4043	c.3903C>A	c.(3901-3903)gtC>gtA	p.V1301V	SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000346661.4_Silent_p.V1289V|SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000345615.4_Silent_p.V1211V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1301					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTTGGTTCGACACAGTTGA	0.517																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3901-3903)gtC>gtA		synergin, gamma							209.0	203.0	205.0					17																	35879085		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35879085G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3903C>A	17.37:g.35879085G>T			Somatic				SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000345615.4_Silent_p.V1211V|SYNRG_ENST00000346661.4_Silent_p.V1289V	p.V1301V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina GAIIx	Phase_I	Q9UMZ2	SYNRG_HUMAN			22	4043	-			1301					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3903C>A	CCDS11321.1																																																																																				0.517	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		41	595	1	0	1.7489e-18	1	2.03809e-18	41	595				
CEACAM5	1048	broad.mit.edu	37	19	42221515	42221515	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:42221515C>T	ENST00000221992.6	+	5	1214	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	367	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCGGTCAGTCCCAGGCTGCAG	0.498																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1099-1101)cCc>cTc		carcinoembryonic antigen-related cell adhesion molecule 5							193.0	178.0	183.0					19																	42221515		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42221515C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1100C>T	19.37:g.42221515C>T	ENSP00000221992:p.Pro367Leu		Somatic				CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L	p.P367L	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	5	1214	+			367			Ig-like 4.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1100C>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773837	0.16051	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.66815	-0.23;-0.23	2.11	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63861	0.2547	M	0.77616	2.38	0.09310	N	1	B;B	0.28233	0.204;0.004	B;B	0.32342	0.139;0.144	T	0.61148	-0.7121	9	0.72032	D	0.01	.	8.2266	0.31572	0.7295:0.2705:0.0:0.0	.	367;367	P06731;Q53G30	CEAM5_HUMAN;.	L	367	ENSP00000221992:P367L;ENSP00000385072:P367L	ENSP00000221992:P367L	P	+	2	0	CEACAM5	46913355	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.893000	0.04127	-0.866000	0.04068	-0.532000	0.04303	CCC		0.498	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		5	610	0	0	0	1	0	5	610				
SCGB1D4	404552	broad.mit.edu	37	11	62065065	62065065	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62065065C>T	ENST00000358585.1	-	2	174	c.121G>A	c.(121-123)Gcg>Acg	p.A41T		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	41						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						AGGTTTACCGCAGCGTCACTT	0.438																																						ENST00000358585.1																			0				lung(1)|prostate(1)	2						c.(121-123)Gcg>Acg		secretoglobin, family 1D, member 4							137.0	142.0	140.0					11																	62065065		2202	4299	6501	SO:0001583	missense	404552					extracellular region	binding	g.chr11:62065065C>T	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.121G>A	11.37:g.62065065C>T	ENSP00000351395:p.Ala41Thr		Somatic					p.A41T	NM_206998.1	NP_996881.1	WXS	Illumina GAIIx	Phase_I	Q6XE38	SG1D4_HUMAN			2	174	-			41					A1L4Q8	Missense_Mutation	SNP	ENST00000358585.1	37	c.121G>A	CCDS31583.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.240833	0.00274	.	.	ENSG00000197745	ENST00000358585	T	0.13657	2.57	1.64	-3.27	0.05048	.	32.578500	0.00357	N	0.000029	T	0.09247	0.0228	.	.	.	0.09310	N	1	B	0.28820	0.224	B	0.25614	0.062	T	0.18304	-1.0341	9	0.26408	T	0.33	.	3.7174	0.08444	0.1229:0.5263:0.214:0.1368	.	41	Q6XE38	SG1D4_HUMAN	T	41	ENSP00000351395:A41T	ENSP00000351395:A41T	A	-	1	0	SCGB1D4	61821641	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.508000	0.00020	-4.258000	0.00061	-3.049000	0.00069	GCG		0.438	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	NM_206998		5	425	0	0	0	1	0	5	425				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000455934.2_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	44	0	0	0	1	0	4	44				
OR10Z1	128368	broad.mit.edu	37	1	158577035	158577035	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:158577035G>A	ENST00000361284.1	+	1	807	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTCTCTTGAGAGAGATCAGC	0.478																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(805-807)gaG>gaA		olfactory receptor, family 10, subfamily Z, member 1							232.0	233.0	233.0					1																	158577035		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577035G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.807G>A	1.37:g.158577035G>A			Somatic					p.E269E	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			1	807	+	all_hematologic(112;0.0378)		269					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.807G>A	CCDS30901.1																																																																																				0.478	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		5	573	0	0	0	1	0	5	573				
TLN1	7094	broad.mit.edu	37	9	35717254	35717254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:35717254G>A	ENST00000314888.9	-	19	2700	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	783					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACATGCTGCAGCAGCTCA	0.582																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2347-2349)Cag>Tag		talin 1							82.0	80.0	81.0					9																	35717254		2203	4300	6503	SO:0001587	stop_gained	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35717254G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2347C>T	9.37:g.35717254G>A	ENSP00000316029:p.Gln783*		Somatic				TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783*	p.Q783*	NM_006289.3	NP_006280.3	WXS	Illumina GAIIx	Phase_I	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		19	2700	-	all_epithelial(49;0.167)		783					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Nonsense_Mutation	SNP	ENST00000314888.9	37	c.2347C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	43	10.179092	0.99353	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	5.6	5.6	0.85130	.	0.056732	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-14.9252	15.9116	0.79477	0.0:0.1352:0.8648:0.0	.	.	.	.	X	783	.	ENSP00000316029:Q783X	Q	-	1	0	TLN1	35707254	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.882000	0.87258	2.653000	0.90120	0.561000	0.74099	CAG		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		6	241	0	0	0	1	0	6	241				
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3463-3465)ttG>ttT		autism susceptibility candidate 2							38.0	43.0	41.0					7																	70255667		2203	4299	6502	SO:0001583	missense	26053							g.chr7:70255667G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3465G>T	7.37:g.70255667G>T	ENSP00000344087:p.Leu1155Phe		Somatic				AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	p.L1155F	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3786	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1155			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3465G>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513129	0.64522	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.44482	0.97;0.92	4.62	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.53997	0.1831	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.51220	-0.8733	9	.	.	.	-16.9882	7.7553	0.28921	0.0817:0.0:0.7548:0.1636	.	607;1131;1155	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	1131;1155	ENSP00000385263:L1131F;ENSP00000344087:L1155F	.	L	+	3	2	AUTS2	69893603	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.310000	0.51911	1.144000	0.42321	0.655000	0.94253	TTG		0.692	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			11	47	1	0	4.36969e-10	1	4.97472e-10	11	47				
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:107592482G>C	ENST00000222399.6	-	23	3496	c.3266C>G	c.(3265-3267)gCt>gGt	p.A1089G	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1113G	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12. {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						GAAGGAATGAGCAGCATTGCA	0.567																																						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.(3337-3339)gCt>gGt		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						57.0	42.0	47.0					7																	107592482		2203	4300	6503	SO:0001583	missense	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.chr7:107592482G>C	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.3266C>G	7.37:g.107592482G>C	ENSP00000222399:p.Ala1089Gly		Somatic				LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G	p.A1113G			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			21	3522	-			1089			Laminin EGF-like 12.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3338C>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571707	0.13623	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.62105	0.05;0.05	4.93	0.837	0.18896	EGF-like, laminin (3);	.	.	.	.	T	0.51075	0.1653	L	0.50919	1.6	0.18873	N	0.999988	B;B	0.23650	0.04;0.089	B;B	0.26969	0.063;0.075	T	0.38200	-0.9672	9	0.23891	T	0.37	.	6.4453	0.21873	0.1399:0.0:0.3551:0.505	.	1089;1113	P07942;G3XAI2	LAMB1_HUMAN;.	G	1113;1089	ENSP00000377191:A1113G;ENSP00000222399:A1089G	ENSP00000222399:A1089G	A	-	2	0	LAMB1	107379718	0.000000	0.05858	0.002000	0.10522	0.437000	0.31866	0.727000	0.25999	0.036000	0.15547	-0.274000	0.10170	GCT		0.567	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		68	52	0	0	0	1	0	68	52				
FAM198B	51313	broad.mit.edu	37	4	159092036	159092036	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:159092036A>T	ENST00000296530.8	-	2	1113	c.492T>A	c.(490-492)ccT>ccA	p.P164P	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Silent_p.P164P|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000585682.1_Silent_p.P164P|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Silent_p.P164P|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	164						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GAGCGTACCCAGGTGCTACAG	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(490-492)ccT>ccA		family with sequence similarity 198, member B							54.0	55.0	54.0					4																	159092036		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159092036A>T		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.492T>A	4.37:g.159092036A>T			Somatic	OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Silent_p.P164P|FAM198B_ENST00000585682.1_Silent_p.P164P|FAM198B_ENST00000393807.5_Silent_p.P164P|RP11-597D13.9_ENST00000503611.1_RNA	p.P164P	NM_016613.6	NP_057697.2	WXS	Illumina GAIIx	Phase_I	Q6UWH4	F198B_HUMAN			2	1113	-			164					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.492T>A	CCDS3798.1																																																																																				0.637	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		3	114	0	0	0	1	0	3	114				
CARD6	84674	broad.mit.edu	37	5	40854274	40854274	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:40854274C>G	ENST00000254691.5	+	3	3039	c.2840C>G	c.(2839-2841)tCc>tGc	p.S947C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	947					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCCGATCAGTCCAACCCATCC	0.512																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2839-2841)tCc>tGc		caspase recruitment domain family, member 6							195.0	214.0	207.0					5																	40854274		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854274C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2840C>G	5.37:g.40854274C>G	ENSP00000254691:p.Ser947Cys		Somatic				CARD6_ENST00000381677.3_Intron	p.S947C	NM_032587.3	NP_115976.2	WXS	Illumina GAIIx	Phase_I	Q9BX69	CARD6_HUMAN			3	3039	+			947					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2840C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424958	0.25639	.	.	ENSG00000132357	ENST00000254691	D	0.96396	-4.0	3.49	0.456	0.16655	.	1.106060	0.06961	N	0.816424	D	0.90614	0.7057	N	0.19112	0.55	0.09310	N	0.999999	D	0.54047	0.964	B	0.36959	0.237	T	0.83177	-0.0091	10	0.87932	D	0	0.1788	9.0038	0.36100	0.5861:0.4139:0.0:0.0	.	947	Q9BX69	CARD6_HUMAN	C	947	ENSP00000254691:S947C	ENSP00000254691:S947C	S	+	2	0	CARD6	40890031	0.019000	0.18553	0.001000	0.08648	0.079000	0.17450	0.993000	0.29680	0.082000	0.17018	0.313000	0.20887	TCC		0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			9	478	0	0	0	1	0	9	478				
SPP1	6696	broad.mit.edu	37	4	88903976	88903976	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:88903976T>A	ENST00000395080.3	+	7	1000	c.873T>A	c.(871-873)agT>agA	p.S291R	SPP1_ENST00000237623.7_Missense_Mutation_p.S277R|SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	291					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACCCCAAAAGTAAGGAAGAAG	0.373																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.(829-831)agT>agA		secreted phosphoprotein 1							94.0	103.0	100.0					4																	88903976		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88903976T>A		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.873T>A	4.37:g.88903976T>A	ENSP00000378517:p.Ser291Arg		Somatic				SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000395080.3_Missense_Mutation_p.S291R|SPP1_ENST00000509659.1_3'UTR	p.S277R	NM_000582.2	NP_000573.1	WXS	Illumina GAIIx	Phase_I	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	6	979	+		Hepatocellular(203;0.114)	291	SHEF -> GNSL (in Ref. 2).				B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.831T>A	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831452	0.50845	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804	T;T;T	0.44482	0.92;0.92;0.92	5.8	4.62	0.57501	.	0.309873	0.31404	N	0.007708	T	0.58177	0.2104	M	0.64404	1.975	0.35971	D	0.835305	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999	T	0.67264	-0.5714	10	0.87932	D	0	-16.5947	8.6095	0.33793	0.0:0.0864:0.0:0.9136	.	304;250;277;264;291	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	R	269;250;277;291;264	ENSP00000237623:S277R;ENSP00000378517:S291R;ENSP00000354042:S264R	ENSP00000237623:S277R	S	+	3	2	SPP1	89123000	0.369000	0.25039	0.376000	0.26042	0.285000	0.27093	0.322000	0.19576	1.024000	0.39682	0.523000	0.50628	AGT		0.373	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			4	109	0	0	0	1	0	4	109				
MUC21	394263	broad.mit.edu	37	6	30954569	30954569	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:30954569G>A	ENST00000376296.3	+	2	858	c.617G>A	c.(616-618)gGg>gAg	p.G206E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	206	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAGCACA	0.622																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(616-618)gGg>gAg		mucin 21, cell surface associated							153.0	150.0	151.0					6																	30954569		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954569G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.617G>A	6.37:g.30954569G>A	ENSP00000365473:p.Gly206Glu		Somatic				MUC21_ENST00000486149.2_5'UTR	p.G206E	NM_001010909.2	NP_001010909.2	WXS	Illumina GAIIx	Phase_I	Q5SSG8	MUC21_HUMAN			2	858	+			206			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.617G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704470	0.15172	.	.	ENSG00000204544	ENST00000376296	T	0.03035	4.07	3.86	-2.11	0.07187	.	.	.	.	.	T	0.00724	0.0024	N	0.24115	0.695	0.09310	N	1	B	0.30851	0.297	B	0.27262	0.078	T	0.46484	-0.9188	8	.	.	.	0.0337	5.4592	0.16607	0.2821:0.4297:0.2882:0.0	.	206	Q5SSG8	MUC21_HUMAN	E	206	ENSP00000365473:G206E	.	G	+	2	0	MUC21	31062548	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.245000	0.02899	-0.199000	0.10317	-0.332000	0.08345	GGG		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		4	210	0	0	0	1	0	4	210				
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(883-885)Tgc>Ggc		secreted frizzled-related protein 2							76.0	69.0	71.0					4																	154702608		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702608A>C	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.883T>G	4.37:g.154702608A>C	ENSP00000274063:p.Cys295Gly		Somatic					p.C295G	NM_003013.2	NP_003004.1	WXS	Illumina GAIIx	Phase_I	Q96HF1	SFRP2_HUMAN			3	1167	-	all_hematologic(180;0.093)	Renal(120;0.117)	295			NTR.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.883T>G	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754815	0.69648	.	.	ENSG00000145423	ENST00000274063	D	0.84146	-1.81	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92900	0.6338	10	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	295	Q96HF1	SFRP2_HUMAN	G	295	ENSP00000274063:C295G	ENSP00000274063:C295G	C	-	1	0	SFRP2	154922058	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.513000	0.90542	2.268000	0.75426	0.533000	0.62120	TGC		0.617	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			31	71	0	0	0	1	0	31	71				
PIP4K2B	8396	broad.mit.edu	37	17	36935784	36935784	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:36935784T>A	ENST00000269554.3	-	5	988		c.e5-2		PIP4K2B_ENST00000311500.6_Splice_Site	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta						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						CACTATAAACTAGAATGGAAA	0.532																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.e5-2		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							77.0	60.0	66.0					17																	36935784		2203	4300	6503	SO:0001630	splice_region_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.chr17:36935784T>A	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.508-2A>T	17.37:g.36935784T>A			Somatic				PIP4K2B_ENST00000311500.6_Splice_Site		NM_003559.4	NP_003550.1	WXS	Illumina GAIIx	Phase_I	P78356	PI42B_HUMAN			5	988	-								Q5U0E8|Q8TBP2	Splice_Site	SNP	ENST00000269554.3	37		CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713710	0.48517	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9639	0.64196	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP4K2B	34189310	1.000000	0.71417	0.979000	0.43373	0.429000	0.31625	7.522000	0.81844	2.168000	0.68352	0.533000	0.62120	.		0.532	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	Intron	5	242	0	0	0	1	0	5	242				
ASIC3	9311	broad.mit.edu	37	7	150746080	150746080	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:150746080C>A	ENST00000349064.5	+	1	306	c.108C>A	c.(106-108)ggC>ggA	p.G36G	ASIC3_ENST00000297512.8_Silent_p.G36G|ASIC3_ENST00000357922.4_Silent_p.G36G	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	36					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TCGGGCCAGGCAGCCTGAGCC	0.697																																						ENST00000357922.4																			0											c.(106-108)ggC>ggA		acid-sensing (proton-gated) ion channel 3							39.0	41.0	40.0					7																	150746080		2202	4298	6500	SO:0001819	synonymous_variant	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746080C>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.108C>A	7.37:g.150746080C>A			Somatic				ASIC3_ENST00000349064.5_Silent_p.G36G|ASIC3_ENST00000297512.8_Silent_p.G36G	p.G36G	NM_020322.3	NP_064718.1	WXS	Illumina GAIIx	Phase_I	Q9UHC3	ACCN3_HUMAN			1	702	+			36					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	c.108C>A	CCDS5916.1																																																																																				0.697	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		6	49	1	0	0.00621372	1	0.00643098	6	49				
AGTR1	185	broad.mit.edu	37	3	148459298	148459298	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:148459298C>T	ENST00000497524.1	+	2	867	c.476C>T	c.(475-477)gCc>gTc	p.A159V	AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000542281.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	159					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCAGGCTTGGCCAGTTTGCCA	0.458																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(475-477)gCc>gTc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						96.0	93.0	94.0					3																	148459298		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459298C>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.476C>T	3.37:g.148459298C>T	ENSP00000419422:p.Ala159Val		Somatic				AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000497524.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V	p.A159V	NM_031850.3	NP_114038.4	WXS	Illumina GAIIx	Phase_I	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	922	+			159					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.476C>T	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127386	0.37533	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.201915	0.43260	D	0.000586	T	0.63462	0.2513	L	0.40543	1.245	0.48830	D	0.999715	B	0.15473	0.013	B	0.23574	0.047	T	0.59910	-0.7365	10	0.59425	D	0.04	-8.8392	19.387	0.94560	0.0:1.0:0.0:0.0	.	159	P30556	AGTR1_HUMAN	V	159	ENSP00000419422:A159V;ENSP00000273430:A159V;ENSP00000443186:A159V;ENSP00000398832:A159V;ENSP00000385612:A159V;ENSP00000419783:A159V;ENSP00000418084:A159V;ENSP00000418851:A159V;ENSP00000385641:A159V	ENSP00000273430:A159V	A	+	2	0	AGTR1	149941988	1.000000	0.71417	0.998000	0.56505	0.718000	0.41266	6.023000	0.70848	2.572000	0.86782	0.655000	0.94253	GCC		0.458	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			4	266	0	0	0	1	0	4	266				
GOLIM4	27333	broad.mit.edu	37	3	167750453	167750453	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:167750453T>C	ENST00000470487.1	-	9	1720	c.1031A>G	c.(1030-1032)gAg>gGg	p.E344G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	344	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						TTCTTCCTCCTCCAGGGCCTT	0.552																																						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.(1030-1032)gAg>gGg		golgi integral membrane protein 4							185.0	168.0	173.0					3																	167750453		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750453T>C	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.1031A>G	3.37:g.167750453T>C	ENSP00000417354:p.Glu344Gly		Somatic				GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G	p.E344G	NM_014498.3	NP_055313.1	WXS	Illumina GAIIx	Phase_I	O00461	GOLI4_HUMAN			9	1720	-			344			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1031A>G	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615320	0.46631	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.25	2.7	0.31948	.	0.211227	0.47852	D	0.000206	T	0.60209	0.2251	M	0.72118	2.19	0.49213	D	0.999769	P;P	0.45827	0.867;0.867	P;P	0.47346	0.544;0.544	T	0.56463	-0.7975	9	0.31617	T	0.26	-8.2301	11.5654	0.50802	0.0:0.0:0.2842:0.7158	.	316;344	F8W785;O00461	.;GOLI4_HUMAN	G	344;316	.	ENSP00000309893:E316G	E	-	2	0	GOLIM4	169233147	0.996000	0.38824	0.820000	0.32676	0.817000	0.46193	2.822000	0.48073	0.268000	0.21939	0.454000	0.30748	GAG		0.552	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			4	342	0	0	0	1	0	4	342				
ZNF16	7564	broad.mit.edu	37	8	146156711	146156711	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:146156711G>A	ENST00000276816.4	-	4	1648	c.1462C>T	c.(1462-1464)Ccg>Tcg	p.P488S	ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	488	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATCTGTACGGCTTCTCTCCC	0.547																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1462-1464)Ccg>Tcg		zinc finger protein 16							106.0	98.0	101.0					8																	146156711		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156711G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1462C>T	8.37:g.146156711G>A	ENSP00000276816:p.Pro488Ser		Somatic				ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S	p.P488S	NM_001029976.2	NP_001025147.2	WXS	Illumina GAIIx	Phase_I	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1648	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	488					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1462C>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451513	0.43531	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.16743	2.32;2.32	3.91	2.98	0.34508	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37183	0.0994	M	0.62088	1.915	0.32756	N	0.505766	D	0.89917	1.0	D	0.87578	0.998	T	0.48364	-0.9042	9	0.62326	D	0.03	.	12.383	0.55317	0.0:0.1706:0.8294:0.0	.	488	P17020	ZNF16_HUMAN	S	488	ENSP00000276816:P488S;ENSP00000378369:P488S	ENSP00000276816:P488S	P	-	1	0	ZNF16	146127515	1.000000	0.71417	0.990000	0.47175	0.176000	0.22953	4.555000	0.60767	2.006000	0.58801	0.462000	0.41574	CCG		0.547	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		5	367	0	0	0	1	0	5	367				
DISP1	84976	broad.mit.edu	37	1	223163965	223163965	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:223163965A>T	ENST00000284476.6	+	4	703		c.e4-1		DISP1_ENST00000495684.1_Splice_Site	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)						determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGTGTTTTGTAGTTATGCAGC	0.478																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.e4-1		dispatched homolog 1 (Drosophila)							205.0	187.0	193.0					1																	223163965		2203	4300	6503	SO:0001630	splice_region_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223163965A>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.540-1A>T	1.37:g.223163965A>T			Somatic				DISP1_ENST00000495684.1_Splice_Site		NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	4	703	+								Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Splice_Site	SNP	ENST00000284476.6	37		CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335837	0.81801	.	.	ENSG00000154309	ENST00000284476	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5934	0.76558	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DISP1	221230588	1.000000	0.71417	0.606000	0.28943	0.856000	0.48823	9.339000	0.96797	2.088000	0.63022	0.454000	0.30748	.		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	Intron	5	185	0	0	0	1	0	5	185				
MID2	11043	broad.mit.edu	37	X	107148850	107148850	+	Missense_Mutation	SNP	C	C	T	rs138552159		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chrX:107148850C>T	ENST00000262843.6	+	5	1615	c.1067C>T	c.(1066-1068)gCt>gTt	p.A356V	MID2_ENST00000443968.2_Missense_Mutation_p.A356V|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	356	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.A336D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAAAATATTGCTGAGAGGTCA	0.428																																						ENST00000262843.6																			1	Substitution - Missense(1)	p.A336D(1)	large_intestine(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1066-1068)gCt>gTt		midline 2		C	VAL/ALA,VAL/ALA	0,3835		0,0,1632,571	135.0	127.0	130.0		1067,1067	4.4	1.0	X	dbSNP_134	130	1,6727		0,1,2427,1872	no	missense,missense	MID2	NM_012216.3,NM_052817.2	64,64	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign	356/736,356/706	107148850	1,10562	2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107148850C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1067C>T	X.37:g.107148850C>T	ENSP00000262843:p.Ala356Val		Somatic				RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.A356V	p.A356V	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			5	1615	+			356			COS.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1067C>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834729	0.32421	0.0	1.49E-4	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.59364	0.27;0.29	5.48	4.42	0.53409	B-box, C-terminal (1);COS domain (1);	0.166949	0.53938	D	0.000058	T	0.41673	0.1169	L	0.36672	1.1	0.53688	D	0.99997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.22941	-1.0202	10	0.06891	T	0.86	.	11.1991	0.48730	0.0:0.8906:0.0:0.1094	.	356;356	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	V	356	ENSP00000262843:A356V;ENSP00000413976:A356V	ENSP00000262843:A356V	A	+	2	0	MID2	107035506	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	3.538000	0.53597	2.288000	0.76882	0.600000	0.82982	GCT		0.428	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		6	916	0	0	0	1	0	6	916				
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	CRAMP1L_ENST00000262317.4_Silent_p.G460G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000436138.3_Silent_p.G1079G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3244-3246)ggC>ggA		Crm, cramped-like (Drosophila)							58.0	60.0	60.0					16																	1718106		2149	4255	6404	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1718106C>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3246C>A	16.37:g.1718106C>A			Somatic				CRAMP1L_ENST00000262317.4_Silent_p.G460G|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G	p.G1082G			WXS	Illumina GAIIx	Phase_I	Q96RY5	CRML_HUMAN			18	3345	+			1082			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.3246C>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	8.298	0.819163	0.16607	.	.	ENSG00000007545	ENST00000415022	.	.	.	5.68	-2.84	0.05751	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	-36.0731	4.027	0.09692	0.14:0.4684:0.2494:0.1421	.	.	.	.	T	183	.	.	P	+	1	0	CRAMP1L	1658107	0.885000	0.30320	0.847000	0.33407	0.638000	0.38207	0.038000	0.13862	-0.204000	0.10235	0.650000	0.86243	CCC		0.617	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			8	145	1	0	0.307466	1	0.309558	8	145				
MEGF10	84466	broad.mit.edu	37	5	126676271	126676271	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:126676271C>T	ENST00000274473.6	+	5	535	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	90	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TATGTATAGGCGCAAGTCTCA	0.418																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(268-270)Cgc>Tgc		multiple EGF-like-domains 10							200.0	187.0	191.0					5																	126676271		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126676271C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.268C>T	5.37:g.126676271C>T	ENSP00000274473:p.Arg90Cys		Somatic				MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C	p.R90C	NM_032446.2	NP_115822.1	WXS	Illumina GAIIx	Phase_I	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	5	535	+		Prostate(80;0.165)	90			EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.268C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237779	0.58886	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.81078	-1.45;2.71;2.71;-1.45	5.3	5.3	0.74995	EMI domain (1);	0.000000	0.64402	D	0.000001	D	0.86381	0.5919	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.85130	0.761;0.997	D	0.84890	0.0836	10	0.38643	T	0.18	-36.1114	13.7123	0.62675	0.1548:0.8452:0.0:0.0	.	90;90	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	90	ENSP00000423354:R90C;ENSP00000423195:R90C;ENSP00000416284:R90C;ENSP00000274473:R90C	ENSP00000274473:R90C	R	+	1	0	MEGF10	126704170	0.916000	0.31088	1.000000	0.80357	0.982000	0.71751	1.862000	0.39448	2.648000	0.89879	0.650000	0.86243	CGC		0.418	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		5	472	0	0	0	1	0	5	472				
IGHG4	3503	broad.mit.edu	37	14	106091410	106091410	+	RNA	SNP	C	C	T	rs373708877		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106091410C>T	ENST00000390543.2	-	0	483							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m 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)										TGCACCTCCACGCCATCCACG	0.607																																						ENST00000390543.2																			0															C		0,4356		0,0,2178	202.0	248.0	233.0			-1.0	0.0	14		233	1,8549		0,1,4274	no	intergenic				0,1,6452	TT,TC,CC		0.0117,0.0,0.0077			106091410	1,12905	2178	4275	6453			3503							g.chr14:106091410C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091410C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	483	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.607	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		8	1102	0	0	0	1	0	8	1102				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	106	0	0	0	1	0	3	106				
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:76380267A>T	ENST00000447266.2	+	11	1702		c.e11-1		SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370014.3_Splice_Site|SENP6_ENST00000327284.8_Splice_Site	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e11-1		SUMO1/sentrin specific peptidase 6							74.0	65.0	68.0					6																	76380267		1803	4074	5877	SO:0001630	splice_region_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76380267A>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1225-1A>T	6.37:g.76380267A>T			Somatic				SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site		NM_001100409.1	NP_001093879.1	WXS	Illumina GAIIx	Phase_I	Q9GZR1	SENP6_HUMAN			11	1843	+		all_hematologic(105;0.189)						A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Splice_Site	SNP	ENST00000447266.2	37		CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921043	0.73213	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8735	0.79141	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SENP6	76436987	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.414000	0.73318	2.149000	0.67028	0.533000	0.62120	.		0.323	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	Intron	7	118	0	0	0	1	0	7	118				
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846					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)					GCACACCTTTGCTCACCTCTA	0.463																																						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.(11536-11538)ttG>ttT		mucin 17, cell surface associated							128.0	114.0	119.0					7																	100686235		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686235G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11538G>T	7.37:g.100686235G>T	ENSP00000302716:p.Leu3846Phe		Somatic					p.L3846F	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	11602	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3846					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11538G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	9.834	1.189161	0.21954	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	1.55	-1.45	0.08828	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.58577	0.841	T	0.40997	-0.9533	9	0.26408	T	0.33	.	1.9845	0.03433	0.2308:0.0:0.464:0.3052	.	3846	Q685J3	MUC17_HUMAN	F	3846	ENSP00000302716:L3846F	ENSP00000302716:L3846F	L	+	3	2	MUC17	100472955	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-2.578000	0.00908	-0.020000	0.14032	0.187000	0.17357	TTG		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		31	100	1	0	1.36161e-19	1	1.59936e-19	31	100				
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(79-81)ctA>ctT		tRNA nucleotidyl transferase, CCA-adding, 1							115.0	102.0	107.0					3																	3170805		2203	4300	6503	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3170805A>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.81A>T	3.37:g.3170805A>T			Somatic				TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000402675.1_Silent_p.L27L	p.L27L	NM_182916.2	NP_886552.2	WXS	Illumina GAIIx	Phase_I	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	2	183	+			27					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.81A>T	CCDS2561.2																																																																																				0.488	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			56	105	0	0	0	1	0	56	105				
POTEG	404785	broad.mit.edu	37	14	19553761	19553761	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:19553761C>A	ENST00000409832.3	+	1	397	c.345C>A	c.(343-345)agC>agA	p.S115R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115								p.S115R(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGGCAAGAGCAAAGTGGGCC	0.597																																						ENST00000409832.3																			1	Substitution - Missense(1)	p.S115R(1)	lung(1)	cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(343-345)agC>agA		POTE ankyrin domain family, member G							391.0	424.0	413.0					14																	19553761		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553761C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.345C>A	14.37:g.19553761C>A	ENSP00000386971:p.Ser115Arg		Somatic					p.S115R	NM_001005356.2	NP_001005356.1	WXS	Illumina GAIIx	Phase_I	Q6S5H5	POTEG_HUMAN			1	397	+			115					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.345C>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	8.629	0.893124	0.17613	.	.	ENSG00000222036	ENST00000409832	T	0.27256	1.68	.	.	.	.	.	.	.	.	T	0.31606	0.0802	L	0.53249	1.67	0.09310	N	1	D	0.59767	0.986	P	0.54924	0.764	T	0.16928	-1.0386	7	0.30854	T	0.27	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	R	115	ENSP00000386971:S115R	ENSP00000386971:S115R	S	+	3	2	POTEG	18623761	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.590000	0.23954	0.162000	0.19483	0.165000	0.16767	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		21	330	1	0	2.24395e-52	1	2.70004e-52	21	330				
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000462753.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							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)					TCTGTACAACTAGAAGGAAAA	0.388																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.e5-2		transmembrane protein 209							53.0	52.0	52.0					7																	129841933		1898	4122	6020	SO:0001630	splice_region_variant	84928					integral to membrane		g.chr7:129841933T>A		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.332-2A>T	7.37:g.129841933T>A			Somatic				TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Splice_Site		NM_032842.3	NP_116231.2	WXS	Illumina GAIIx	Phase_I	Q96SK2	TM209_HUMAN			5	454	-	Melanoma(18;0.0435)							A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Splice_Site	SNP	ENST00000397622.2	37		CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311125	0.60414	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8362	0.63410	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM209	129629169	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	7.281000	0.78621	2.204000	0.70986	0.383000	0.25322	.		0.388	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	Intron	7	178	0	0	0	1	0	7	178				
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			9	Substitution - Missense(9)	p.L189V(9)	endometrium(6)|kidney(3)	endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(565-567)Cta>Gta		emopamil binding protein-like							67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235160G>C	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val		Somatic				EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	p.L189V	NM_032565.3	NP_115954.1	WXS	Illumina GAIIx	Phase_I	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	615	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	189					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.565C>G	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA		0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		6	61	0	0	0	1	0	6	61				
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T	rs541583849		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3571-3573)gtA>gtT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							162.0	131.0	141.0					10																	93757421		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93757421A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3573A>T	10.37:g.93757421A>T			Somatic				BTAF1_ENST00000544642.1_Silent_p.V19V	p.V1191V	NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			25	3881	+		Colorectal(252;0.0846)	1191					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3573A>T	CCDS7419.1																																																																																				0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		6	147	0	0	0	1	0	6	147				
ADAR	103	broad.mit.edu	37	1	154562732	154562732	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:154562732G>A	ENST00000368474.4	-	7	2623	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	808					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTCACTGGGGTTACCTCTG	0.527																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2422-2424)acC>acT		adenosine deaminase, RNA-specific							102.0	95.0	98.0					1																	154562732		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154562732G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2424C>T	1.37:g.154562732G>A			Somatic				ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T	p.T808T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	7	2623	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		808					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.2424C>T	CCDS1071.1																																																																																				0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		5	109	0	0	0	1	0	5	109				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	68	0	0	0	1	0	8	68				
CYLD	1540	broad.mit.edu	37	16	50827498	50827498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:50827498G>T	ENST00000427738.3	+	16	2597	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	CYLD_ENST00000540145.1_Nonsense_Mutation_p.E798*|RP11-327F22.4_ENST00000564510.1_RNA|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	798	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGCAATGTATGAGTGTAGAGA	0.438			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2392-2394)Gag>Tag		cylindromatosis (turban tumor syndrome)							178.0	163.0	168.0					16																	50827498		1905	4127	6032	SO:0001587	stop_gained	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50827498G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2392G>T	16.37:g.50827498G>T	ENSP00000392025:p.Glu798*		Somatic				CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.E798*	p.E798*			WXS	Illumina GAIIx	Phase_I	Q9NQC7	CYLD_HUMAN			17	2807	+		all_cancers(37;0.0156)	798					O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.2392G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	42	9.197307	0.99098	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.0099	19.2041	0.93723	0.0:0.0:1.0:0.0	.	.	.	.	X	798;798;795;795	.	ENSP00000308928:E798X	E	+	1	0	CYLD	49384999	1.000000	0.71417	0.952000	0.39060	0.960000	0.62799	9.351000	0.97073	2.620000	0.88729	0.655000	0.94253	GAG		0.438	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			16	282	1	0	2.35188e-11	1	2.69828e-11	16	282				
FAM120B	84498	broad.mit.edu	37	6	170627767	170627767	+	Missense_Mutation	SNP	A	A	G	rs6900202	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:170627767A>G	ENST00000476287.1	+	2	1397	c.1289A>G	c.(1288-1290)gAc>gGc	p.D430G	FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	430			D -> G (in dbSNP:rs6900202).		cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATGTATACAGACTCTGAACCC	0.512													G|||	41	0.0081869	0.0045	0.0101	5008	,	,		20771	0.0109		0.004	False		,,,				2504	0.0133					ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1288-1290)gAc>gGc		family with sequence similarity 120B							184.0	201.0	195.0					6																	170627767		2203	4299	6502	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627767A>G	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1289A>G	6.37:g.170627767A>G	ENSP00000417970:p.Asp430Gly		Somatic				FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G|FAM120B_ENST00000252510.9_Intron	p.D430G	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1397	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	430		D -> G (in dbSNP:rs6900202).			B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1289A>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	2.701	-0.271073	0.05716	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08370	3.1;3.12;3.13	3.07	-3.74	0.04385	.	1.370640	0.04162	N	0.323276	T	0.01870	0.0059	L	0.55481	1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44467	-0.9326	10	0.20046	T	0.44	0.676	1.4566	0.02387	0.3827:0.1471:0.3256:0.1447	rs6900202	430;430	Q96EK7;F2Z2E1	F120B_HUMAN;.	G	442;453;430	ENSP00000444125:D442G;ENSP00000440125:D453G;ENSP00000417970:D430G	ENSP00000436640:D430G	D	+	2	0	FAM120B	170469692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	-0.870000	0.04047	-2.164000	0.00325	GAC		0.512	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		5	512	0	0	0	1	0	5	512				
DPY19L4	286148	broad.mit.edu	37	8	95751944	95751944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:95751944A>T	ENST00000414645.2	+	6	636	c.537A>T	c.(535-537)ttA>ttT	p.L179F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	179						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTACTGCTTTATTTGTTACAA	0.348																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(535-537)ttA>ttT		dpy-19-like 4 (C. elegans)							239.0	230.0	233.0					8																	95751944		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95751944A>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.537A>T	8.37:g.95751944A>T	ENSP00000389630:p.Leu179Phe		Somatic					p.L179F	NM_181787.2	NP_861452.2	WXS	Illumina GAIIx	Phase_I	Q7Z388	D19L4_HUMAN			6	636	+	Breast(36;3.85e-06)		179					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.537A>T	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.07|16.07	3.017988|3.017988	0.54576|0.54576	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000519353;ENST00000523020|ENST00000522422;ENST00000414645;ENST00000519176;ENST00000521525	.|T;T;T;T	.|0.64085	.|-0.08;-0.08;-0.08;-0.08	5.98|5.98	-0.0805|-0.0805	0.13706|0.13706	.|.	.|0.150338	.|0.43747	.|N	.|0.000525	T|T	0.72526|0.72526	0.3471|0.3471	M|M	0.72118|0.72118	2.19|2.19	0.53005|0.53005	D|D	0.999968|0.999968	.|P;D	.|0.89917	.|0.89;1.0	.|P;D	.|0.91635	.|0.691;0.999	T|T	0.69658|0.69658	-0.5086|-0.5086	5|10	.|0.41790	.|T	.|0.15	-11.3288|-11.3288	9.7753|9.7753	0.40614|0.40614	0.4039:0.0:0.5961:0.0|0.4039:0.0:0.5961:0.0	.|.	.|107;179	.|E5RGB7;Q7Z388	.|.;D19L4_HUMAN	F|F	111;23|107;179;150;29	.|ENSP00000428762:L107F;ENSP00000389630:L179F;ENSP00000430417:L150F;ENSP00000429559:L29F	.|ENSP00000389630:L179F	I|L	+|+	1|3	0|2	DPY19L4|DPY19L4	95821120|95821120	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	0.949000|0.949000	0.29109|0.29109	0.185000|0.185000	0.20105|0.20105	0.482000|0.482000	0.46254|0.46254	ATT|TTA		0.348	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		5	257	0	0	0	1	0	5	257				
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373325.2_Splice_Site|DHX35_ENST00000373323.4_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35						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)				TTTATTTTTTAGTTTCTTACT	0.313																																						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.e6-1		DEAH (Asp-Glu-Ala-His) box polypeptide 35							112.0	112.0	112.0					20																	37620095		2203	4300	6503	SO:0001630	splice_region_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37620095A>T	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.451-1A>T	20.37:g.37620095A>T			Somatic				DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site		NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			6	483	+		Myeloproliferative disorder(115;0.00878)						A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Splice_Site	SNP	ENST00000252011.3	37		CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028280	0.75390	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	.	.	.	5.95	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9984	0.47591	0.9261:0.0:0.0739:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX35	37053509	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.751000	0.85126	1.066000	0.40716	0.460000	0.39030	.		0.313	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Intron	4	142	0	0	0	1	0	4	142				
ECT2L	345930	broad.mit.edu	37	6	139175195	139175195	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:139175195C>A	ENST00000423192.1	+	9	1263	c.1102C>A	c.(1102-1104)Cct>Act	p.P368T	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T|ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	368							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTTACTGAGGCCTGAAGTGAG	0.393			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1102-1104)Cct>Act		epithelial cell transforming sequence 2 oncogene-like							156.0	155.0	155.0					6																	139175195		1821	4070	5891	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139175195C>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1102C>A	6.37:g.139175195C>A	ENSP00000387388:p.Pro368Thr		Somatic				ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T	p.P368T			WXS	Illumina GAIIx	Phase_I	Q008S8	ECT2L_HUMAN			9	1263	+			368					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1102C>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942339	0.73672	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79141	-0.17;-0.17;-1.24	5.65	4.73	0.59995	.	0.477352	0.13955	U	0.351226	T	0.80470	0.4629	M	0.72894	2.215	0.32819	D	0.502488	D;D	0.57257	0.979;0.964	P;P	0.56563	0.801;0.638	T	0.80238	-0.1465	10	0.87932	D	0	0.7979	13.3122	0.60386	0.0:0.8412:0.1588:0.0	.	299;368	F5H7S9;Q008S8	.;ECT2L_HUMAN	T	368;368;299	ENSP00000387388:P368T;ENSP00000356655:P368T;ENSP00000442307:P299T	ENSP00000356655:P368T	P	+	1	0	ECT2L	139216888	0.970000	0.33590	0.995000	0.50966	0.983000	0.72400	2.289000	0.43523	2.674000	0.91012	0.655000	0.94253	CCT		0.393	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		4	430	1	0	0.014758	1	0.0151679	4	430				
FAT3	120114	broad.mit.edu	37	11	92532309	92532309	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:92532309C>T	ENST00000298047.6	+	9	6147	c.6130C>T	c.(6130-6132)Cgt>Tgt	p.R2044C	FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2044	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCTTTGACCGTGAAGAACA	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6130-6132)Cgt>Tgt		FAT atypical cadherin 3							55.0	57.0	56.0					11																	92532309		1910	4128	6038	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532309C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6130C>T	11.37:g.92532309C>T	ENSP00000298047:p.Arg2044Cys	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C	p.R2044C			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			9	6147	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2044			Cadherin 18.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6130C>T		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726550	0.48833	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01787	4.64;4.64;4.64	5.71	4.74	0.60224	.	.	.	.	.	T	0.16257	0.0391	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01027	-1.1476	9	0.87932	D	0	.	14.163	0.65459	0.2545:0.7455:0.0:0.0	.	2044	Q8TDW7-3	.	C	2044;2044;1894	ENSP00000298047:R2044C;ENSP00000387040:R2044C;ENSP00000432586:R1894C	ENSP00000298047:R2044C	R	+	1	0	FAT3	92171957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.632000	0.37102	2.700000	0.92200	0.655000	0.94253	CGT		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	95	0	0	0	1	0	3	95				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396429.1_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_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_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	11	211	0	0	0	1	0	11	211				
MTHFR	4524	broad.mit.edu	37	1	11861228	11861228	+	Silent	SNP	C	C	T	rs566125423	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:11861228C>T	ENST00000376592.1	-	2	593	c.465G>A	c.(463-465)gcG>gcA	p.A155A	MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	155					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTCCCCGCAGCGCCATGATGT	0.587																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(463-465)gcG>gcA		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						91.0	91.0	91.0					1																	11861228		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11861228C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.465G>A	1.37:g.11861228C>T			Somatic				MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A	p.A155A			WXS	Illumina GAIIx	Phase_I	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	2	593	-	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	155					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.465G>A	CCDS137.1																																																																																				0.587	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		3	107	0	0	0	1	0	3	107				
AHNAK	79026	broad.mit.edu	37	11	62295576	62295576	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62295576G>A	ENST00000378024.4	-	5	6587	c.6313C>T	c.(6313-6315)Ctt>Ttt	p.L2105F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2105					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)				GGCATCTTAAGCTTGGGGCCC	0.527																																						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.(6313-6315)Ctt>Ttt		AHNAK nucleoprotein							185.0	191.0	189.0					11																	62295576		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295576G>A	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.6313C>T	11.37:g.62295576G>A	ENSP00000367263:p.Leu2105Phe		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L2105F	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	6587	-		Melanoma(852;0.155)	2105					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6313C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.623394	0.00820	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02763	4.17	3.57	3.57	0.40892	.	.	.	.	.	T	0.00608	0.0020	N	0.00051	-2.4	0.28188	N	0.927881	B	0.02656	0.0	B	0.04013	0.001	T	0.40739	-0.9547	9	0.02654	T	1	.	8.7193	0.34430	0.9033:0.0:0.0967:0.0	.	2105	Q09666	AHNK_HUMAN	F	194;2105	ENSP00000367263:L2105F	ENSP00000244934:L194F	L	-	1	0	AHNAK	62052152	0.001000	0.12720	0.830000	0.32933	0.732000	0.41865	-0.021000	0.12504	0.374000	0.24650	-0.965000	0.02619	CTT		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	671	0	0	0	1	0	5	671				
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T	rs565938595	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455T|SLC22A6_ENST00000421062.2_Splice_Site_p.A455T|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACAGTGACAGCGCTGGCGGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15785	0.0		0.0	False		,,,				2504	0.0					ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1495-1497)Gct>Act		solute carrier family 22 (organic anion transporter), member 6							75.0	71.0	72.0					11																	62744726		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744726C>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1495G>A	11.37:g.62744726C>T	ENSP00000367102:p.Ala499Thr		Somatic				SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice	p.A499T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	WXS	Illumina GAIIx	Phase_I	Q4U2R8	S22A6_HUMAN			9	1761	-			499					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1495G>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325294	0.10900	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.73258	-0.73;-0.73;0.09;0.09	4.48	1.62	0.23740	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.508642	0.22012	N	0.065853	T	0.64338	0.2589	M	0.73430	2.235	0.09310	N	1	B;B;B;B	0.21688	0.021;0.012;0.059;0.027	B;B;B;B	0.16289	0.014;0.009;0.015;0.009	T	0.52480	-0.8570	10	0.28530	T	0.3	.	7.7515	0.28901	0.0:0.7191:0.0:0.2809	.	455;455;499;499	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	T	499;478;499;455;455	ENSP00000353597:A499T;ENSP00000367102:A499T;ENSP00000396401:A455T;ENSP00000404441:A455T	ENSP00000353597:A499T	A	-	1	0	SLC22A6	62501302	0.000000	0.05858	0.029000	0.17559	0.168000	0.22595	-0.191000	0.09601	0.163000	0.19507	-0.258000	0.10820	GCT		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		45	69	0	0	0	1	0	45	69				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.e4-1		zinc finger, matrin-type 2							166.0	152.0	157.0					5																	140083501		2203	4300	6503	SO:0001630	splice_region_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140083501A>T	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.237-1A>T	5.37:g.140083501A>T			Somatic						NM_144723.1	NP_653324.1	WXS	Illumina GAIIx	Phase_I	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	363	+									Splice_Site	SNP	ENST00000274712.3	37		CCDS4239.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787461	0.90367	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0025	0.80306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMAT2	140063685	1.000000	0.71417	0.698000	0.30274	0.851000	0.48451	8.932000	0.92897	2.237000	0.73441	0.459000	0.35465	.		0.368	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	Intron	8	680	0	0	0	1	0	8	680				
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(730-732)agC>agA		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							57.0	53.0	54.0					11																	45671742		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671742G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.732C>A	11.37:g.45671742G>T	ENSP00000309270:p.Ser244Arg		Somatic					p.S244R	NM_003654.5	NP_003645.1	WXS	Illumina GAIIx	Phase_I	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1402	-			244					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.732C>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410234	0.42715	.	.	ENSG00000175264	ENST00000308064	D	0.82619	-1.63	4.98	2.06	0.26882	Sulfotransferase domain (1);	0.147583	0.64402	D	0.000011	T	0.71787	0.3381	N	0.19112	0.55	0.40176	D	0.977238	P	0.47910	0.902	P	0.47402	0.546	T	0.63941	-0.6523	10	0.15952	T	0.53	-8.5739	8.7652	0.34698	0.4721:0.0:0.5279:0.0	.	244	O43916	CHST1_HUMAN	R	244	ENSP00000309270:S244R	ENSP00000309270:S244R	S	-	3	2	CHST1	45628318	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.708000	0.25719	0.147000	0.19030	0.462000	0.41574	AGC		0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		5	175	1	0	0.00198382	1	0.00208231	5	175				
OR5AU1	390445	broad.mit.edu	37	14	21623380	21623380	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:21623380A>G	ENST00000304418.3	-	1	842	c.805T>C	c.(805-807)Tac>Cac	p.Y269H		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATTAAGAAGTAGGAGATCAAG	0.488																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(805-807)Tac>Cac		olfactory receptor, family 5, subfamily AU, member 1							114.0	96.0	102.0					14																	21623380		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623380A>G	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.805T>C	14.37:g.21623380A>G	ENSP00000302057:p.Tyr269His		Somatic					p.Y269H	NM_001004731.1	NP_001004731.1	WXS	Illumina GAIIx	Phase_I	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	842	-	all_cancers(95;0.00238)		269					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.805T>C	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050421	0.36181	.	.	ENSG00000169327	ENST00000304418	T	0.00515	6.87	4.48	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02342	0.0072	H	0.97783	4.075	0.43988	D	0.99668	P	0.37083	0.581	P	0.51453	0.67	T	0.00072	-1.2129	9	0.87932	D	0	.	8.2794	0.31892	0.9043:0.0:0.0957:0.0	.	269	Q8NGC0	O5AU1_HUMAN	H	269	ENSP00000302057:Y269H	ENSP00000302057:Y269H	Y	-	1	0	OR5AU1	20693220	1.000000	0.71417	0.994000	0.49952	0.166000	0.22503	6.348000	0.73009	0.752000	0.32923	-0.589000	0.04120	TAC		0.488	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			4	75	0	0	0	1	0	4	75				
LRP1	4035	broad.mit.edu	37	12	57572306	57572306	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:57572306G>A	ENST00000243077.3	+	27	4992	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1509					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)	AAGTGGACCGGCCACAATGTC	0.622																																						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.(4525-4527)gGc>gAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						104.0	99.0	101.0					12																	57572306		2203	4300	6503	SO:0001583	missense	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.chr12:57572306G>A	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.4526G>A	12.37:g.57572306G>A	ENSP00000243077:p.Gly1509Asp		Somatic					p.G1509D	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4992	+			1509					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4526G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293193	0.80914	.	.	ENSG00000123384	ENST00000243077	D	0.94862	-3.54	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97651	0.9230	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98113	1.0421	10	0.56958	D	0.05	.	16.7965	0.85603	0.0:0.0:1.0:0.0	.	1509	Q07954	LRP1_HUMAN	D	1509	ENSP00000243077:G1509D	ENSP00000243077:G1509D	G	+	2	0	LRP1	55858573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	GGC		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	264	0	0	0	1	0	4	264				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe		Somatic					p.L31F	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		5	261	0	0	0	1	0	5	261				
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483																																						ENST00000379445.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(115-117)Att>Ttt		cortexin 3							158.0	140.0	146.0					5																	126993328		2203	4300	6503	SO:0001583	missense	613212					integral to membrane		g.chr5:126993328A>T	AB219764	CCDS34221.1	5q23.2	2006-09-21				ENSG00000205279			31110	protein-coding gene	gene with protein product							Standard	NM_001048252		Approved		uc003kum.4	Q4LDR2		ENST00000379445.3:c.115A>T	5.37:g.126993328A>T	ENSP00000368758:p.Ile39Phe		Somatic				CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F	p.I39F	NM_001048252.2	NP_001041717.1	WXS	Illumina GAIIx	Phase_I	Q4LDR2	CTXN3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)	3	666	+		Prostate(80;0.165)	39					B2RV32|D3DQ82	Missense_Mutation	SNP	ENST00000379445.3	37	c.115A>T	CCDS34221.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874223	0.72180	.	.	ENSG00000205279	ENST00000379445;ENST00000395322	T;T	0.36157	1.27;1.27	4.52	4.52	0.55395	.	0.112509	0.64402	D	0.000008	T	0.54759	0.1878	.	.	.	0.54753	D	0.999989	D	0.56521	0.976	P	0.59357	0.856	T	0.60419	-0.7267	9	0.72032	D	0.01	-5.1792	14.5686	0.68197	1.0:0.0:0.0:0.0	.	39	Q4LDR2	CTXN3_HUMAN	F	39	ENSP00000368758:I39F;ENSP00000378732:I39F	ENSP00000368758:I39F	I	+	1	0	CTXN3	127021227	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	2.608000	0.46308	2.254000	0.74563	0.533000	0.62120	ATT		0.483	CTXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372467.1	XM_932841		7	260	0	0	0	1	0	7	260				
GLRB	2743	broad.mit.edu	37	4	158059959	158059959	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:158059959A>T	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|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)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTTTGTTTATAGTTGGTTACA	0.259																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.e7-1		glycine receptor, beta	Glycine(DB00145)						54.0	58.0	57.0					4																	158059959		2202	4294	6496	SO:0001630	splice_region_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158059959A>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.611-1A>T	4.37:g.158059959A>T			Somatic				GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Splice_Site		NM_000824.4	NP_000815.1	WXS	Illumina GAIIx	Phase_I	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	7	880	+	all_hematologic(180;0.24)	Renal(120;0.0458)						A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	ENST00000264428.4	37		CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993392	0.54041	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5984	0.76606	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRB	158279409	1.000000	0.71417	0.984000	0.44739	0.513000	0.34164	9.246000	0.95438	2.090000	0.63153	0.528000	0.53228	.		0.259	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	Intron	3	21	0	0	0	1	0	3	21				
PSMD2	5708	broad.mit.edu	37	3	184020156	184020156	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:184020156A>T	ENST00000310118.4	+	6	1262		c.e6-1		EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Splice_Site|PSMD2_ENST00000439383.1_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				EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site|PSMD2_ENST00000435761.1_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	4	93	0	0	0	1	0	4	93				
MUC16	94025	broad.mit.edu	37	19	9089442	9089442	+	Silent	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9089442A>G	ENST00000397910.4	-	1	2576	c.2373T>C	c.(2371-2373)ccT>ccC	p.P791P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	791	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						GATGAGTCAGAGGGGAAGTTG	0.502																																						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.(2371-2373)ccT>ccC		mucin 16, cell surface associated							226.0	215.0	219.0					19																	9089442		2017	4193	6210	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089442A>G	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.2373T>C	19.37:g.9089442A>G			Somatic					p.P791P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	2576	-			791			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2373T>C	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	1611	0	0	0	1	0	34	1611				
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T	rs371619496		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2191-2193)gGt>gAt		SPHK1 interactor, AKAP domain containing		C	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	166.0	151.0	156.0		2192,2192	4.7	0.0	2		156	0,8600		0,0,4300	no	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	94,94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	731/1701,731/1672	228883378	1,13005	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883378C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2192G>A	2.37:g.228883378C>T	ENSP00000375909:p.Gly731Asp		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	p.G731D	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2238	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	731					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2192G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	2.27E-4	0.0	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	5.61	4.73	0.59995	.	0.384553	0.31897	N	0.006889	T	0.16854	0.0405	M	0.61703	1.905	0.09310	N	1	P;B	0.49635	0.926;0.441	P;B	0.44597	0.454;0.185	T	0.13229	-1.0517	10	0.25751	T	0.34	.	10.4997	0.44798	0.0:0.8349:0.0:0.1651	.	731;731	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	731	ENSP00000375909:G731D;ENSP00000339886:G731D	ENSP00000339886:G731D	G	-	2	0	SPHKAP	228591622	0.001000	0.12720	0.004000	0.12327	0.072000	0.16883	1.500000	0.35682	1.506000	0.48736	0.655000	0.94253	GGT		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		6	255	0	0	0	1	0	6	255				
ELL2	22936	broad.mit.edu	37	5	95242265	95242265	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:95242265G>T	ENST00000237853.4	-	5	1052	c.703C>A	c.(703-705)Caa>Aaa	p.Q235K	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	235					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTGTCTTTTTGATTGACACCA	0.468																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(703-705)Caa>Aaa		elongation factor, RNA polymerase II, 2							105.0	110.0	109.0					5																	95242265		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95242265G>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.703C>A	5.37:g.95242265G>T	ENSP00000237853:p.Gln235Lys		Somatic				ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	p.Q235K	NM_012081.5	NP_036213.2	WXS	Illumina GAIIx	Phase_I	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	5	1052	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	235					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.703C>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935352	0.73442	.	.	ENSG00000118985	ENST00000237853	T	0.27720	1.65	6.08	6.08	0.98989	.	0.156940	0.64402	D	0.000018	T	0.36908	0.0984	L	0.47190	1.495	0.80722	D	1	P	0.43231	0.801	B	0.43990	0.438	T	0.01371	-1.1372	10	0.35671	T	0.21	0.2173	20.2672	0.98462	0.0:0.0:1.0:0.0	.	235	O00472	ELL2_HUMAN	K	235	ENSP00000237853:Q235K	ENSP00000237853:Q235K	Q	-	1	0	ELL2	95268021	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	CAA		0.468	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		5	185	1	0	4.096e-09	1	4.62754e-09	5	185				
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.e4-2		WNT inhibitory factor 1							77.0	70.0	72.0					12																	65462686		2203	4300	6503	SO:0001630	splice_region_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462686T>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.398-2A>T	12.37:g.65462686T>A			Somatic						NM_007191.4	NP_009122.2	WXS	Illumina GAIIx	Phase_I	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	772	-								Q6UXI1|Q8WVG4	Splice_Site	SNP	ENST00000286574.4	37		CCDS8971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.968138|3.968138	0.74131|0.74131	.|.	.|.	ENSG00000156076|ENSG00000156076	ENST00000286574;ENST00000546001|ENST00000535025	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71576	.|0.3356	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71122	.|-0.4684	.|4	.|.	.|.	.|.	.|.	15.5624|15.5624	0.76258|0.76258	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|V	-1|18	.|.	.|.	.|E	-|-	.|2	.|0	WIF1|WIF1	63748953|63748953	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.896000|0.896000	0.52359|0.52359	6.654000|6.654000	0.74387|0.74387	2.142000|2.142000	0.66516|0.66516	0.533000|0.533000	0.62120|0.62120	.|GAG		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		Intron	6	108	0	0	0	1	0	6	108				
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000391982.2_Silent_p.G349G	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1045-1047)ggC>ggA		calpain 10							52.0	58.0	56.0					2																	241534490		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534490C>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1047C>A	2.37:g.241534490C>A			Somatic				CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron	p.G349G	NM_023083.3	NP_075571.1	WXS	Illumina GAIIx	Phase_I	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	7	1243	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	349			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1047C>A	CCDS42838.1																																																																																				0.632	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		15	31	1	0	8.24728e-16	1	9.53592e-16	15	31				
MYBPC1	4604	broad.mit.edu	37	12	102045089	102045089	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:102045089T>C	ENST00000550270.1	+	14	1369	c.1369T>C	c.(1369-1371)Tct>Cct	p.S457P	MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000549145.1_Missense_Mutation_p.S470P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	457	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTGTGAAATCTCTGAAAACAT	0.428																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(1408-1410)Tct>Cct		myosin binding protein C, slow type							153.0	157.0	156.0					12																	102045089		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102045089T>C		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1369T>C	12.37:g.102045089T>C	ENSP00000449702:p.Ser457Pro		Somatic				MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|RP11-755O11.2_ENST00000547027.1_RNA	p.S470P			WXS	Illumina GAIIx	Phase_I	Q00872	MYPC1_HUMAN			15	1508	+			457			Ig-like C2-type 4.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1408T>C	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584187	0.65992	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.131885	0.34700	N	0.003742	T	0.72020	0.3409	N	0.21448	0.665	0.48830	D	0.999718	D;B;B;B;B;D;B;B;D;B;B	0.76494	0.999;0.01;0.005;0.027;0.01;0.996;0.008;0.027;0.999;0.022;0.022	D;B;B;B;B;D;B;B;D;B;B	0.77557	0.99;0.021;0.034;0.021;0.028;0.982;0.012;0.028;0.989;0.016;0.028	T	0.76482	-0.2943	10	0.87932	D	0	.	15.6797	0.77357	0.0:0.0:0.0:1.0	.	438;445;457;457;444;431;457;457;482;482;470	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	P	431;457;457;457;444;443;482;470;457;482;457;438;445;482;358;457	ENSP00000448175:S431P;ENSP00000400908:S457P;ENSP00000388989:S457P;ENSP00000353822:S457P;ENSP00000376665:S444P;ENSP00000447362:S443P;ENSP00000354845:S482P;ENSP00000447660:S470P;ENSP00000447900:S457P;ENSP00000440034:S457P;ENSP00000446128:S438P;ENSP00000442847:S445P;ENSP00000354849:S482P;ENSP00000447116:S358P;ENSP00000449702:S457P	ENSP00000353822:S457P	S	+	1	0	MYBPC1	100569220	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.512000	0.81728	2.106000	0.64143	0.533000	0.62120	TCT		0.428	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			10	395	0	0	0	1	0	10	395				
STON2	85439	broad.mit.edu	37	14	81743834	81743834	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:81743834C>A	ENST00000267540.2	-	4	2021	c.1821G>T	c.(1819-1821)ggG>ggT	p.G607G	STON2_ENST00000555447.1_Silent_p.G607G|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	607	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTCTGCGAGCCCAGACAGGA	0.507																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1819-1821)ggG>ggT		stonin 2							78.0	74.0	75.0					14																	81743834		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743834C>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1821G>T	14.37:g.81743834C>A			Somatic				STON2_ENST00000267540.2_Silent_p.G607G	p.G607G	NM_001256430.1	NP_001243359.1	WXS	Illumina GAIIx	Phase_I	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2233	-			607			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1821G>T	CCDS9875.1																																																																																				0.507	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		16	157	1	0	5.3912e-06	1	5.8669e-06	16	157				
ATP1A2	477	broad.mit.edu	37	1	160091024	160091024	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:160091024C>A	ENST00000361216.3	+	3	249	c.160C>A	c.(160-162)Caa>Aaa	p.Q54K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	54					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)			CCGCAAATACCAAGTGGACCT	0.517																																						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.(160-162)Caa>Aaa		ATPase, Na+/K+ transporting, alpha 2 polypeptide							183.0	184.0	184.0					1																	160091024		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160091024C>A	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.160C>A	1.37:g.160091024C>A	ENSP00000354490:p.Gln54Lys		Somatic				ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K	p.Q54K	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)		3	249	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		54					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.160C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413271	0.42817	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.77620	-1.11;-1.11	4.56	4.56	0.56223	ATPase, P-type cation-transporter, N-terminal (2);	0.347566	0.26366	N	0.024794	T	0.46600	0.1401	N	0.20574	0.59	0.33695	D	0.613866	B	0.02656	0.0	B	0.06405	0.002	T	0.34775	-0.9815	10	0.23302	T	0.38	.	12.1703	0.54155	0.0:0.827:0.1729:0.0	.	54	P50993	AT1A2_HUMAN	K	54	ENSP00000354490:Q54K;ENSP00000376066:Q54K	ENSP00000354490:Q54K	Q	+	1	0	ATP1A2	158357648	0.910000	0.30920	1.000000	0.80357	0.996000	0.88848	1.867000	0.39499	2.363000	0.80096	0.655000	0.94253	CAA		0.517	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		9	515	1	0	3.86212e-05	1	4.14198e-05	9	515				
WFDC8	90199	broad.mit.edu	37	20	44181861	44181861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:44181861G>A	ENST00000357199.4	-	5	578	c.500C>T	c.(499-501)cCt>cTt	p.P167L	WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	167	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTGACATGAAGGTGGACACTC	0.488																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(499-501)cCt>cTt		WAP four-disulfide core domain 8							138.0	111.0	120.0					20																	44181861		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181861G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.500C>T	20.37:g.44181861G>A	ENSP00000361735:p.Pro167Leu		Somatic				WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L	p.P167L	NM_181510.2	NP_852611.2	WXS	Illumina GAIIx	Phase_I	Q8IUA0	WFDC8_HUMAN			5	578	-		Myeloproliferative disorder(115;0.0122)	167			WAP 2.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.500C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160993	0.21538	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.72282	-0.64;-0.64	4.91	-7.34	0.01427	Whey acidic protein, 4-disulphide core (5);	3.741540	0.00481	N	0.000129	T	0.50990	0.1648	N	0.25890	0.77	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.31971	-0.9924	10	0.51188	T	0.08	.	2.1689	0.03845	0.1458:0.1939:0.1772:0.4831	.	167	Q8IUA0	WFDC8_HUMAN	L	167	ENSP00000361735:P167L;ENSP00000289953:P167L	ENSP00000289953:P167L	P	-	2	0	WFDC8	43615275	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.885000	0.04161	-1.321000	0.02281	0.655000	0.94253	CCT		0.488	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			5	614	0	0	0	1	0	5	614				
SCN8A	6334	broad.mit.edu	37	12	52159702	52159702	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:52159702G>T	ENST00000354534.6	+	16	2970	c.2792G>T	c.(2791-2793)cGa>cTa	p.R931L	SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L|SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.R931L(2)|p.R931Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTGTCTTTCGAGTGTTGTGC	0.498																																						ENST00000354534.5																			3	Substitution - Missense(3)	p.R931L(2)|p.R931Q(1)	lung(2)|large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2791-2793)cGa>cTa		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						227.0	231.0	230.0					12																	52159702		2201	4300	6501	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52159702G>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2792G>T	12.37:g.52159702G>T	ENSP00000346534:p.Arg931Leu		Somatic				SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L|SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L	p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	WXS	Illumina GAIIx	Phase_I	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	16	2970	+			931					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2792G>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047945	0.93740	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98822	-4.33;-5.16;-5.16;-5.16	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.97110	1.0;0.979;1.0	D	0.98331	1.0533	10	0.87932	D	0	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	931;931;931	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	L	931;931;931;931;844	ENSP00000448415:R931L;ENSP00000346534:R931L;ENSP00000440360:R931L;ENSP00000347255:R931L	ENSP00000346534:R931L	R	+	2	0	SCN8A	50445969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	CGA		0.498	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		6	1231	1	0	2.56e-06	1	2.82746e-06	6	1231				
NCKAP1L	3071	broad.mit.edu	37	12	54901678	54901678	+	Silent	SNP	G	G	A	rs200386840		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:54901678G>A	ENST00000293373.6	+	4	427	c.348G>A	c.(346-348)caG>caA	p.Q116Q	NCKAP1L_ENST00000545638.2_Silent_p.Q66Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	116					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGCCTGCCAGTGCCATTTTG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19028	0.0		0.001	False		,,,				2504	0.0					ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(346-348)caG>caA		NCK-associated protein 1-like							236.0	223.0	227.0					12																	54901678		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54901678G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.348G>A	12.37:g.54901678G>A			Somatic				NCKAP1L_ENST00000545638.2_Silent_p.Q66Q	p.Q116Q	NM_005337.4	NP_005328.2	WXS	Illumina GAIIx	Phase_I	P55160	NCKPL_HUMAN			4	427	+			116					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.348G>A	CCDS31813.1																																																																																				0.418	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		4	641	0	0	0	1	0	4	641				
AGO4	192670	broad.mit.edu	37	1	36297167	36297167	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:36297167C>T	ENST00000373210.3	+	8	1233	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	330	PAZ. {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)										TACATACTTGCCACTCGAGGT	0.348																																						ENST00000373210.3																			0											c.(988-990)Cca>Tca		argonaute RISC catalytic component 4							97.0	100.0	99.0					1																	36297167		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36297167C>T	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.988C>T	1.37:g.36297167C>T	ENSP00000362306:p.Pro330Ser		Somatic					p.P330S	NM_017629.3	NP_060099.2	WXS	Illumina GAIIx	Phase_I					8	1233	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.988C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586219	0.86851	.	.	ENSG00000134698	ENST00000373210	T	0.21932	1.98	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	H	0.98866	4.355	0.80722	D	1	D	0.63880	0.993	D	0.79108	0.992	T	0.81904	-0.0719	10	0.87932	D	0	-10.1146	19.5182	0.95174	0.0:1.0:0.0:0.0	.	330	Q9HCK5	AGO4_HUMAN	S	330	ENSP00000362306:P330S	ENSP00000362306:P330S	P	+	1	0	EIF2C4	36069754	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCA		0.348	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		3	80	0	0	0	1	0	3	80				
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAAGCTGGAACGGCTGGATAT	0.483																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(838-840)Cgg>Agg		fibronectin leucine rich transmembrane protein 2							161.0	164.0	163.0					14																	86088696		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088696C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.838C>A	14.37:g.86088696C>A			Somatic				FLRT2_ENST00000554746.1_Silent_p.R280R	p.R280R	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1605	+			280					A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.838C>A	CCDS9877.1																																																																																				0.483	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			205	119	1	0	1.07919e-67	1	1.30918e-67	205	119				
MUC16	94025	broad.mit.edu	37	19	9065088	9065088	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9065088C>A	ENST00000397910.4	-	3	22561	c.22358G>T	c.(22357-22359)aGc>aTc	p.S7453I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7455	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						AACTGAGGTGCTGCTCAAACT	0.478																																						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.(22357-22359)aGc>aTc		mucin 16, cell surface associated							174.0	158.0	163.0					19																	9065088		1953	4167	6120	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065088C>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.22358G>T	19.37:g.9065088C>A	ENSP00000381008:p.Ser7453Ile		Somatic					p.S7453I	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	22561	-			7455			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22358G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	5.167	0.216334	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.29655	1.56	2.98	0.73	0.18271	.	.	.	.	.	T	0.36193	0.0958	L	0.36672	1.1	.	.	.	D	0.69078	0.997	D	0.64877	0.93	T	0.43589	-0.9382	8	0.87932	D	0	.	4.5225	0.11966	0.0:0.6399:0.2272:0.133	.	7453	B5ME49	.	I	7453	ENSP00000381008:S7453I	ENSP00000381008:S7453I	S	-	2	0	MUC16	8926088	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.967000	0.01508	0.274000	0.22072	0.557000	0.71058	AGC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	716	1	0	0.184627	1	0.187156	5	716				
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597																																						ENST00000221419.5																			2	Substitution - Missense(2)	p.D390H(1)|p.D257H(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1168-1170)Gat>Cat		heterogeneous nuclear ribonucleoprotein L																																				SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330801C>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1168G>C	19.37:g.39330801C>G	ENSP00000221419:p.Asp390His		Somatic				AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C|HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H	p.D390H	NM_001533.2	NP_001524.2	WXS	Illumina GAIIx	Phase_I	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1534	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		390			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.1168G>C	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524652	0.64747	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	T	0.44881	0.91	5.72	5.72	0.89469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.042814	0.85682	D	0.000000	T	0.53562	0.1804	L	0.41492	1.28	0.80722	D	1	D;B;D	0.89917	0.985;0.093;1.0	P;B;D	0.63703	0.541;0.019;0.917	T	0.34551	-0.9824	10	0.20519	T	0.43	.	18.6604	0.91470	0.0:1.0:0.0:0.0	.	390;257;373	P14866;A6NIT8;Q6NTA2	HNRPL_HUMAN;.;.	H	390;257;257	ENSP00000221419:D390H	ENSP00000221419:D390H	D	-	1	0	HNRNPL	44022641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.709000	0.92574	0.555000	0.69702	GAT		0.597	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			3	104	0	0	0	1	0	3	104				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(400-402)ttA>ttT		SMG7 nonsense mediated mRNA decay factor							78.0	83.0	81.0					1																	183495733		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495733A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.315A>T	1.37:g.183495733A>T	ENSP00000340766:p.Leu105Phe		Somatic				SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F	p.L134F			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	597	+			105					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.402A>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209266	0.58343	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.61	3.26	0.37387	Telomerase activating protein Est1 (1);	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	M	0.70275	2.135	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.999;1.0;1.0	T	0.14144	-1.0483	10	0.51188	T	0.08	-6.5871	5.7363	0.18069	0.7332:0.0:0.1402:0.1266	.	63;134;63;105;105;105	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	F	63;134;63;63;105;105;105	ENSP00000407629:L63F;ENSP00000356507:L134F;ENSP00000426915:L63F;ENSP00000388390:L63F;ENSP00000340766:L105F;ENSP00000425133:L105F;ENSP00000421358:L105F	ENSP00000340766:L105F	L	+	3	2	SMG7	181762356	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.431000	0.44775	1.056000	0.40484	0.533000	0.62120	TTA		0.348	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	97	0	0	0	1	0	4	97				
ZNF565	147929	broad.mit.edu	37	19	36673739	36673739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:36673739G>A	ENST00000355114.5	-	5	1975	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*	ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	417					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CGTGTGAGCTGTGCGTGCTGT	0.468																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1249-1251)Cag>Tag		zinc finger protein 565							143.0	118.0	127.0					19																	36673739		2203	4300	6503	SO:0001587	stop_gained	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673739G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1249C>T	19.37:g.36673739G>A	ENSP00000347234:p.Gln417*		Somatic				ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377*	p.Q417*			WXS	Illumina GAIIx	Phase_I	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1975	-	Esophageal squamous(110;0.162)		377					B3KQ35|Q6NUS2	Nonsense_Mutation	SNP	ENST00000355114.5	37	c.1249C>T		.	.	.	.	.	.	.	.	.	.	g	10.98	1.503500	0.26949	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	.	.	.	4.7	2.41	0.29592	.	0.000000	0.37809	N	0.001929	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	3.1828	0.06590	0.0969:0.1706:0.5563:0.1762	.	.	.	.	X	377;377;417	.	ENSP00000306869:Q377X	Q	-	1	0	ZNF565	41365579	0.000000	0.05858	0.756000	0.31282	0.002000	0.02628	-1.195000	0.03043	1.345000	0.45676	-0.142000	0.14014	CAG		0.468	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		10	353	0	0	0	1	0	10	353				
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1015-1017)caC>caA		zinc finger protein 12							63.0	68.0	66.0					7																	6731556		2196	4299	6495	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731556G>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1017C>A	7.37:g.6731556G>T	ENSP00000385939:p.His339Gln		Somatic				ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q	p.H339Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	WXS	Illumina GAIIx	Phase_I	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1558	-		Ovarian(82;0.0776)	339					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1017C>A	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622278	0.28889	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.28454	1.61;1.61;1.61	4.03	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000352	T	0.29288	0.0729	N	0.16478	0.41	0.30000	N	0.816085	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	T	0.18335	-1.0340	10	0.09338	T	0.73	.	8.2228	0.31552	0.2733:0.0:0.7267:0.0	.	339;301	P17014;P17014-5	ZNF12_HUMAN;.	Q	265;339;301;397;303	ENSP00000384405:H265Q;ENSP00000385939:H339Q;ENSP00000344745:H301Q	ENSP00000331039:H303Q	H	-	3	2	ZNF12	6698081	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.025000	0.13577	0.273000	0.22049	0.563000	0.77884	CAC		0.443	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		41	133	1	0	6.07928e-31	1	7.19786e-31	41	133				
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	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		8	219	0	0	0	1	0	8	219				
OTOGL	283310	broad.mit.edu	37	12	80764348	80764348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:80764348A>T	ENST00000547103.1	+	55	6558		c.e55-1		OTOGL_ENST00000546620.1_Splice_Site|OTOGL_ENST00000458043.2_Splice_Site			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGATTTTTAGGTAGGGAGT	0.308																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.e55-1		otogelin-like							105.0	105.0	105.0					12																	80764348		2203	4300	6503	SO:0001630	splice_region_variant	283310							g.chr12:80764348A>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6553-1A>T	12.37:g.80764348A>T			Somatic				OTOGL_ENST00000546620.1_Splice_Site|OTOGL_ENST00000547103.1_Splice_Site		NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					55	6594	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37			.	.	.	.	.	.	.	.	.	.	A	12.16	1.855117	0.32791	.	.	ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000298820;ENST00000546620;ENST00000550182	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1629	0.72798	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOGL	79288479	1.000000	0.71417	0.976000	0.42696	0.110000	0.19582	8.457000	0.90361	2.074000	0.62210	0.482000	0.46254	.		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Intron	5	117	0	0	0	1	0	5	117				
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000414361.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.e19-1		threonyl-tRNA synthetase	L-Threonine(DB00156)						59.0	53.0	55.0					5																	33467663		2203	4300	6503	SO:0001630	splice_region_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467663A>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2024-1A>T	5.37:g.33467663A>T			Somatic				TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000502553.1_Splice_Site		NM_152295.4	NP_689508.3	WXS	Illumina GAIIx	Phase_I	P26639	SYTC_HUMAN			19	2334	+								A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Splice_Site	SNP	ENST00000265112.3	37		CCDS3899.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268659	0.80469	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6393	0.76984	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TARS	33503420	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	9.211000	0.95120	2.091000	0.63221	0.455000	0.32223	.		0.408	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	Intron	4	87	0	0	0	1	0	4	87				
EIF3A	8661	broad.mit.edu	37	10	120801744	120801744	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:120801744G>A	ENST00000369144.3	-	19	3415	c.3288C>T	c.(3286-3288)gaC>gaT	p.D1096D	EIF3A_ENST00000541549.1_Silent_p.D1062D	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TGGGACCCCGGTCATCATCCA	0.622																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3286-3288)gaC>gaT		eukaryotic translation initiation factor 3, subunit A							77.0	90.0	85.0					10																	120801744		2196	4294	6490	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801744G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3288C>T	10.37:g.120801744G>A			Somatic				EIF3A_ENST00000541549.1_Silent_p.D1062D|EIF3A_ENST00000478852.1_Intron	p.D1096D	NM_003750.2	NP_003741.1	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3415	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1096			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.3288C>T	CCDS7608.1																																																																																				0.622	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		8	397	0	0	0	1	0	8	397				
UBC	7316	broad.mit.edu	37	12	125397946	125397946	+	Silent	SNP	C	C	T	rs577374084	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:125397946C>T	ENST00000538617.1	-	3	688	c.372G>A	c.(370-372)aaG>aaA	p.K124K	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000536769.1_Silent_p.K124K|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	504	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.K124K(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTCCAGCTGCTTTCCGGCAA	0.542													-|||	3	0.000599042	0.0	0.0	5008	,	,		28580	0.0		0.0	False		,,,				2504	0.0031					ENST00000536769.1																			1	Substitution - coding silent(1)	p.K124K(1)	endometrium(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(370-372)aaG>aaA		ubiquitin C							145.0	138.0	140.0					12																	125397946		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397946C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.372G>A	12.37:g.125397946C>T			Somatic				UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.K124K|UBC_ENST00000339647.5_Silent_p.K124K	p.K124K			WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1948	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		124			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.372G>A																																																																																					0.542	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		18	455	0	0	0	1	0	18	455				
SLC13A5	284111	broad.mit.edu	37	17	6607201	6607201	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:6607201C>A	ENST00000433363.2	-	4	776	c.543G>T	c.(541-543)ctG>ctT	p.L181L	SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L|SLC13A5_ENST00000573648.1_Silent_p.L181L	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	181					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)	p.L181L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTCACCTGGCAGCTCCTTGG	0.642																																						ENST00000433363.2																			3	Substitution - coding silent(3)	p.L181L(3)	prostate(2)|lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(541-543)ctG>ctT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							36.0	34.0	35.0					17																	6607201		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6607201C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.543G>T	17.37:g.6607201C>A			Somatic				SLC13A5_ENST00000573648.1_Silent_p.L181L|SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L	p.L181L	NM_177550.3	NP_808218.1	WXS	Illumina GAIIx	Phase_I	Q86YT5	S13A5_HUMAN			4	776	-			181					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.543G>T	CCDS11079.1																																																																																				0.642	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		6	50	1	0	3.86212e-05	1	4.14198e-05	6	50				
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	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.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(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)		ACCGATACTTTTCTCCAAATT	0.338		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"""		55	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(3)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(14)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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.(1009-1011)ttT>ttA		phosphatase and tensin homolog							52.0	55.0	54.0					10																	89720860		2203	4299	6502	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.chr10:89720860T>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.1011T>A	10.37:g.89720860T>A	ENSP00000361021:p.Phe337Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.F337L	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)	8	2368	+		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)	337			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1011T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306212	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.86769	-2.17	5.37	1.83	0.25207	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.73962	2.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.67103	0.949	D	0.88493	0.3077	9	.	.	.	0.0365	8.9952	0.36048	0.0:0.3848:0.0:0.6152	.	337	P60484	PTEN_HUMAN	L	337	ENSP00000361021:F337L	.	F	+	3	2	PTEN	89710840	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.461000	0.21940	0.366000	0.24427	-0.353000	0.07706	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		12	130	0	0	0	1	0	12	130				
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1240-1242)gaG>gaC		interleukin 1 receptor-like 2							118.0	113.0	115.0					2																	102849529		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849529G>C	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1242G>C	2.37:g.102849529G>C	ENSP00000264257:p.Glu414Asp		Somatic				IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR	p.E414D	NM_003854.2	NP_003845.2	WXS	Illumina GAIIx	Phase_I	Q9HB29	ILRL2_HUMAN			10	1368	+			414			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1242G>C	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102729	0.56183	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.10005	2.92;2.92;2.92	6.07	5.2	0.72013	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.106321	0.64402	D	0.000007	T	0.38639	0.1048	M	0.91196	3.185	0.41327	D	0.987213	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44221	-0.9342	10	0.87932	D	0	.	9.3919	0.38378	0.2223:0.0:0.7777:0.0	.	296;414	A4FU63;Q9HB29	.;ILRL2_HUMAN	D	414;296;414	ENSP00000264257:E414D;ENSP00000413348:E296D;ENSP00000442184:E414D	ENSP00000264257:E414D	E	+	3	2	IL1RL2	102215961	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	2.498000	0.45363	1.587000	0.49959	-0.136000	0.14681	GAG		0.448	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		85	141	0	0	0	1	0	85	141				
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000546711.1_Missense_Mutation_p.P911T|FGD6_ENST00000549499.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2731-2733)Cca>Aca		FYVE, RhoGEF and PH domain containing 6							118.0	107.0	111.0					12																	95535270		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535270G>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2731C>A	12.37:g.95535270G>T	ENSP00000344446:p.Pro911Thr		Somatic				FGD6_ENST00000546711.1_Missense_Mutation_p.P911T|FGD6_ENST00000549499.1_Missense_Mutation_p.P911T	p.P911T	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			6	2954	-			911			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2731C>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709621	0.68730	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	3.79	0.43588	Dbl homology (DH) domain (5);	0.147341	0.31797	N	0.007055	T	0.77685	0.4167	M	0.76002	2.32	0.53688	D	0.999978	D	0.71674	0.998	D	0.67382	0.951	T	0.80663	-0.1282	10	0.87932	D	0	-4.419	15.9087	0.79450	0.0:0.2764:0.7236:0.0	.	911	Q6ZV73	FGD6_HUMAN	T	911	ENSP00000344446:P911T;ENSP00000450342:P911T;ENSP00000449005:P911T	ENSP00000344446:P911T	P	-	1	0	FGD6	94059401	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.328000	0.59253	0.686000	0.31488	0.563000	0.77884	CCA		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		77	99	1	0	1.53276e-45	1	1.82942e-45	77	99				
SCN5A	6331	broad.mit.edu	37	3	38655278	38655278	+	Missense_Mutation	SNP	G	G	C	rs45620037		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:38655278G>C	ENST00000333535.4	-	6	808	c.659C>G	c.(658-660)aCc>aGc	p.T220S	SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000443581.1_Missense_Mutation_p.T220S|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000450102.2_Intron			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	220			T -> I (in SSS1; dbSNP:rs45620037). {ECO:0000269|PubMed:14523039}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GACTCGGAAGGTGCGTAAGGC	0.478																																						ENST00000443581.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM033019	SCN5A	M	rs45620037	c.(658-660)aCc>aGc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						50.0	53.0	52.0					3																	38655278		2016	4204	6220	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38655278G>C	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.659C>G	3.37:g.38655278G>C	ENSP00000328968:p.Thr220Ser		Somatic				SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T220S	p.T220S	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	6	852	-	Medulloblastoma(35;0.163)		220		T -> I (in SSS1; dbSNP:rs45620037).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.659C>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622482	0.87460	.	.	ENSG00000183873	ENST00000423572;ENST00000443581;ENST00000333535;ENST00000449557	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98804	0.9597	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.85130	0.866;0.997	D	0.99675	1.0997	10	0.62326	D	0.03	.	17.0399	0.86486	0.0:0.0:1.0:0.0	.	220;220	Q14524;Q14524-2	SCN5A_HUMAN;.	S	220	ENSP00000398266:T220S;ENSP00000397915:T220S;ENSP00000328968:T220S;ENSP00000413996:T220S	ENSP00000328968:T220S	T	-	2	0	SCN5A	38630282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.249000	0.74217	0.555000	0.69702	ACC		0.478	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	24	0	0	0	1	0	3	24				
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:72420855A>T	ENST00000264485.5	+	21	2811		c.e21-1		SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						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)	TTTTCCTTCTAGTTTATACCC	0.323																																						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.e18-1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							224.0	228.0	227.0					4																	72420855		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420855A>T	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.2695-1A>T	4.37:g.72420855A>T			Somatic				SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site		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)		18	2758	+								C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37		CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281305	0.80692	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72639719	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	9.253000	0.95501	2.320000	0.78422	0.528000	0.53228	.		0.323	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron	8	427	0	0	0	1	0	8	427				
ENTPD5	957	broad.mit.edu	37	14	74444079	74444079	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:74444079T>A	ENST00000334696.6	-	7	761		c.e7-2		ENTPD5_ENST00000557325.1_Splice_Site	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5						'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTCCTTTACCTAGAGAAAAAG	0.388																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.e7-2		ectonucleoside triphosphate diphosphohydrolase 5							67.0	60.0	62.0					14																	74444079		2203	4300	6503	SO:0001630	splice_region_variant	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74444079T>A	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.442-2A>T	14.37:g.74444079T>A			Somatic				ENTPD5_ENST00000557325.1_Splice_Site		NM_001249.2	NP_001240.1	WXS	Illumina GAIIx	Phase_I	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	7	761	-								A1L4C5|Q96RX0	Splice_Site	SNP	ENST00000334696.6	37		CCDS9825.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939627	0.73557	.	.	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.683	0.69031	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENTPD5	73513832	1.000000	0.71417	0.967000	0.41034	0.850000	0.48378	6.831000	0.75324	2.131000	0.65755	0.533000	0.62120	.		0.388	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249	Intron	4	77	0	0	0	1	0	4	77				
TTC30A	92104	broad.mit.edu	37	2	178482598	178482598	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:178482598G>A	ENST00000355689.5	-	1	1096	c.832C>T	c.(832-834)Cca>Tca	p.P278S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	278					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCCCTGGGTGGCATGTCGGTG	0.507																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(832-834)Cca>Tca		tetratricopeptide repeat domain 30A							128.0	137.0	134.0					2																	178482598		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482598G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.832C>T	2.37:g.178482598G>A	ENSP00000347915:p.Pro278Ser		Somatic				AC073834.3_ENST00000357045.4_RNA	p.P278S	NM_152275.3	NP_689488.3	WXS	Illumina GAIIx	Phase_I	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1096	-			278					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.832C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810278	0.50421	.	.	ENSG00000197557	ENST00000355689	T	0.33216	1.42	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.93197	3.39	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.74194	-0.3744	10	0.72032	D	0.01	.	20.0827	0.97786	0.0:0.0:1.0:0.0	.	278	Q86WT1	TT30A_HUMAN	S	278	ENSP00000347915:P278S	ENSP00000347915:P278S	P	-	1	0	TTC30A	178190844	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.979000	0.56888	2.755000	0.94549	0.549000	0.68633	CCA		0.507	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		5	398	0	0	0	1	0	5	398				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000455934.2_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	48	0	0	0	1	0	4	48				
RPAP1	26015	broad.mit.edu	37	15	41815528	41815528	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:41815528G>T	ENST00000304330.4	-	18	2577	c.2461C>A	c.(2461-2463)Ctc>Atc	p.L821I	RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	821						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L821I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTCCTGGAGCCAATCCTCC	0.577																																						ENST00000304330.4																			1	Substitution - Missense(1)	p.L821I(1)	kidney(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2461-2463)Ctc>Atc		RNA polymerase II associated protein 1							37.0	39.0	38.0					15																	41815528		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41815528G>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2461C>A	15.37:g.41815528G>T	ENSP00000306123:p.Leu821Ile		Somatic				RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I	p.L821I	NM_015540.2	NP_056355.2	WXS	Illumina GAIIx	Phase_I	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	18	2577	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	821					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2461C>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525485	0.64860	.	.	ENSG00000103932	ENST00000304330	T	0.67345	-0.26	5.7	5.7	0.88788	.	0.218096	0.37577	N	0.002036	T	0.77805	0.4185	M	0.66939	2.045	0.36757	D	0.88309	D	0.89917	1.0	D	0.71184	0.972	T	0.82629	-0.0363	10	0.87932	D	0	-13.6196	10.1363	0.42708	0.0942:0.0:0.9058:0.0	.	821	Q9BWH6	RPAP1_HUMAN	I	821	ENSP00000306123:L821I	ENSP00000306123:L821I	L	-	1	0	RPAP1	39602820	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	4.664000	0.61540	2.679000	0.91253	0.655000	0.94253	CTC		0.577	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		5	46	1	0	0.00307968	1	0.00320981	5	46				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	24	0	0	0	1	0	5	24				
ZFHX3	463	broad.mit.edu	37	16	72828641	72828641	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:72828641G>T	ENST00000268489.5	-	9	8612	c.7940C>A	c.(7939-7941)aCc>aAc	p.T2647N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1733N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2647					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)				CGGTGTGATGGTTGTTCTCAA	0.502																																						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.(7939-7941)aCc>aAc		zinc finger homeobox 3							280.0	296.0	291.0					16																	72828641		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.chr16:72828641G>T	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.7940C>A	16.37:g.72828641G>T	ENSP00000268489:p.Thr2647Asn		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1733N	p.T2647N	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	8612	-		Ovarian(137;0.13)	2647					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7940C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504663	0.26949	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.96104	-3.91;-3.91	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.51477	D	0.000089	D	0.97371	0.9140	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97802	1.0245	10	0.87932	D	0	.	19.683	0.95971	0.0:0.0:1.0:0.0	.	2647	Q15911	ZFHX3_HUMAN	N	2647;1733	ENSP00000268489:T2647N;ENSP00000438926:T1733N	ENSP00000268489:T2647N	T	-	2	0	ZFHX3	71386142	1.000000	0.71417	0.937000	0.37676	0.800000	0.45204	9.869000	0.99810	2.653000	0.90120	0.561000	0.74099	ACC		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	819	1	0	0.000274275	1	0.000289948	7	819				
OR2L13	284521	broad.mit.edu	37	1	248262935	248262935	+	Silent	SNP	C	C	T	rs548586823	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:248262935C>T	ENST00000358120.2	+	2	403	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OR2L13_ENST00000366478.2_Silent_p.S86S			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTTCCTGTCCGGCCAGAAAG	0.542													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21740	0.0		0.0	False		,,,				2504	0.002					ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(256-258)tcC>tcT		olfactory receptor, family 2, subfamily L, member 13							235.0	208.0	217.0					1																	248262935		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262935C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.258C>T	1.37:g.248262935C>T			Somatic				OR2L13_ENST00000358120.2_Silent_p.S86S	p.S86S	NM_175911.2	NP_787107.1	WXS	Illumina GAIIx	Phase_I	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	595	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		86					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.258C>T	CCDS1637.1																																																																																				0.542	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		4	627	0	0	0	1	0	4	627				
GHSR	2693	broad.mit.edu	37	3	172165637	172165637	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:172165637G>T	ENST00000241256.2	-	1	609	c.567C>A	c.(565-567)ggC>ggA	p.G189G	GHSR_ENST00000427970.1_Silent_p.G189G	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	189					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAGGGTCGGTGCCGTTCTCGT	0.642																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(565-567)ggC>ggA		growth hormone secretagogue receptor							46.0	41.0	42.0					3																	172165637		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165637G>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.567C>A	3.37:g.172165637G>T			Somatic				GHSR_ENST00000427970.1_Silent_p.G189G	p.G189G	NM_198407.2	NP_940799.1	WXS	Illumina GAIIx	Phase_I	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	609	-	Ovarian(172;0.00143)|Breast(254;0.197)		189					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.567C>A	CCDS3218.1																																																																																				0.642	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		6	91	1	0	5.9392e-07	1	6.60903e-07	6	91				
KANK4	163782	broad.mit.edu	37	1	62739504	62739504	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:62739504G>A	ENST00000371153.4	-	3	1650	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	424						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACGACTCCCTGGTCAAGAGTC	0.557																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1270-1272)acC>acT		KN motif and ankyrin repeat domains 4							214.0	193.0	200.0					1																	62739504		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62739504G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1272C>T	1.37:g.62739504G>A			Somatic				KANK4_ENST00000354381.3_Intron	p.T424T	NM_181712.4	NP_859063.3	WXS	Illumina GAIIx	Phase_I	Q5T7N3	KANK4_HUMAN			3	1650	-			424					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.1272C>T	CCDS620.1																																																																																				0.557	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		4	462	0	0	0	1	0	4	462				
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A	rs587687865		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106110141G>A	ENST00000390545.2	-	0	476							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m 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)										CCTCCACGCCGTCCACGTACC	0.617													N|||	1	0.000199681	0.0	0.0014	5008	,	,		22764	0.0		0.0	False		,,,				2504	0.0					ENST00000390545.2																			0																				201.0	179.0	186.0					14																	106110141		2178	4269	6447			3501							g.chr14:106110141G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110141G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	476	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.617	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		504	789	0	0	0	1	0	504	789				
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	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		5	655	0	0	0	1	0	5	655				
TERT	7015	broad.mit.edu	37	5	1278808	1278808	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:1278808G>A	ENST00000310581.5	-	6	2291	c.2234C>T	c.(2233-2235)gCc>gTc	p.A745V	TERT_ENST00000296820.5_Missense_Mutation_p.A745V|TERT_ENST00000508104.2_Missense_Mutation_p.A745V|TERT_ENST00000334602.6_Missense_Mutation_p.A745V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	745	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTGGACCACGGCATACCGACG	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2233-2235)gCc>gTc		telomerase reverse transcriptase							440.0	366.0	391.0					5																	1278808		2203	4300	6503	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1278808G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2234C>T	5.37:g.1278808G>A	ENSP00000309572:p.Ala745Val		Somatic				TERT_ENST00000508104.2_Missense_Mutation_p.A745V|TERT_ENST00000296820.5_Missense_Mutation_p.A745V|TERT_ENST00000334602.6_Missense_Mutation_p.A745V	p.A745V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	WXS	Illumina GAIIx	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	2291	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		745			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2234C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	g	14.89	2.669687	0.47677	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.97404	-4.37;-4.23;-4.37;-4.23	4.62	4.62	0.57501	Reverse transcriptase (2);	0.112691	0.64402	D	0.000012	D	0.97773	0.9269	L	0.57536	1.79	0.46499	D	0.999079	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.994	D	0.97974	1.0345	10	0.46703	T	0.11	-22.8473	15.6626	0.77199	0.0:0.0:1.0:0.0	.	745;745;733	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	V	745	ENSP00000309572:A745V;ENSP00000296820:A745V;ENSP00000334346:A745V;ENSP00000426042:A745V	ENSP00000296820:A745V	A	-	2	0	TERT	1331808	0.908000	0.30866	0.032000	0.17829	0.003000	0.03518	5.218000	0.65257	2.121000	0.65114	0.556000	0.70494	GCC		0.602	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	592	0	0	0	1	0	5	592				
TTN	7273	broad.mit.edu	37	2	179434473	179434473	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:179434473A>T	ENST00000591111.1	-	276	71687	c.71463T>A	c.(71461-71463)aaT>aaA	p.N23821K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N25462K|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23821	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TGTTTGTTTTATTAATTCCTG	0.383																																						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.(76384-76386)aaT>aaA		titin							100.0	90.0	93.0					2																	179434473		1873	4112	5985	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434473A>T	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.71463T>A	2.37:g.179434473A>T	ENSP00000465570:p.Asn23821Lys		Somatic				TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.N25462K	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)		326	76610	-			23821			Fibronectin type-III 85.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76386T>A		.	.	.	.	.	.	.	.	.	.	A	14.56	2.573187	0.45902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.92	1.02	0.19986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22513	0.0543	N	0.02420	-0.555	0.26996	N	0.965015	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.17715	-1.0360	9	0.87932	D	0	.	1.7774	0.03025	0.4034:0.2327:0.2581:0.1058	.	16397;16522;16589;23821	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22894;16397;16589;16522;16395	ENSP00000343764:N22894K;ENSP00000434586:N16397K;ENSP00000340554:N16589K;ENSP00000352154:N16522K	ENSP00000340554:N16589K	N	-	3	2	TTN	179142719	0.144000	0.22641	0.891000	0.34965	0.994000	0.84299	-0.260000	0.08708	0.156000	0.19299	0.533000	0.62120	AAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	102	0	0	0	1	0	4	102				
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1266					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAATAGAAATTAAAAGCAAAA	0.443																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3796-3798)atT>atA		natural killer-tumor recognition sequence							82.0	88.0	86.0					3																	42680994		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680994T>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3798T>A	3.37:g.42680994T>A			Somatic				RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.I1266I	NM_005385.3	NP_005376.2	WXS	Illumina GAIIx	Phase_I	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3986	+			1266						Silent	SNP	ENST00000232978.8	37	c.3798T>A	CCDS2702.1																																																																																				0.443	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		6	143	0	0	0	1	0	6	143				
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9071105C>T	ENST00000397910.4	-	3	16544	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5449	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						GTGTGGCTTTCGATGTCTCTG	0.493																																						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.(16339-16341)tcG>tcA		mucin 16, cell surface associated							216.0	208.0	211.0					19																	9071105		2086	4209	6295	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071105C>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.16341G>A	19.37:g.9071105C>T			Somatic					p.S5447S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	16544	-			5449			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.16341G>A	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	1008	0	0	0	1	0	8	1008				
TMCO5A	145942	broad.mit.edu	37	15	38233348	38233348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:38233348A>T	ENST00000319669.4	+	6	489		c.e6-1		TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000558158.1_Splice_Site	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A							integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCTTTCTTTAGGTTAAGTTA	0.488																																						ENST00000558158.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.e7-1		transmembrane and coiled-coil domains 5A							99.0	88.0	92.0					15																	38233348		2200	4297	6497	SO:0001630	splice_region_variant	145942					integral to membrane		g.chr15:38233348A>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.388-1A>T	15.37:g.38233348A>T			Somatic				TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N6Q1	TMC5A_HUMAN			7	541	+								Q8NA63	Splice_Site	SNP	ENST00000319669.4	37		CCDS10046.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262599	0.23051	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8839	0.52592	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMCO5A	36020640	0.982000	0.34865	0.552000	0.28243	0.163000	0.22366	3.953000	0.56699	2.367000	0.80283	0.528000	0.53228	.		0.488	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453	Intron	6	280	0	0	0	1	0	6	280				
PDE1B	5153	broad.mit.edu	37	12	54963015	54963015	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:54963015C>T	ENST00000243052.3	+	4	711	c.275C>T	c.(274-276)gCc>gTc	p.A92V	PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000394277.3_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	92					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CGGTCAGATGCCGTGCCTTCG	0.632																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(274-276)gCc>gTc		phosphodiesterase 1B, calmodulin-dependent							65.0	68.0	67.0					12																	54963015		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963015C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.275C>T	12.37:g.54963015C>T	ENSP00000243052:p.Ala92Val		Somatic				PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000394277.3_Intron	p.A92V	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			4	711	+			92					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.275C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777110	0.70107	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69561	-0.41;-0.4;-0.4	4.97	4.97	0.65823	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.294335	0.33005	N	0.005381	T	0.65302	0.2678	L	0.32530	0.975	0.47341	D	0.999398	P;P	0.38250	0.57;0.624	B;P	0.45913	0.363;0.497	T	0.67749	-0.5590	10	0.52906	T	0.07	.	16.096	0.81123	0.0:1.0:0.0:0.0	.	72;92	Q01064-2;Q01064	.;PDE1B_HUMAN	V	92;51;72	ENSP00000243052:A92V;ENSP00000442559:A51V;ENSP00000448519:A72V	ENSP00000243052:A92V	A	+	2	0	PDE1B	53249282	0.971000	0.33674	0.932000	0.37286	0.985000	0.73830	3.950000	0.56676	2.459000	0.83118	0.655000	0.94253	GCC		0.632	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			4	529	0	0	0	1	0	4	529				
ETFDH	2110	broad.mit.edu	37	4	159618713	159618713	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:159618713A>T	ENST00000511912.1	+	8	1166	c.834A>T	c.(832-834)ttA>ttT	p.L278F	ETFDH_ENST00000307738.5_Missense_Mutation_p.L231F	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	278					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTTTAGTTATGGGTTATTG	0.348																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(832-834)ttA>ttT		electron-transferring-flavoprotein dehydrogenase							70.0	72.0	71.0					4																	159618713		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159618713A>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.834A>T	4.37:g.159618713A>T	ENSP00000426638:p.Leu278Phe		Somatic				ETFDH_ENST00000307738.5_Missense_Mutation_p.L231F	p.L278F	NM_004453.2	NP_004444.2	WXS	Illumina GAIIx	Phase_I	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	8	1166	+	all_hematologic(180;0.24)	Renal(120;0.0458)	278					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.834A>T	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798667	0.70567	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.96396	-3.53;-4.0;-3.53	5.55	1.9	0.25705	.	0.068138	0.64402	D	0.000017	D	0.97498	0.9181	M	0.91459	3.21	0.53005	D	0.999961	D;D;D	0.63046	0.972;0.972;0.992	P;P;P	0.62649	0.823;0.823;0.905	D	0.95631	0.8689	10	0.87932	D	0	-0.9934	4.348	0.11141	0.5678:0.0:0.2923:0.1399	.	231;217;278	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	F	278;113;231	ENSP00000426638:L278F;ENSP00000422735:L113F;ENSP00000303552:L231F	ENSP00000303552:L231F	L	+	3	2	ETFDH	159838163	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.007000	0.40883	0.408000	0.25621	0.533000	0.62120	TTA		0.348	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			4	105	0	0	0	1	0	4	105				
C16orf72	29035	broad.mit.edu	37	16	9210552	9210552	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:9210552G>A	ENST00000327827.7	+	4	1008	c.611G>A	c.(610-612)aGc>aAc	p.S204N		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	204										endometrium(4)|large_intestine(2)|lung(2)	8						GCTAGTATAAGCGTGCGTTCG	0.433																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(610-612)aGc>aAc		chromosome 16 open reading frame 72							190.0	182.0	185.0					16																	9210552		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9210552G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.611G>A	16.37:g.9210552G>A	ENSP00000331720:p.Ser204Asn		Somatic					p.S204N	NM_014117.2	NP_054836.2	WXS	Illumina GAIIx	Phase_I	Q14CZ0	CP072_HUMAN			4	1008	+			204						Missense_Mutation	SNP	ENST00000327827.7	37	c.611G>A	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150126	0.78001	.	.	ENSG00000182831	ENST00000327827	T	0.49139	0.79	5.58	5.58	0.84498	.	0.163442	0.64402	D	0.000002	T	0.70439	0.3224	M	0.73598	2.24	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.72064	-0.4403	10	0.62326	D	0.03	-3.1973	19.569	0.95405	0.0:0.0:1.0:0.0	.	204	Q14CZ0	CP072_HUMAN	N	204	ENSP00000331720:S204N	ENSP00000331720:S204N	S	+	2	0	C16orf72	9118053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.499000	0.66937	2.637000	0.89404	0.585000	0.79938	AGC		0.433	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		6	665	0	0	0	1	0	6	665				
MACROD2	140733	broad.mit.edu	37	20	15948196	15948196	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:15948196A>T	ENST00000310348.4	+	13	907		c.e13-1		MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000217246.4_Splice_Site			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2						brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTGTTGTTAGATTTTGCAA	0.363																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.e13-1		MACRO domain containing 2							99.0	103.0	102.0					20																	15948196		2203	4300	6503	SO:0001630	splice_region_variant	140733							g.chr20:15948196A>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.908-1A>T	20.37:g.15948196A>T			Somatic				MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000310348.4_Splice_Site		NM_080676.5	NP_542407.2	WXS	Illumina GAIIx	Phase_I	A1Z1Q3	MACD2_HUMAN			13	1302	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)						A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37		CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553329	0.27739	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9708	0.58511	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACROD2	15896196	0.998000	0.40836	0.922000	0.36590	0.106000	0.19336	4.691000	0.61738	2.136000	0.66102	0.533000	0.62120	.		0.363	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Intron	6	155	0	0	0	1	0	6	155				
WRN	7486	broad.mit.edu	37	8	30973983	30973983	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:30973983C>T	ENST00000298139.5	+	20	2636	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	796	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACATACCATGCGGGCATGAGT	0.393			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2386-2388)gCg>gTg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							128.0	119.0	122.0					8																	30973983		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30973983C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2387C>T	8.37:g.30973983C>T	ENSP00000298139:p.Ala796Val		Somatic					p.A796V	NM_000553.4	NP_000544.2	WXS	Illumina GAIIx	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	20	2636	+		Breast(100;0.195)	796			Helicase C-terminal.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2387C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981305	0.93044	.	.	ENSG00000165392	ENST00000298139	T	0.05649	3.41	5.66	5.66	0.87406	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68838	-0.5303	10	0.87932	D	0	-20.3066	19.3326	0.94297	0.0:1.0:0.0:0.0	.	206;796	Q59F09;Q14191	.;WRN_HUMAN	V	796	ENSP00000298139:A796V	ENSP00000298139:A796V	A	+	2	0	WRN	31093525	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.196000	0.72094	2.663000	0.90544	0.557000	0.71058	GCG		0.393	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	267	0	0	0	1	0	5	267				
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2791-2793)gtA>gtT		hephaestin-like 1							144.0	143.0	143.0					11																	93837804		1863	4090	5953	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837804A>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2793A>T	11.37:g.93837804A>T			Somatic					p.V931V	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			16	2801	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	931			Plastocyanin-like 6.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2793A>T	CCDS44710.1																																																																																				0.373	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		10	357	0	0	0	1	0	10	357				
ELL2	22936	broad.mit.edu	37	5	95242266	95242266	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:95242266A>T	ENST00000237853.4	-	5	1051	c.702T>A	c.(700-702)aaT>aaA	p.N234K	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	234					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGTCTTTTTGATTGACACCAT	0.468																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(700-702)aaT>aaA		elongation factor, RNA polymerase II, 2							106.0	111.0	110.0					5																	95242266		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95242266A>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.702T>A	5.37:g.95242266A>T	ENSP00000237853:p.Asn234Lys		Somatic				ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	p.N234K	NM_012081.5	NP_036213.2	WXS	Illumina GAIIx	Phase_I	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	5	1051	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	234					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.702T>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316314	0.60524	.	.	ENSG00000118985	ENST00000237853	T	0.28666	1.6	6.08	3.62	0.41486	.	0.128670	0.64402	D	0.000001	T	0.28962	0.0719	L	0.32530	0.975	0.80722	D	1	P	0.47253	0.892	P	0.48368	0.575	T	0.03673	-1.1014	10	0.62326	D	0.03	7.2706	9.221	0.37377	0.7392:0.0:0.2608:0.0	.	234	O00472	ELL2_HUMAN	K	234	ENSP00000237853:N234K	ENSP00000237853:N234K	N	-	3	2	ELL2	95268022	0.991000	0.36638	1.000000	0.80357	0.981000	0.71138	0.675000	0.25232	1.088000	0.41272	0.482000	0.46254	AAT		0.468	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		4	183	0	0	0	1	0	4	183				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A			Somatic				FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	6	159	0	0	0	1	0	6	159				
TDRD1	56165	broad.mit.edu	37	10	115973808	115973808	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:115973808T>C	ENST00000369280.1	+	16	2607	c.2147T>C	c.(2146-2148)gTa>gCa	p.V716A	TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000251864.2_Missense_Mutation_p.V716A			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	716					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GACCAAACAGTAGATGTTGTG	0.363																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2146-2148)gTa>gCa		tudor domain containing 1							279.0	257.0	265.0					10																	115973808		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115973808T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2147T>C	10.37:g.115973808T>C	ENSP00000358286:p.Val716Ala		Somatic				TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000369280.1_Missense_Mutation_p.V716A	p.V716A	NM_198795.1	NP_942090.1	WXS	Illumina GAIIx	Phase_I	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	16	2300	+		Colorectal(252;0.172)|Breast(234;0.188)	716					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2147T>C		.	.	.	.	.	.	.	.	.	.	T	17.70	3.454608	0.63290	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.47	5.47	0.80525	Maternal tudor protein (1);	0.367476	0.28279	N	0.015929	T	0.32912	0.0845	M	0.85777	2.775	0.09310	N	0.999993	D;D;D;D;P	0.58268	0.967;0.982;0.977;0.977;0.95	P;P;P;P;P	0.61275	0.886;0.772;0.741;0.641;0.631	T	0.26052	-1.0114	10	0.40728	T	0.16	-9.4495	13.2856	0.60241	0.0:0.0:0.0:1.0	.	320;716;659;716;659	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	A	716;716;659;320;716	ENSP00000358288:V716A;ENSP00000251864:V716A;ENSP00000358287:V659A;ENSP00000402794:V320A;ENSP00000358286:V716A	ENSP00000251864:V716A	V	+	2	0	TDRD1	115963798	0.965000	0.33210	0.529000	0.27951	0.937000	0.57800	4.046000	0.57376	2.063000	0.61619	0.460000	0.39030	GTA		0.363	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			4	140	0	0	0	1	0	4	140				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	23	0	0	0	1	0	5	23				
LOC101927905	101927905	broad.mit.edu	37	12	8386947	8386947	+	lincRNA	SNP	T	T	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:8386947T>G	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							GGAGCCCGCTTGTGCTCCTGG	0.632																																						ENST00000427893.2																			0																																																			653113							g.chr12:8386947T>G																													12.37:g.8386947T>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	819	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.632	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			6	156	0	0	0	1	0	6	156				
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	AC008752.3_ENST00000582439.1_RNA|OLFM2_ENST00000590841.1_Silent_p.P274P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642																																						ENST00000264833.4																			1	Substitution - coding silent(1)	p.P352P(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1054-1056)ccG>ccA		olfactomedin 2							71.0	67.0	69.0					19																	9965171		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9965171C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1056G>A	19.37:g.9965171C>T			Somatic				OLFM2_ENST00000590841.1_Silent_p.P274P	p.P352P	NM_058164.2	NP_477512.1	WXS	Illumina GAIIx	Phase_I	O95897	NOE2_HUMAN			6	1241	-			352			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.1056G>A	CCDS12221.1																																																																																				0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			4	135	0	0	0	1	0	4	135				
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	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.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(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)		ACCGATACTTTTCTCCAAATT	0.338		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"""		55	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(3)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(14)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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.(1009-1011)ttT>ttA		phosphatase and tensin homolog							52.0	55.0	54.0					10																	89720860		2203	4299	6502	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.chr10:89720860T>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.1011T>A	10.37:g.89720860T>A	ENSP00000361021:p.Phe337Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.F337L	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)	8	2368	+		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)	337			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1011T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306212	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.86769	-2.17	5.37	1.83	0.25207	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.73962	2.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.67103	0.949	D	0.88493	0.3077	9	.	.	.	0.0365	8.9952	0.36048	0.0:0.3848:0.0:0.6152	.	337	P60484	PTEN_HUMAN	L	337	ENSP00000361021:F337L	.	F	+	3	2	PTEN	89710840	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.461000	0.21940	0.366000	0.24427	-0.353000	0.07706	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		4	93	0	0	0	1	0	4	93				
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1240-1242)gaG>gaC		interleukin 1 receptor-like 2							118.0	113.0	115.0					2																	102849529		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849529G>C	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1242G>C	2.37:g.102849529G>C	ENSP00000264257:p.Glu414Asp		Somatic				IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000481806.1_3'UTR	p.E414D	NM_003854.2	NP_003845.2	WXS	Illumina GAIIx	Phase_I	Q9HB29	ILRL2_HUMAN			10	1368	+			414			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1242G>C	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102729	0.56183	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.10005	2.92;2.92;2.92	6.07	5.2	0.72013	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.106321	0.64402	D	0.000007	T	0.38639	0.1048	M	0.91196	3.185	0.41327	D	0.987213	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44221	-0.9342	10	0.87932	D	0	.	9.3919	0.38378	0.2223:0.0:0.7777:0.0	.	296;414	A4FU63;Q9HB29	.;ILRL2_HUMAN	D	414;296;414	ENSP00000264257:E414D;ENSP00000413348:E296D;ENSP00000442184:E414D	ENSP00000264257:E414D	E	+	3	2	IL1RL2	102215961	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	2.498000	0.45363	1.587000	0.49959	-0.136000	0.14681	GAG		0.448	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		47	67	0	0	0	1	0	47	67				
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000546711.1_Missense_Mutation_p.P911T|FGD6_ENST00000549499.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2731-2733)Cca>Aca		FYVE, RhoGEF and PH domain containing 6							118.0	107.0	111.0					12																	95535270		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535270G>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2731C>A	12.37:g.95535270G>T	ENSP00000344446:p.Pro911Thr		Somatic				FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T	p.P911T	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			6	2954	-			911			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2731C>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709621	0.68730	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	3.79	0.43588	Dbl homology (DH) domain (5);	0.147341	0.31797	N	0.007055	T	0.77685	0.4167	M	0.76002	2.32	0.53688	D	0.999978	D	0.71674	0.998	D	0.67382	0.951	T	0.80663	-0.1282	10	0.87932	D	0	-4.419	15.9087	0.79450	0.0:0.2764:0.7236:0.0	.	911	Q6ZV73	FGD6_HUMAN	T	911	ENSP00000344446:P911T;ENSP00000450342:P911T;ENSP00000449005:P911T	ENSP00000344446:P911T	P	-	1	0	FGD6	94059401	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.328000	0.59253	0.686000	0.31488	0.563000	0.77884	CCA		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		28	40	1	0	3.65163e-15	1	4.42622e-15	28	40				
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846					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)					GCACACCTTTGCTCACCTCTA	0.463																																						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.(11536-11538)ttG>ttT		mucin 17, cell surface associated							128.0	114.0	119.0					7																	100686235		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686235G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11538G>T	7.37:g.100686235G>T	ENSP00000302716:p.Leu3846Phe		Somatic					p.L3846F	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	11602	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3846					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11538G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	9.834	1.189161	0.21954	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	1.55	-1.45	0.08828	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.58577	0.841	T	0.40997	-0.9533	9	0.26408	T	0.33	.	1.9845	0.03433	0.2308:0.0:0.464:0.3052	.	3846	Q685J3	MUC17_HUMAN	F	3846	ENSP00000302716:L3846F	ENSP00000302716:L3846F	L	+	3	2	MUC17	100472955	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-2.578000	0.00908	-0.020000	0.14032	0.187000	0.17357	TTG		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		45	97	1	0	6.4771e-29	1	8.35755e-29	45	97				
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A	rs587687865		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106110141G>A	ENST00000390545.2	-	0	476							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m 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)										CCTCCACGCCGTCCACGTACC	0.617													N|||	1	0.000199681	0.0	0.0014	5008	,	,		22764	0.0		0.0	False		,,,				2504	0.0					ENST00000390545.2																			0																				201.0	179.0	186.0					14																	106110141		2178	4269	6447			3501							g.chr14:106110141G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110141G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	476	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.617	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		46	45	0	0	0	1	0	46	45				
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(79-81)ctA>ctT		tRNA nucleotidyl transferase, CCA-adding, 1							115.0	102.0	107.0					3																	3170805		2203	4300	6503	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3170805A>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.81A>T	3.37:g.3170805A>T			Somatic				TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000339437.6_Silent_p.L27L	p.L27L	NM_182916.2	NP_886552.2	WXS	Illumina GAIIx	Phase_I	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	2	183	+			27					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.81A>T	CCDS2561.2																																																																																				0.488	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			40	114	0	0	0	1	0	40	114				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	29	0	0	0	1	0	6	29				
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:107592482G>C	ENST00000222399.6	-	23	3496	c.3266C>G	c.(3265-3267)gCt>gGt	p.A1089G	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1113G	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12. {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						GAAGGAATGAGCAGCATTGCA	0.567																																						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.(3337-3339)gCt>gGt		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						57.0	42.0	47.0					7																	107592482		2203	4300	6503	SO:0001583	missense	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.chr7:107592482G>C	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.3266C>G	7.37:g.107592482G>C	ENSP00000222399:p.Ala1089Gly		Somatic				LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G	p.A1113G			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			21	3522	-			1089			Laminin EGF-like 12.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3338C>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571707	0.13623	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.62105	0.05;0.05	4.93	0.837	0.18896	EGF-like, laminin (3);	.	.	.	.	T	0.51075	0.1653	L	0.50919	1.6	0.18873	N	0.999988	B;B	0.23650	0.04;0.089	B;B	0.26969	0.063;0.075	T	0.38200	-0.9672	9	0.23891	T	0.37	.	6.4453	0.21873	0.1399:0.0:0.3551:0.505	.	1089;1113	P07942;G3XAI2	LAMB1_HUMAN;.	G	1113;1089	ENSP00000377191:A1113G;ENSP00000222399:A1089G	ENSP00000222399:A1089G	A	-	2	0	LAMB1	107379718	0.000000	0.05858	0.002000	0.10522	0.437000	0.31866	0.727000	0.25999	0.036000	0.15547	-0.274000	0.10170	GCT		0.567	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		24	26	0	0	0	1	0	24	26				
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAAGCTGGAACGGCTGGATAT	0.483																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(838-840)Cgg>Agg		fibronectin leucine rich transmembrane protein 2							161.0	164.0	163.0					14																	86088696		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088696C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.838C>A	14.37:g.86088696C>A			Somatic				FLRT2_ENST00000554746.1_Silent_p.R280R	p.R280R	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1605	+			280					A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.838C>A	CCDS9877.1																																																																																				0.483	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			145	49	1	0	9.15414e-77	1	1.22055e-76	145	49				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	33	0	0	0	1	0	5	33				
HSPA12B	116835	broad.mit.edu	37	20	3726646	3726646	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:3726646G>T	ENST00000254963.2	+	7	788	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	HSPA12B_ENST00000542646.1_Missense_Mutation_p.A49S	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	215							ATP binding (GO:0005524)	p.A215S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GAAACAGCCAGCCAAGCAGTT	0.642																																						ENST00000254963.2																			1	Substitution - Missense(1)	p.A215S(1)	kidney(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(643-645)Gcc>Tcc		heat shock 70kD protein 12B							72.0	59.0	64.0					20																	3726646		2203	4300	6503	SO:0001583	missense	116835						ATP binding	g.chr20:3726646G>T	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.643G>T	20.37:g.3726646G>T	ENSP00000254963:p.Ala215Ser		Somatic				HSPA12B_ENST00000542646.1_Missense_Mutation_p.A49S	p.A215S	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	WXS	Illumina GAIIx	Phase_I	Q96MM6	HS12B_HUMAN			7	788	+			215					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.643G>T	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652694	0.96724	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.04360	3.64;3.64;3.64	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.966;0.995	T	0.00064	-1.2151	10	0.56958	D	0.05	-11.6847	16.444	0.83910	0.0:0.0:1.0:0.0	.	214;215	B7ZLP2;Q96MM6	.;HS12B_HUMAN	S	215;49;129	ENSP00000254963:A215S;ENSP00000441506:A49S;ENSP00000382608:A129S	ENSP00000254963:A215S	A	+	1	0	HSPA12B	3674646	1.000000	0.71417	0.960000	0.40013	0.977000	0.68977	9.124000	0.94394	2.755000	0.94549	0.655000	0.94253	GCC		0.642	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		5	127	1	0	8.12818e-05	1	9.03132e-05	5	127				
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	SYNJ2BP_ENST00000554216.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	28	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522																																						ENST00000256366.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(82-84)gtC>gtT		synaptojanin 2 binding protein							56.0	54.0	55.0					14																	70855304		2203	4300	6503	SO:0001819	synonymous_variant	55333							g.chr14:70855304G>A	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.84C>T	14.37:g.70855304G>A			Somatic				RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	p.V28V	NM_018373.2	NP_060843.2	WXS	Illumina GAIIx	Phase_I				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	2	165	-								Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	c.84C>T	CCDS9803.1																																																																																				0.522	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		4	19	0	0	0	1	0	4	19				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000426742.2_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000543101.1_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A			Somatic				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	WXS	Illumina GAIIx	Phase_I	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	18	0	0	0	1	0	3	18				
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T	rs371619496		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2191-2193)gGt>gAt		SPHK1 interactor, AKAP domain containing		C	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	166.0	151.0	156.0		2192,2192	4.7	0.0	2		156	0,8600		0,0,4300	no	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	94,94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	731/1701,731/1672	228883378	1,13005	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883378C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2192G>A	2.37:g.228883378C>T	ENSP00000375909:p.Gly731Asp		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	p.G731D	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2238	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	731					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2192G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	2.27E-4	0.0	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	5.61	4.73	0.59995	.	0.384553	0.31897	N	0.006889	T	0.16854	0.0405	M	0.61703	1.905	0.09310	N	1	P;B	0.49635	0.926;0.441	P;B	0.44597	0.454;0.185	T	0.13229	-1.0517	10	0.25751	T	0.34	.	10.4997	0.44798	0.0:0.8349:0.0:0.1651	.	731;731	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	731	ENSP00000375909:G731D;ENSP00000339886:G731D	ENSP00000339886:G731D	G	-	2	0	SPHKAP	228591622	0.001000	0.12720	0.004000	0.12327	0.072000	0.16883	1.500000	0.35682	1.506000	0.48736	0.655000	0.94253	GGT		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	187	0	0	0	1	0	7	187				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	23	0	0	0	1	0	5	23				
BRDT	676	broad.mit.edu	37	1	92430268	92430268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:92430268G>T	ENST00000362005.3	+	4	695	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000370389.2_Nonsense_Mutation_p.E20*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	93	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAGGCTTCAGAATGTATAGA	0.279																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(58-60)Gaa>Taa		bromodomain, testis-specific							35.0	38.0	37.0					1																	92430268		2189	4277	6466	SO:0001587	stop_gained	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430268G>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.277G>T	1.37:g.92430268G>T	ENSP00000354568:p.Glu93*		Somatic				BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93*	p.E20*	NM_001242810.1	NP_001229739.1	WXS	Illumina GAIIx	Phase_I	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	982	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	93					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	c.58G>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489616	0.84962	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	.	.	.	5.43	4.52	0.55395	.	0.074758	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.3072	13.9878	0.64345	0.074:0.0:0.926:0.0	.	.	.	.	X	93;20;93;93;93;93;93;93;93;93;93;20;93	.	ENSP00000354568:E93X	E	+	1	0	BRDT	92202856	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.362000	0.66098	1.316000	0.45131	0.650000	0.86243	GAA		0.279	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		3	37	1	0	1	1	1	3	37				
FAM35A	54537	broad.mit.edu	37	10	88946959	88946959	+	Splice_Site	SNP	T	T	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:88946959T>G	ENST00000298784.1	+	8	2422		c.e8+2		FAM35A_ENST00000298786.4_Splice_Site	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A											endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GAGTGATAGGTAATATATCAG	0.368																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.e9+2		family with sequence similarity 35, member A							85.0	73.0	77.0					10																	88946959		2203	4297	6500	SO:0001630	splice_region_variant	54537							g.chr10:88946959T>G	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2308+2T>G	10.37:g.88946959T>G			Somatic				FAM35A_ENST00000298784.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q86V20	FA35A_HUMAN			9	2629	+								O95885|Q9H991	Splice_Site	SNP	ENST00000298784.1	37		CCDS7383.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.582282	0.65992	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313;ENST00000342900	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8271	0.52273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM35A	88936939	1.000000	0.71417	0.717000	0.30585	0.640000	0.38277	4.875000	0.63072	1.447000	0.47661	0.163000	0.16589	.		0.368	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	Intron	4	52	0	0	0	1	0	4	52				
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3463-3465)ttG>ttT		autism susceptibility candidate 2							38.0	43.0	41.0					7																	70255667		2203	4299	6502	SO:0001583	missense	26053							g.chr7:70255667G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3465G>T	7.37:g.70255667G>T	ENSP00000344087:p.Leu1155Phe		Somatic				AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	p.L1155F	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3786	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1155			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3465G>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513129	0.64522	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.44482	0.97;0.92	4.62	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.53997	0.1831	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.51220	-0.8733	9	.	.	.	-16.9882	7.7553	0.28921	0.0817:0.0:0.7548:0.1636	.	607;1131;1155	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	1131;1155	ENSP00000385263:L1131F;ENSP00000344087:L1155F	.	L	+	3	2	AUTS2	69893603	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.310000	0.51911	1.144000	0.42321	0.655000	0.94253	TTG		0.692	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			17	76	1	0	2.48551e-13	1	2.92412e-13	17	76				
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T	rs565938595	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455T|SLC22A6_ENST00000421062.2_Splice_Site_p.A455T|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACAGTGACAGCGCTGGCGGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15785	0.0		0.0	False		,,,				2504	0.0					ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1495-1497)Gct>Act		solute carrier family 22 (organic anion transporter), member 6							75.0	71.0	72.0					11																	62744726		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744726C>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1495G>A	11.37:g.62744726C>T	ENSP00000367102:p.Ala499Thr		Somatic				SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T	p.A499T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	WXS	Illumina GAIIx	Phase_I	Q4U2R8	S22A6_HUMAN			9	1761	-			499					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1495G>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325294	0.10900	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.73258	-0.73;-0.73;0.09;0.09	4.48	1.62	0.23740	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.508642	0.22012	N	0.065853	T	0.64338	0.2589	M	0.73430	2.235	0.09310	N	1	B;B;B;B	0.21688	0.021;0.012;0.059;0.027	B;B;B;B	0.16289	0.014;0.009;0.015;0.009	T	0.52480	-0.8570	10	0.28530	T	0.3	.	7.7515	0.28901	0.0:0.7191:0.0:0.2809	.	455;455;499;499	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	T	499;478;499;455;455	ENSP00000353597:A499T;ENSP00000367102:A499T;ENSP00000396401:A455T;ENSP00000404441:A455T	ENSP00000353597:A499T	A	-	1	0	SLC22A6	62501302	0.000000	0.05858	0.029000	0.17559	0.168000	0.22595	-0.191000	0.09601	0.163000	0.19507	-0.258000	0.10820	GCT		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		51	69	0	0	0	1	0	51	69				
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000391982.2_Silent_p.G349G	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1045-1047)ggC>ggA		calpain 10							52.0	58.0	56.0					2																	241534490		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534490C>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1047C>A	2.37:g.241534490C>A			Somatic				CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	p.G349G	NM_023083.3	NP_075571.1	WXS	Illumina GAIIx	Phase_I	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	7	1243	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	349			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1047C>A	CCDS42838.1																																																																																				0.632	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		42	40	1	0	7.63091e-17	1	9.53864e-17	42	40				
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1015-1017)caC>caA		zinc finger protein 12							63.0	68.0	66.0					7																	6731556		2196	4299	6495	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731556G>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1017C>A	7.37:g.6731556G>T	ENSP00000385939:p.His339Gln		Somatic				ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|AC073343.13_ENST00000366167.2_RNA	p.H339Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	WXS	Illumina GAIIx	Phase_I	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1558	-		Ovarian(82;0.0776)	339					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1017C>A	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622278	0.28889	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.28454	1.61;1.61;1.61	4.03	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000352	T	0.29288	0.0729	N	0.16478	0.41	0.30000	N	0.816085	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	T	0.18335	-1.0340	10	0.09338	T	0.73	.	8.2228	0.31552	0.2733:0.0:0.7267:0.0	.	339;301	P17014;P17014-5	ZNF12_HUMAN;.	Q	265;339;301;397;303	ENSP00000384405:H265Q;ENSP00000385939:H339Q;ENSP00000344745:H301Q	ENSP00000331039:H303Q	H	-	3	2	ZNF12	6698081	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.025000	0.13577	0.273000	0.22049	0.563000	0.77884	CAC		0.443	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		27	85	1	0	0.00127121	1	0.00137428	27	85				
PFKP	5214	broad.mit.edu	37	10	3172134	3172134	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:3172134G>A	ENST00000381125.4	+	17	1883	c.1807G>A	c.(1807-1809)Gca>Aca	p.A603T	PFKP_ENST00000381072.1_Missense_Mutation_p.A21T|PFKP_ENST00000381075.2_Missense_Mutation_p.A595T	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	603	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGCTGATGCCGCATACATTTT	0.647																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1783-1785)Gca>Aca		phosphofructokinase, platelet							46.0	43.0	44.0					10																	3172134		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3172134G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1807G>A	10.37:g.3172134G>A	ENSP00000370517:p.Ala603Thr		Somatic				PFKP_ENST00000381125.4_Missense_Mutation_p.A603T|PFKP_ENST00000381072.1_Missense_Mutation_p.A21T	p.A595T	NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	19	2007	+			603					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1783G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	17.71	3.457754	0.63401	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80566	-1.39;-1.39;-1.39	4.33	4.33	0.51752	Phosphofructokinase domain (2);	0.057901	0.64402	D	0.000002	D	0.88695	0.6506	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.979;0.943	D	0.90535	0.4498	10	0.87932	D	0	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	595;595;603	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	T	603;592;595;21	ENSP00000370517:A603T;ENSP00000370465:A595T;ENSP00000370462:A21T	ENSP00000370462:A21T	A	+	1	0	PFKP	3162134	1.000000	0.71417	0.312000	0.25196	0.001000	0.01503	9.605000	0.98321	1.958000	0.56883	0.462000	0.41574	GCA		0.647	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		4	95	0	0	0	1	0	4	95				
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(730-732)agC>agA		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							57.0	53.0	54.0					11																	45671742		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671742G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.732C>A	11.37:g.45671742G>T	ENSP00000309270:p.Ser244Arg		Somatic					p.S244R	NM_003654.5	NP_003645.1	WXS	Illumina GAIIx	Phase_I	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1402	-			244					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.732C>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410234	0.42715	.	.	ENSG00000175264	ENST00000308064	D	0.82619	-1.63	4.98	2.06	0.26882	Sulfotransferase domain (1);	0.147583	0.64402	D	0.000011	T	0.71787	0.3381	N	0.19112	0.55	0.40176	D	0.977238	P	0.47910	0.902	P	0.47402	0.546	T	0.63941	-0.6523	10	0.15952	T	0.53	-8.5739	8.7652	0.34698	0.4721:0.0:0.5279:0.0	.	244	O43916	CHST1_HUMAN	R	244	ENSP00000309270:S244R	ENSP00000309270:S244R	S	-	3	2	CHST1	45628318	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.708000	0.25719	0.147000	0.19030	0.462000	0.41574	AGC		0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		7	124	1	0	0.00198382	1	0.00208823	7	124				
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(883-885)Tgc>Ggc		secreted frizzled-related protein 2							76.0	69.0	71.0					4																	154702608		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702608A>C	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.883T>G	4.37:g.154702608A>C	ENSP00000274063:p.Cys295Gly		Somatic					p.C295G	NM_003013.2	NP_003004.1	WXS	Illumina GAIIx	Phase_I	Q96HF1	SFRP2_HUMAN			3	1167	-	all_hematologic(180;0.093)	Renal(120;0.117)	295			NTR.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.883T>G	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754815	0.69648	.	.	ENSG00000145423	ENST00000274063	D	0.84146	-1.81	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92900	0.6338	10	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	295	Q96HF1	SFRP2_HUMAN	G	295	ENSP00000274063:C295G	ENSP00000274063:C295G	C	-	1	0	SFRP2	154922058	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.513000	0.90542	2.268000	0.75426	0.533000	0.62120	TGC		0.617	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			29	46	0	0	0	1	0	29	46				
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	lincRNA	SNP	A	A	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:1593386A>C	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTGGCCATTCACGTGCCTCAG	0.597																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593386A>C																													5.37:g.1593386A>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	239	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.597	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	70	0	0	0	1	0	4	70				
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G	rs587768266		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)cggfs	p.R417fs	PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.R417fs|PRAMEF6_ENST00000376192.5_Intron	NM_001282323.1	NP_001269252.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417					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)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.52																																						ENST00000376182.1																			0				NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9						c.(1249-1251)ggafs		PRAME family member 6																																				SO:0001589	frameshift_variant	440561							g.chr1:13109019_13109020insG		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376182.1:c.1250dupC	1.37:g.13109025_13109025dupG	ENSP00000365353:p.Arg417fs		Somatic				PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs|PRAMEF6_ENST00000376192.5_Intron	p.G417fs			WXS	Illumina GAIIx	Phase_I	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1348_1349	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	417					A0AUJ9	Frame_Shift_Ins	INS	ENST00000376182.1	37	c.1249_1250insC																																																																																					0.520	PRAMEF6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001010889		8	236						8	236	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	310						7	310	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		11	470						11	470	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|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			10	120						10	120	---	---	---	---
SFPQ	6421	broad.mit.edu	37	1	35653663	35653664	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:35653663_35653664insCT	ENST00000357214.5	-	7	1823_1824	c.1725_1726insAG	c.(1723-1728)gaggaafs	p.E576fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	576					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATCATCTCTTCCTCTCTTCTAC	0.441			T	TFE3	papillary renal cell																																	ENST00000357214.5				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1723-1728)gaaagafs		splicing factor proline/glutamine-rich																																				SO:0001589	frameshift_variant	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35653663_35653664insCT	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1724_1725dupAG	1.37:g.35653668_35653669dupCT	ENSP00000349748:p.Glu576fs		Somatic					p.R576fs	NM_005066.2	NP_005057.1	WXS	Illumina GAIIx	Phase_I	P23246	SFPQ_HUMAN			7	1823_1824	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	576					P30808|Q5SZ71	Frame_Shift_Ins	INS	ENST00000357214.5	37	c.1725_1726insAG	CCDS388.1																																																																																				0.441	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		7	439						7	439	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs		Somatic				CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR	p.R469fs	NM_156039.3	NP_724781.1	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		7	239						7	239	---	---	---	---
BMP8A	353500	broad.mit.edu	37	1	39988691	39988692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:39988691_39988692insC	ENST00000331593.5	+	6	1307_1308	c.961_962insC	c.(961-963)gccfs	p.A321fs	RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGGTCATCGCCCCCCAAGGC	0.644																																						ENST00000331593.5																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(961-963)cccfs		bone morphogenetic protein 8a																																				SO:0001589	frameshift_variant	353500				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:39988691_39988692insC	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.967dupC	1.37:g.39988697_39988697dupC	ENSP00000327440:p.Ala321fs		Somatic				RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA	p.P321fs	NM_181809.3	NP_861525.2	WXS	Illumina GAIIx	Phase_I	Q7Z5Y6	BMP8A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		6	1307_1308	+	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	321					Q5T3A5	Frame_Shift_Ins	INS	ENST00000331593.5	37	c.961_962insC	CCDS437.1																																																																																				0.644	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		7	358						7	358	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		20	389						20	389	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs		Somatic				FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	p.VG137fs	NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		21	316						21	316	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		20	467						20	467	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145561840	145561841	+	Frame_Shift_Ins	INS	-	-	G	rs201815402		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:145561840_145561841insG	ENST00000355594.4	+	10	1615_1616	c.1528_1529insG	c.(1528-1530)cggfs	p.R510fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	510								p.R510R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGCTGCCCGGGGGGCTTTG	0.629																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			1	Substitution - coding silent(1)	p.R510R(1)	lung(1)	NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1528-1530)gggfs		ankyrin repeat domain 35				1,4255		0,1,2127						-0.6	0.9			99	2,8244		0,2,4121	no	frameshift	ANKRD35	NM_144698.3		0,3,6248	A1A1,A1R,RR		0.0243,0.0235,0.024				3,12499				SO:0001589	frameshift_variant	148741							g.chr1:145561840_145561841insG	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1534dupG	1.37:g.145561846_145561846dupG	ENSP00000347802:p.Arg510fs		Somatic					p.G510fs	NM_144698.3	NP_653299.3	WXS	Illumina GAIIx	Phase_I	Q8N283	ANR35_HUMAN			10	1615_1616	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		510					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Frame_Shift_Ins	INS	ENST00000355594.4	37	c.1528_1529insG	CCDS919.1																																																																																				0.629	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		7	275						7	275	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		8	105						8	105	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)gtafs	p.V639fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.V623fs	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		7	550						7	550	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	318						7	318	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		9	402						9	402	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|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_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs	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		9	329						9	329	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_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_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_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		8	186						8	186	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		16	293						16	293	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	7	83						7	83	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-411)agccccfs	p.SP136fs	PROX1_ENST00000435016.1_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.SP136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.53																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(406-408)accfs		prospero homeobox 1																																				SO:0001589	frameshift_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170285_214170286insC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.413dupC	1.37:g.214170291_214170291dupC	ENSP00000355925:p.Ser136fs		Somatic				PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs	p.T136fs	NM_001270616.1	NP_001257545.1	WXS	Illumina GAIIx	Phase_I	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1015_1016	+			136					A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Ins	INS	ENST00000366958.4	37	c.407_408insC	CCDS31021.1																																																																																				0.530	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		7	231						7	231	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	184						7	184	---	---	---	---
AC010880.1	0	broad.mit.edu	37	2	16576444	16576445	+	lincRNA	DEL	AC	AC	-	rs111163341|rs147056281|rs570850981|rs534134392	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:16576444_16576445delAC	ENST00000427950.1	+	0	157																											cacaccatagacacacacacac	0.5																																						ENST00000427950.1																			0																																																			0							g.chr2:16576444_16576445delAC																													2.37:g.16576454_16576455delAC			Somatic								WXS	Illumina GAIIx	Phase_I					0	157	+									RNA	DEL	ENST00000427950.1	37																																																																																						0.500	AC010880.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323750.1			3	5						3	5	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-66)gtggggfs	p.VG21fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.VG21fs	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(61-63)gggfs		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3																																				SO:0001589	frameshift_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112337_18112338insG	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.68dupG	2.37:g.18112343_18112343dupG	ENSP00000385968:p.Val21fs		Somatic				KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron	p.G21fs			WXS	Illumina GAIIx	Phase_I	Q9BQ31	KCNS3_HUMAN			3	513_514	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		21					D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Ins	INS	ENST00000403915.1	37	c.62_63insG	CCDS1692.1																																																																																				0.535	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		8	526						8	526	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-588)gaccccfs	p.DP195fs	NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.DP195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.DP195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(583-585)gccfs		nuclear receptor binding protein 1																																				SO:0001589	frameshift_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27658017_27658018insC	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.591dupC	2.37:g.27658024_27658024dupC	ENSP00000233557:p.Asp195fs		Somatic				NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs	p.A195fs			WXS	Illumina GAIIx	Phase_I	Q9UHY1	NRBP_HUMAN			8	1416_1417	+	Acute lymphoblastic leukemia(172;0.155)		195			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Ins	INS	ENST00000233557.3	37	c.584_585insC	CCDS1753.1																																																																																				0.589	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		14	384						14	384	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:40366704_40366705insG	ENST00000403092.1	-	10	2414_2415	c.2381_2382insC	c.(2380-2382)cctfs	p.P794fs	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599268.1_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-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.P794fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000542024.1_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_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000444629.1_RNA|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		8	536						8	536	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1798-1800)cccfs	p.P600fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	600					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1795-1800)tcccccfs		poly(A) polymerase gamma																																				SO:0001589	frameshift_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61021134_61021135insC	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1803dupC	2.37:g.61021140_61021140dupC	ENSP00000238714:p.Pro600fs		Somatic					p.SP599fs	NM_022894.3	NP_075045.2	WXS	Illumina GAIIx	Phase_I	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		19	2046_2047	+	all_hematologic(2;0.0797)		599					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Ins	INS	ENST00000238714.3	37	c.1797_1798insC	CCDS1863.1																																																																																				0.401	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		9	367						9	367	---	---	---	---
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:68691369_68691370insC	ENST00000377957.3	-	4	846_847	c.439_440insG	c.(439-441)gaafs	p.E147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386																																						ENST00000377957.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(439-441)aatfs		F-box protein 48																																				SO:0001589	frameshift_variant	554251							g.chr2:68691369_68691370insC	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.440dupG	2.37:g.68691375_68691375dupC	ENSP00000367193:p.Glu147fs		Somatic					p.N147fs	NM_001024680.1	NP_001019851.1	WXS	Illumina GAIIx	Phase_I	Q5FWF7	FBX48_HUMAN			4	846_847	-			147						Frame_Shift_Ins	INS	ENST00000377957.3	37	c.439_440insG	CCDS33213.1																																																																																				0.386	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		7	560						7	560	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73303155	73303156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:73303155_73303156insG	ENST00000258098.6	-	4	1963_1964	c.1723_1724insC	c.(1723-1725)cagfs	p.Q575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGGCCAGCCTGGGGGGCCTGG	0.599																																						ENST00000258098.6																			1	Deletion - Frameshift(1)	p.Q575fs*11(1)	lung(1)	biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1723-1725)ggcfs		RAB11 family interacting protein 5 (class I)																																				SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303155_73303156insG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1724dupC	2.37:g.73303161_73303161dupG	ENSP00000258098:p.Gln575fs		Somatic				RAB11FIP5_ENST00000493523.2_5'UTR	p.G575fs	NM_015470.2	NP_056285.1	WXS	Illumina GAIIx	Phase_I	Q9BXF6	RFIP5_HUMAN			4	1963_1964	-			575					O94939|Q9P0M1	Frame_Shift_Ins	INS	ENST00000258098.6	37	c.1723_1724insC	CCDS1923.1																																																																																				0.599	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		10	1292						10	1292	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|RP11-287D1.3_ENST00000451608.2_5'Flank	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_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|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	1069						9	1069	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1005)ctggggfs	p.LG334fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.LG231fs	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_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|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_ENST00000459775.1_3'UTR	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		9	884						9	884	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)gccfs	p.A398fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.A398fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.A398fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.A398fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.A295fs	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_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|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_ENST00000459775.1_3'UTR	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		11	603						11	603	---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425822	88425823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:88425822_88425823insC	ENST00000295834.3	-	2	210_211	c.112_113insG	c.(112-114)gtgfs	p.V38fs	FABP1_ENST00000393750.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	38					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATTTCCGACACCCCCTTGATA	0.53																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(112-114)gtcfs		fatty acid binding protein 1, liver																																				SO:0001589	frameshift_variant	2168				organ morphogenesis			g.chr2:88425822_88425823insC	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.113dupG	2.37:g.88425827_88425827dupC	ENSP00000295834:p.Val38fs		Somatic				FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR	p.V38fs			WXS	Illumina GAIIx	Phase_I	P07148	FABPL_HUMAN			2	143_144	-			38						Frame_Shift_Ins	INS	ENST00000295834.3	37	c.112_113insG	CCDS2001.1																																																																																				0.530	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		7	1918						7	1918	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:89083951delA	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		CTTTTTTTTCAGTGTATTTCT	0.348																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083951delA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083951delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	576	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.348	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			4	9						4	9	---	---	---	---
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458648	90458648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:90458648delT	ENST00000603238.1	+	2	324	c.324delT	c.(322-324)tgtfs	p.C108fs																								CTTATTACTGTCAACAGAGTG	0.512																																						ENST00000603238.1																			0											c.(322-324)tgfs																																						SO:0001589	frameshift_variant	339562							g.chr2:90458648delT																												ENST00000603238.1:c.324delT	2.37:g.90458648delT	ENSP00000474044:p.Cys108fs		Somatic					p.108fs			WXS	Illumina GAIIx	Phase_I					2	324	+									Frame_Shift_Del	DEL	ENST00000603238.1	37	c.324delT																																																																																					0.512	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			8	1194						8	1194	---	---	---	---
ANKRD23	200539	broad.mit.edu	37	2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)cccaggfs	p.R93fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.R93fs|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.R93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.53																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(274-279)ccggaafs		ankyrin repeat domain 23				3,4263		0,3,2130						4.5	1.0			89	6,8248		0,6,4121	no	frameshift	ANKRD23	NM_144994.7		0,9,6251	A1A1,A1R,RR		0.0727,0.0703,0.0719				9,12511				SO:0001589	frameshift_variant	200539					nucleus		g.chr2:97507820_97507821insG		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.277dupC	2.37:g.97507827_97507827dupG	ENSP00000321679:p.Arg93fs		Somatic				ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs	p.E93fs	NM_144994.7	NP_659431.5	WXS	Illumina GAIIx	Phase_I	Q86SG2	ANR23_HUMAN			3	317_318	-			93					Q711K7|Q8NAJ7	Frame_Shift_Ins	INS	ENST00000318357.4	37	c.276_277insC	CCDS2027.1																																																																																				0.530	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		12	192						12	192	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)gttdel	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.36																																						ENST00000302450.6																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(193-195)del		cytoskeleton associated protein 2-like																																				SO:0001651	inframe_deletion	150468					centrosome		g.chr2:113514753_113514755delAAC	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.193_195delGTT	2.37:g.113514756_113514758delAAC	ENSP00000305204:p.Val65del		Somatic				CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	p.V65del	NM_152515.3	NP_689728.3	WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			4	271_273	-			65					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	In_Frame_Del	DEL	ENST00000302450.6	37	c.193_195delGTT	CCDS2100.1																																																																																				0.360	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		72	217						72	217	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)gcafs	p.A267fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609																																						ENST00000333129.3																			2	Insertion - Frameshift(2)	p.A267fs*100(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(799-801)accfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467542_164467543insC	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.800dupG	2.37:g.164467549_164467549dupC	ENSP00000333836:p.Ala267fs		Somatic				FIGN_ENST00000409634.1_Intron	p.T267fs	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	1113_1114	-			267			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.799_800insG	CCDS2221.2																																																																																				0.609	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		10	183						10	183	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|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_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_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		14	336						14	336	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs		Somatic				CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	WXS	Illumina GAIIx	Phase_I	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		13	310						13	310	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		15	662						15	662	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:197171262_197171263insG	ENST00000260983.3	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cccgtgfs	p.V922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.V566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.53																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2761-2766)cctgaafs		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197171262_197171263insG	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2764dupC	2.37:g.197171268_197171268dupG	ENSP00000260983:p.Val922fs		Somatic				HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	p.E922fs	NM_020760.1	NP_065811.1	WXS	Illumina GAIIx	Phase_I	Q9P2P5	HECW2_HUMAN			13	2945_2946	-			922			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Frame_Shift_Ins	INS	ENST00000260983.3	37	c.2763_2764insC	CCDS33354.1																																																																																				0.530	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		8	433						8	433	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197990602	197990603	+	Frame_Shift_Ins	INS	-	-	C	rs568552922		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:197990602_197990603insC	ENST00000328737.2	-	5	421_422	c.345_346insG	c.(343-348)gggcgcfs	p.R116fs	ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.R69fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.R133fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.R141fs|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.R116fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.R116fs|ANKRD44_ENST00000409919.1_Frame_Shift_Ins_p.R141fs			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_ENST00000282272.8_Frame_Shift_Ins_p.H133fs|ANKRD44_ENST00000409919.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.H69fs	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		7	462						7	462	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374415.3_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		8	164						8	164	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		11	157						11	157	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	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_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	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		13	368						13	368	---	---	---	---
TADA3	10474	broad.mit.edu	37	3	9831566	9831567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:9831566_9831567insG	ENST00000301964.2	-	3	846_847	c.288_289insC	c.(286-291)cccaaafs	p.K97fs	ARPC4_ENST00000498623.2_5'Flank|ARPC4_ENST00000287613.7_5'Flank|TADA3_ENST00000343450.2_Frame_Shift_Ins_p.K97fs|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Frame_Shift_Ins_p.K97fs|ARPC4_ENST00000397261.3_5'Flank	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	97					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TTCCCATGTTTGGGGGGAGCTC	0.54																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(286-291)ccaacafs		transcriptional adaptor 3																																				SO:0001589	frameshift_variant	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831566_9831567insG	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.289dupC	3.37:g.9831572_9831572dupG	ENSP00000307684:p.Lys97fs		Somatic				TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000301964.2_Frame_Shift_Ins_p.T97fs|TADA3_ENST00000440161.1_Frame_Shift_Ins_p.T97fs	p.T97fs	NM_133480.1	NP_597814.1	WXS	Illumina GAIIx	Phase_I	O75528	TADA3_HUMAN			3	835_836	-			97					Q6FI83|Q9UFS2	Frame_Shift_Ins	INS	ENST00000301964.2	37	c.288_289insC	CCDS2583.1																																																																																				0.540	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			9	312						9	312	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000287647.3_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000383807.1_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA			Somatic				FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	15	98						15	98	---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11059620	11059621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:11059620_11059621insG	ENST00000287766.4	+	4	751_752	c.330_331insG	c.(331-333)gggfs	p.G111fs	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	111					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	ACACCTCCATCGGGGGGCTAGG	0.599																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(328-333)atggggfs		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)																																			SO:0001589	frameshift_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059620_11059621insG		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.336dupG	3.37:g.11059626_11059626dupG	ENSP00000287766:p.Gly111fs		Somatic				SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	p.MG110fs	NM_003042.3	NP_003033.3	WXS	Illumina GAIIx	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	4	751_752	+		Ovarian(110;0.0392)	110					Q8N4K8	Frame_Shift_Ins	INS	ENST00000287766.4	37	c.330_331insG	CCDS2603.1																																																																																				0.599	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		9	490						9	490	---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11072861	11072862	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:11072861_11072862insG	ENST00000287766.4	+	13	1744		c.e13-1		SLC6A1_ENST00000536032.1_Splice_Site	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTCATCTTGCAGGGGGGTATTT	0.5																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.e13-1		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)																																			SO:0001630	splice_region_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11072861_11072862insG		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1324-1->G	3.37:g.11072867_11072867dupG			Somatic				SLC6A1_ENST00000536032.1_Splice_Site		NM_003042.3	NP_003033.3	WXS	Illumina GAIIx	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	13	1744	+		Ovarian(110;0.0392)						Q8N4K8	Splice_Site	INS	ENST00000287766.4	37		CCDS2603.1																																																																																				0.500	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	Intron	8	768						8	768	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C	rs374442833		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1432-1434)cccfs	p.P478fs	VILL_ENST00000465644.1_Frame_Shift_Ins_p.P196fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.P478fs			O15195	VILL_HUMAN	villin-like	478					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594																																						ENST00000283713.6																			1	Insertion - Frameshift(1)	p.H480fs*38(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1429-1434)gaccccfs		villin-like				6,4260		0,6,2127						5.0	1.0			127	3,8251		0,3,4124	no	frameshift	VILL	NM_015873.3		0,9,6251	A1A1,A1R,RR		0.0363,0.1406,0.0719				9,12511				SO:0001589	frameshift_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043303_38043304insC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1438dupC	3.37:g.38043310_38043310dupC	ENSP00000283713:p.Pro478fs		Somatic				VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs	p.DP477fs			WXS	Illumina GAIIx	Phase_I	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1697_1698	+			477					A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	ENST00000283713.6	37	c.1431_1432insC	CCDS2670.2																																																																																				0.594	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		15	291						15	291	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G	rs546326030	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_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	8	182						8	182	---	---	---	---
SLC38A3	10991	broad.mit.edu	37	3	50255143	50255144	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:50255143_50255144insC	ENST00000420502.1	+	0	879_880									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CCTGCCCACTGCCCCCCAACTT	0.584																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)																																					10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255143_50255144insC	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255149_50255149dupC			Somatic								WXS	Illumina GAIIx	Phase_I	Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	879_880	+									RNA	INS	ENST00000420502.1	37																																																																																						0.584	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		7	142						7	142	---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cctfs	p.P348fs	SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.53																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1042-1044)cccfs		Scm-like with four mbt domains 1																																				SO:0001589	frameshift_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52962211_52962212insG	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1044dupC	3.37:g.52962217_52962217dupG	ENSP00000378235:p.Pro348fs		Somatic				SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs	p.P348fs	NM_016329.3	NP_057413.2	WXS	Illumina GAIIx	Phase_I	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	9	1425_1426	-			348					Q402F7|Q96C73|Q9Y4Q9	Frame_Shift_Ins	INS	ENST00000394752.3	37	c.1043_1044insC	CCDS2867.1																																																																																				0.530	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		7	583						7	583	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G	rs377107086		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1294-1296)gggfs	p.G432fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.G432fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGTTCCTCAACGGGGGGGACCT	0.604																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1291-1296)aaggggfs		protein kinase C, delta																																				SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220652_53220653insG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1300dupG	3.37:g.53220659_53220659dupG	ENSP00000378217:p.Gly432fs		Somatic				PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	p.KG431fs	NM_212539.1	NP_997704.1	WXS	Illumina GAIIx	Phase_I	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1621_1622	+		Ovarian(412;0.0728)	431			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Ins	INS	ENST00000394729.2	37	c.1293_1294insG	CCDS2870.1																																																																																				0.604	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	915						8	915	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	775						11	775	---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100073614	100073615	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:100073614_100073615insG	ENST00000394140.4	+	9	774		c.e9-1			NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2						asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CATCTTTTTCAGGGGGGAGGTT	0.45																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.e9-1		nitrilase family, member 2																																				SO:0001630	splice_region_variant	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100073614_100073615insG	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.684-1->G	3.37:g.100073620_100073620dupG			Somatic						NM_020202.4	NP_064587.1	WXS	Illumina GAIIx	Phase_I	Q9NQR4	NIT2_HUMAN			9	774	+								B2R9A3|D3DN47|Q8WUF0	Splice_Site	INS	ENST00000394140.4	37		CCDS33806.1																																																																																				0.450	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	Intron	10	475						10	475	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del		Somatic				LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	WXS	Illumina GAIIx	Phase_I	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			7	2063						7	2063	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {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)		CAGCCCTGAGGCCCCCCCGCCC	0.604																																						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.(1150-1152)cccfs		protein disulfide isomerase family A, member 5				3,4263		0,3,2130						2.4	1.0			51	1,8251		0,1,4125	no	frameshift	PDIA5	NM_006810.3		0,4,6255	A1A1,A1R,RR		0.0121,0.0703,0.032				4,12514				SO:0001589	frameshift_variant	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.chr3:122869088_122869089insC	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.1157dupC	3.37:g.122869095_122869095dupC	ENSP00000323313:p.Ala384fs		Somatic				PDIA5_ENST00000467157.1_3'UTR	p.P384fs	NM_006810.3	NP_006801.1	WXS	Illumina GAIIx	Phase_I	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1245_1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Ins	INS	ENST00000316218.7	37	c.1150_1151insC	CCDS3020.1																																																																																				0.604	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		11	345						11	345	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs		Somatic				TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	WXS	Illumina GAIIx	Phase_I	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		8	246						8	246	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		16	1097						16	1097	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877785	150877786	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:150877785_150877786insC	ENST00000474524.1	+	7	1042_1043	c.1004_1005insC	c.(1003-1008)ggccccfs	p.GP335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.GP335fs|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.GP335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						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)			CCCAGCCCTGGCCCCCCCGGCC	0.584																																						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.(1003-1005)gccfs		mediator complex subunit 12-like																																				SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877785_150877786insC	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.1011dupC	3.37:g.150877792_150877792dupC	ENSP00000417235:p.Gly335fs		Somatic				MED12L_ENST00000422248.2_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000273432.4_Intron	p.A335fs	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)		7	1042_1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Ins	INS	ENST00000474524.1	37	c.1004_1005insC	CCDS33876.1																																																																																				0.584	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	145						7	145	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	464						9	464	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	836						7	836	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)accfs	p.T305fs	HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.T320fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.T331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.T290fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.T305fs|HTR3E-AS1_ENST00000431427.1_RNA	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_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	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		9	681						9	681	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs		Somatic				FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		9	672						9	672	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)gccfs	p.A464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1390-1392)catfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005320_25005321insC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1391dupG	4.37:g.25005326_25005326dupC	ENSP00000371548:p.Ala464fs		Somatic					p.H464fs	NM_018176.3	NP_060646.2	WXS	Illumina GAIIx	Phase_I	Q8N0V4	LGI2_HUMAN			8	1575_1576	-		Breast(46;0.173)	464					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1390_1391insG	CCDS3431.1																																																																																				0.515	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			7	479						7	479	---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C	rs551838879		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:27019446_27019447insC	ENST00000467011.1	+	11	2028_2029	c.1603_1604insC	c.(1603-1605)gccfs	p.A535fs	STIM2_ENST00000412829.2_Frame_Shift_Ins_p.A622fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.A543fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.A622fs|STIM2_ENST00000382009.3_Frame_Shift_Ins_p.A630fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.A535fs	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535	His/Pro-rich.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1888-1890)cccfs		stromal interaction molecule 2																																				SO:0001589	frameshift_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019446_27019447insC	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1609dupC	4.37:g.27019452_27019452dupC	ENSP00000419383:p.Ala535fs		Somatic				STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs	p.P630fs	NM_001169118.1	NP_001162589.1	WXS	Illumina GAIIx	Phase_I	Q9P246	STIM2_HUMAN			12	2155_2156	+		Breast(46;0.0503)	535					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Frame_Shift_Ins	INS	ENST00000467011.1	37	c.1888_1889insC	CCDS54752.1																																																																																				0.619	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		9	596						9	596	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			7	311						7	311	---	---	---	---
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.K167fs|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGATGTCCTTGGGGGGCGTCA	0.505																																						ENST00000295666.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(496-501)ccaggafs		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57907076_57907077insG	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.499dupC	4.37:g.57907082_57907082dupG	ENSP00000295666:p.Lys167fs		Somatic				IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs	p.G167fs	NM_001553.2	NP_001544.1	WXS	Illumina GAIIx	Phase_I	Q16270	IBP7_HUMAN			2	531_532	-	Glioma(25;0.08)|all_neural(26;0.181)		167			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Frame_Shift_Ins	INS	ENST00000295666.4	37	c.498_499insC	CCDS3512.1																																																																																				0.505	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			8	309						8	309	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264895.6_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			8	222						8	222	---	---	---	---
AGPAT9	84803	broad.mit.edu	37	4	84519314	84519315	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:84519314_84519315insC	ENST00000395226.2	+	11	1325_1326	c.1107_1108insC	c.(1108-1110)cccfs	p.P370fs	AGPAT9_ENST00000264409.4_Frame_Shift_Ins_p.P370fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	370					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TGTGGTACATGCCCCCCATGAC	0.475																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(1105-1110)atccccfs		1-acylglycerol-3-phosphate O-acyltransferase 9																																				SO:0001589	frameshift_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84519314_84519315insC	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1113dupC	4.37:g.84519320_84519320dupC	ENSP00000378651:p.Pro370fs		Somatic				AGPAT9_ENST00000264409.4_Frame_Shift_Ins_p.IP369fs	p.IP369fs	NM_001256421.1	NP_001243350.1	WXS	Illumina GAIIx	Phase_I	Q53EU6	GPAT3_HUMAN			11	1325_1326	+		Hepatocellular(203;0.114)	369					Q68CJ4|Q6GPI6|Q96NA3	Frame_Shift_Ins	INS	ENST00000395226.2	37	c.1107_1108insC	CCDS3606.1																																																																																				0.475	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		7	273						7	273	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs		Somatic					p.R138fs	NM_014485.2	NP_055300.1	WXS	Illumina GAIIx	Phase_I	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		7	804						7	804	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		28	677						28	677	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110920983	110920984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:110920983_110920984insG	ENST00000265171.5	+	21	3599_3600	c.3154_3155insG	c.(3154-3156)tggfs	p.W1052fs	EGF_ENST00000503392.1_Frame_Shift_Ins_p.W1011fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.W1010fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1052					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCTGAGCCTGTGGGGGGCCCAC	0.584																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3154-3156)gggfs		epidermal growth factor	Sulindac(DB00605)																																			SO:0001589	frameshift_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110920983_110920984insG	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3160dupG	4.37:g.110920989_110920989dupG	ENSP00000265171:p.Trp1052fs		Somatic				EGF_ENST00000509793.1_Frame_Shift_Ins_p.G1010fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.G1011fs	p.G1052fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	WXS	Illumina GAIIx	Phase_I	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	21	3599_3600	+		Hepatocellular(203;0.0893)	1052					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Frame_Shift_Ins	INS	ENST00000265171.5	37	c.3154_3155insG	CCDS3689.1																																																																																				0.584	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			9	650						9	650	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.R3421fs	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_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_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		7	123						7	123	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145629422	145629423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:145629422_145629423insC	ENST00000296575.3	+	7	1915_1916	c.1260_1261insC	c.(1261-1263)cccfs	p.P421fs		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	421					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCACCAACCAGCCCCCCGAAGT	0.545																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1258-1263)caccccfs		hedgehog interacting protein																																				SO:0001589	frameshift_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145629422_145629423insC	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1266dupC	4.37:g.145629428_145629428dupC	ENSP00000296575:p.Pro421fs		Somatic					p.HP420fs	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	7	1915_1916	+	all_hematologic(180;0.151)		420					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Frame_Shift_Ins	INS	ENST00000296575.3	37	c.1260_1261insC	CCDS3762.1																																																																																				0.545	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			7	195						7	195	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs		Somatic					p.G11fs	NM_003265.2	NP_003256.1	WXS	Illumina GAIIx	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			18	343						18	343	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9044549	9044550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:9044549_9044550insG	ENST00000382496.5	-	22	3705_3706	c.3040_3041insC	c.(3040-3042)cttfs	p.L1014fs	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1014					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGGTATTAAGGGGGGCAGGT	0.525																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(3040-3042)taafs		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A																																				SO:0001589	frameshift_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044549_9044550insG	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3041dupC	5.37:g.9044555_9044555dupG	ENSP00000371936:p.Leu1014fs		Somatic				CTD-2215L10.1_ENST00000506519.1_RNA	p.*1014fs	NM_003966.2	NP_003957.2	WXS	Illumina GAIIx	Phase_I	Q13591	SEM5A_HUMAN			22	3705_3706	-			1014					D3DTC6|O60408|Q1RLL9	Frame_Shift_Ins	INS	ENST00000382496.5	37	c.3040_3041insC	CCDS3875.1																																																																																				0.525	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			8	563						8	563	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)cctfs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.53									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9946-9948)ccafs		dynein, axonemal, heavy chain 5																																				SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766238_13766239insG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9948dupC	5.37:g.13766244_13766244dupG	ENSP00000265104:p.Pro3316fs		Somatic				DNAH5_ENST00000504001.3_Intron	p.P3316fs	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			59	10051_10052	-	Lung NSC(4;0.00476)		3316			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	c.9947_9948insC	CCDS3882.1																																																																																				0.530	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	595						10	595	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			9	247						9	247	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32087802	32087803	+	Frame_Shift_Ins	INS	-	-	G	rs157497|rs113511990	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:32087802_32087803insG	ENST00000438447.1	+	20	4636_4637	c.4248_4249insG	c.(4249-4251)gggfs	p.G1417fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G1417fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1417					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						ACTGCTGCCCAGGGGGGAGTAG	0.594																																						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.(4246-4251)ccggggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087802_32087803insG	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.4254dupG	5.37:g.32087808_32087808dupG	ENSP00000402033:p.Gly1417fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.PG1416fs	p.PG1416fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	4636_4637	+			1416					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.4248_4249insG	CCDS34137.1																																																																																				0.594	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	358						7	358	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs		Somatic				FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs	p.M325fs	NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		18	208						18	208	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|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_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_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		10	215						10	215	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		10	363						10	363	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		14	172						14	172	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggcgtfs	p.R312fs	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.R265fs	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				CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|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		7	437						7	437	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs	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_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|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		8	552						8	552	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				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.(7657-7662)ggttacfs		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.chr5:127610310_127610311insC	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.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			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)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	314						10	314	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		9	255						9	255	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000321603.6_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_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_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		11	213						11	213	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803131_137803132insC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs		Somatic					p.TP331fs	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		7	148						7	148	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049|rs199980560	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1252-1254)aatfs	p.N418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1249-1254)taatatfs																																						SO:0001589	frameshift_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563385_140563386insA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1253dupA	5.37:g.140563387_140563387dupA	ENSP00000354293:p.Asn418fs		Somatic					p.Y418fs	NM_020957.1	NP_066008.1	WXS	Illumina GAIIx	Phase_I	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2406_2407	+			418			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Frame_Shift_Ins	INS	ENST00000361016.2	37	c.1251_1252insA	CCDS4251.1																																																																																				0.455	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		39	74						39	74	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		16	1002						16	1002	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs		Somatic				SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		7	445						7	445	---	---	---	---
HRH2	3274	broad.mit.edu	37	5	175111290	175111291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			8	654						8	654	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs		Somatic				KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	p.D274fs	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		12	524						12	524	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs	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		16	369						16	369	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		34	1647						34	1647	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_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_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376902.3_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		16	425						16	425	---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30040952	30040952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:30040952delT	ENST00000244360.6	-	3	761	c.664delA	c.(664-666)atgfs	p.M222fs	RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CTATGAAGCATTTTTTTGACC	0.408																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(664-666)tgfs		ring finger protein 39							140.0	134.0	136.0					6																	30040952		1511	2709	4220	SO:0001589	frameshift_variant	80352					cytoplasm	zinc ion binding	g.chr6:30040952delT	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.664delA	6.37:g.30040952delT	ENSP00000244360:p.Met222fs		Somatic				RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	p.M222fs	NM_025236.3	NP_079512.2	WXS	Illumina GAIIx	Phase_I	Q9H2S5	RNF39_HUMAN			3	761	-			222			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Frame_Shift_Del	DEL	ENST00000244360.6	37	c.664delA	CCDS4673.1																																																																																				0.408	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		8	1394						8	1394	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		13	364						13	364	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs|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_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_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	12	528						12	528	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	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			27	647						27	647	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		15	447						15	447	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_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			19	571						19	571	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32188294	32188295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32188294_32188295insC	ENST00000375023.3	-	6	1184_1185	c.1046_1047insG	c.(1045-1047)ggcfs	p.G349fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding. {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						CACAGCTTGTGCCGCCCCAGCC	0.614																																						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.(1045-1047)gacfs		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.chr6:32188294_32188295insC		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.1047dupG	6.37:g.32188296_32188296dupC	ENSP00000364163:p.Gly349fs		Somatic					p.D349fs	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			6	1184_1185	-			349			EGF-like 8; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Ins	INS	ENST00000375023.3	37	c.1046_1047insG	CCDS34420.1																																																																																				0.614	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			14	586						14	586	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32948228_32948229insC	ENST00000374825.4	+	12	3957_3958	c.2256_2257insC	c.(2257-2259)cccfs	p.P753fs	BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P706fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P753fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P633fs	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_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs	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	311						8	311	---	---	---	---
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)gccfs	p.A489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.P454fs|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A489V(1)|p.H491fs*3(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTCG	0.53																																						ENST00000374516.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.A489V(1)|p.H491fs*3(1)	ovary(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1465-1467)cccfs		PHD finger protein 1																																				SO:0001589	frameshift_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383636_33383637insC	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1471dupC	6.37:g.33383642_33383642dupC	ENSP00000363640:p.Ala489fs		Somatic				PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	p.P489fs	NM_024165.2	NP_077084.1	WXS	Illumina GAIIx	Phase_I	O43189	PHF1_HUMAN			15	1736_1737	+		Ovarian(999;0.0443)	489					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	ENST00000374516.3	37	c.1465_1466insC	CCDS4777.1																																																																																				0.530	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			7	731						7	731	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(823-825)cccfs	p.P275fs	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.P275fs|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.P216fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	275	C2.				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						CCCGGGAGCTGCCCCCCAAGAA	0.599																																						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.(820-825)ctccccfs		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.chr6:33405504_33405505insC	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.828dupC	6.37:g.33405510_33405510dupC	ENSP00000403636:p.Pro275fs		Somatic				SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs	p.LP274fs	NM_006772.2	NP_006763.2	WXS	Illumina GAIIx	Phase_I	Q96PV0	SYGP1_HUMAN			8	923_924	+			274			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Frame_Shift_Ins	INS	ENST00000418600.2	37	c.822_823insC	CCDS34434.2																																																																																				0.599	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	378						7	378	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Intron	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:36068005_36068006insC	ENST00000229794.4	+	10	1150				MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229795.3_Frame_Shift_Ins_p.P242fs|MAPK14_ENST00000468133.1_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(721-726)acccccfs		mitogen-activated protein kinase 14																																				SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36068005_36068006insC	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2342->C	6.37:g.36068011_36068011dupC			Somatic				MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron	p.TP241fs	NM_001315.2	NP_001306.1	WXS	Illumina GAIIx	Phase_I	Q16539	MK14_HUMAN			9	1170_1171	+			241			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Frame_Shift_Ins	INS	ENST00000229794.4	37	c.723_724insC	CCDS4816.1																																																																																				0.426	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		10	595						10	595	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39874149	39874150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:39874149_39874150insC	ENST00000340692.5	-	11	1897_1898	c.1894_1895insG	c.(1894-1896)gacfs	p.D632fs	MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.D632fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000308559.7_Frame_Shift_Ins_p.D616fs|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.D529fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	632	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGATGGAAGTCCCCCCGCTGA	0.579																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1846-1848)cttfs		molybdenum cofactor synthesis 1																																				SO:0001589	frameshift_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874149_39874150insC	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1895dupG	6.37:g.39874155_39874155dupC	ENSP00000344794:p.Asp632fs		Somatic				MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs	p.L616fs			WXS	Illumina GAIIx	Phase_I	Q9NZB8	MOCS1_HUMAN			10	1979_1980	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		632			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Frame_Shift_Ins	INS	ENST00000340692.5	37	c.1846_1847insG																																																																																					0.579	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		7	588						7	588	---	---	---	---
UNC5CL	222643	broad.mit.edu	37	6	41002638	41002639	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:41002638_41002639insG	ENST00000373164.1	-	1	235_236	c.175_176insC	c.(175-177)caafs	p.Q59fs	UNC5CL_ENST00000244565.3_Frame_Shift_Ins_p.Q59fs|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	59					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)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATTTTCTAGTTGGGGGGTAGGC	0.584																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(175-177)actfs		unc-5 homolog C (C. elegans)-like																																				SO:0001589	frameshift_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002638_41002639insG	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.176dupC	6.37:g.41002644_41002644dupG	ENSP00000362258:p.Gln59fs		Somatic				UNC5CL_ENST00000373164.1_Frame_Shift_Ins_p.T59fs	p.T59fs	NM_173561.2	NP_775832.2	WXS	Illumina GAIIx	Phase_I	Q8IV45	UN5CL_HUMAN			2	263_264	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		59					Q5TGU1	Frame_Shift_Ins	INS	ENST00000373164.1	37	c.175_176insC	CCDS4847.1																																																																																				0.584	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		12	794						12	794	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45514855	45514856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:45514855_45514856insG	ENST00000371438.1	+	8	1737_1738	c.1379_1380insG	c.(1378-1383)ccggggfs	p.PG460fs	RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.PG424fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.PG446fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.PG528fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.PG438fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.PG460fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.PG506fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	460	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G462fs*22(1)|p.G530fs*22(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCATGGTGCCGGGGGGAGACC	0.545																																						ENST00000371438.1																			2	Deletion - Frameshift(2)	p.G462fs*22(1)|p.G530fs*22(1)	breast(2)	breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	GRCh37	CI993282	RUNX2	I		c.(1378-1380)cggfs		runt-related transcription factor 2																																				SO:0001589	frameshift_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514855_45514856insG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1385dupG	6.37:g.45514861_45514861dupG	ENSP00000360493:p.Pro460fs		Somatic				RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.R506fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.R460fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.R438fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.R424fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.R528fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.R446fs	p.R460fs	NM_001024630.3	NP_001019801.3	WXS	Illumina GAIIx	Phase_I	Q13950	RUNX2_HUMAN			8	1737_1738	+			460			Interaction with MYST4.|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Frame_Shift_Ins	INS	ENST00000371438.1	37	c.1379_1380insG	CCDS43467.2																																																																																				0.545	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		7	280						7	280	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50805703	50805704	+	Frame_Shift_Ins	INS	-	-	G	rs34365845|rs143212621		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:50805703_50805704insG	ENST00000393655.3	+	5	1006_1007	c.837_838insG	c.(838-840)gggfs	p.G280fs	TFAP2B_ENST00000263046.4_Frame_Shift_Ins_p.G289fs	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	280					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATCGAAAAATGGGGGGAGATC	0.436																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(862-867)aaggggfs		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)																																				SO:0001589	frameshift_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805703_50805704insG	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.843dupG	6.37:g.50805709_50805709dupG	ENSP00000377265:p.Gly280fs		Somatic				TFAP2B_ENST00000393655.3_Frame_Shift_Ins_p.KG279fs	p.KG288fs			WXS	Illumina GAIIx	Phase_I	Q92481	AP2B_HUMAN			6	1030_1031	+	Lung NSC(77;0.156)		279					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Frame_Shift_Ins	INS	ENST00000393655.3	37	c.864_865insG	CCDS4934.2																																																																																				0.436	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		7	366						7	366	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			11	333						11	333	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5419-5421)cagfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs		Somatic				REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs	p.Q1807fs			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6236_6237	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5420_5421insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		18	442						18	442	---	---	---	---
MARCKS	4082	broad.mit.edu	37	6	114181729	114181730	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:114181729_114181730insC	ENST00000368635.4	+	2	1354_1355	c.973_974insC	c.(973-975)gccfs	p.A325fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	325					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644																																						ENST00000368635.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(973-975)cccfs		myristoylated alanine-rich protein kinase C substrate																																				SO:0001589	frameshift_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181729_114181730insC	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.980dupC	6.37:g.114181736_114181736dupC	ENSP00000357624:p.Ala325fs		Somatic					p.P325fs	NM_002356.5	NP_002347.5	WXS	Illumina GAIIx	Phase_I	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	1354_1355	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	325					E1P560|Q2LA83|Q5TDB7	Frame_Shift_Ins	INS	ENST00000368635.4	37	c.973_974insC	CCDS5101.1																																																																																				0.644	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		8	88						8	88	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_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		16	431						16	431	---	---	---	---
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C	rs200339078		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1111-1113)cccfs	p.P371fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.49																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(1108-1113)aaccccfs		uronyl-2-sulfotransferase																																				SO:0001589	frameshift_variant	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395141_149395142insC	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.1117dupC	6.37:g.149395148_149395148dupC	ENSP00000356433:p.Pro371fs		Somatic				UST_ENST00000466695.1_3'UTR	p.NP370fs	NM_005715.2	NP_005706.1	WXS	Illumina GAIIx	Phase_I	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1213_1214	+		Ovarian(120;0.0907)	370					B2RCX6	Frame_Shift_Ins	INS	ENST00000367463.4	37	c.1110_1111insC	CCDS5213.1																																																																																				0.490	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		15	275						15	275	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151670999	151671000	+	Frame_Shift_Ins	INS	-	-	C	rs377601028		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:151670999_151671000insC	ENST00000253332.1	+	3	1662_1663	c.1473_1474insC	c.(1474-1476)cccfs	p.P492fs	snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.P387fs|AKAP12_ENST00000402676.2_Frame_Shift_Ins_p.P492fs|AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.P394fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	492	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCTGTCCAAACCCCCCGAAGG	0.525																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1471-1476)aaccccfs		A kinase (PRKA) anchor protein 12																																				SO:0001589	frameshift_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670999_151671000insC	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1479dupC	6.37:g.151671005_151671005dupC	ENSP00000253332:p.Pro492fs		Somatic				AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.NP393fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.NP386fs|AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.NP491fs	p.NP491fs	NM_005100.3	NP_005091.2	WXS	Illumina GAIIx	Phase_I	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1713_1714	+		Ovarian(120;0.125)	491			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Ins	INS	ENST00000253332.1	37	c.1473_1474insC	CCDS5229.1																																																																																				0.525	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			8	492						8	492	---	---	---	---
RMND1	55005	broad.mit.edu	37	6	151744740	151744741	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:151744740_151744741insC	ENST00000367303.4	-	7	978_979	c.856_857insG	c.(856-858)gaafs	p.E286fs	RMND1_ENST00000336451.3_Frame_Shift_Ins_p.E75fs	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	286					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TAACTTGATTTCCCCCCTGTGA	0.361																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(856-858)aatfs		required for meiotic nuclear division 1 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	55005							g.chr6:151744740_151744741insC	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.857dupG	6.37:g.151744746_151744746dupC	ENSP00000356272:p.Glu286fs		Somatic				RMND1_ENST00000336451.3_Frame_Shift_Ins_p.N75fs	p.N286fs	NM_017909.2	NP_060379.2	WXS	Illumina GAIIx	Phase_I	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	7	978_979	-		Ovarian(120;0.125)	286					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Frame_Shift_Ins	INS	ENST00000367303.4	37	c.856_857insG	CCDS5232.1																																																																																				0.361	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		7	201						7	201	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160963769	160963770	+	Frame_Shift_Ins	INS	-	-	C	rs201966517		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		9	400						9	400	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			17	283						17	283	---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6474590	6474591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6474590_6474591insC	ENST00000297056.6	-	4	649_650	c.480_481insG	c.(478-483)gggaaafs	p.K161fs	DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.K120fs|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.K34fs	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_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000421761.2_Intron	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		11	280						11	280	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G	rs554628923	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GTGTGCCTCCCGGGGGGGAGGT	0.569																																						ENST00000486256.1																			0																																																			441194							g.chr7:6759412_6759413insG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6759419_6759419dupG			Somatic						NR_002217.1		WXS	Illumina GAIIx	Phase_I					0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.569	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		8	193						8	193	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)gggfs		nucleoporin like 2				6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				SO:0001589	frameshift_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224772_23224773insG	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs		Somatic				NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	p.G69fs	NM_007342.2	NP_031368.1	WXS	Illumina GAIIx	Phase_I	O15504	NUPL2_HUMAN			2	464_465	+			69					A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	c.205_206insG	CCDS5379.1																																																																																				0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		7	206						7	206	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)ggcfs	p.G105fs	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.G105fs|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(313-315)gagfs		deafness, autosomal dominant 5																																				SO:0001589	frameshift_variant	1687				sensory perception of sound			g.chr7:24784270_24784271insC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.315dupG	7.37:g.24784276_24784276dupC	ENSP00000339587:p.Gly105fs		Somatic				DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000545231.1_5'UTR	p.E105fs	NM_004403.2	NP_004394.1	WXS	Illumina GAIIx	Phase_I	O60443	DFNA5_HUMAN			3	739_740	-			105					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Frame_Shift_Ins	INS	ENST00000342947.3	37	c.314_315insG	CCDS5389.1																																																																																				0.559	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		7	369						7	369	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148083	27148084	+	Frame_Shift_Ins	INS	-	-	C	rs576449568		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:27148083_27148084insC	ENST00000396352.4	-	3	981_982	c.782_783insG	c.(781-783)ggcfs	p.G261fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.G261fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	261					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TTGGAGACTGGCCCCCCGATGA	0.594																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(781-783)gcafs		homeobox A3																																				SO:0001589	frameshift_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148083_27148084insC		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.783dupG	7.37:g.27148089_27148089dupC	ENSP00000379640:p.Gly261fs		Somatic				HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.A261fs	p.A261fs	NM_030661.4	NP_109377.1	WXS	Illumina GAIIx	Phase_I	O43365	HXA3_HUMAN			3	981_982	-			261					A4D181	Frame_Shift_Ins	INS	ENST00000396352.4	37	c.782_783insG	CCDS5404.1																																																																																				0.594	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			8	429						8	429	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|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				FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron	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		16	404						16	404	---	---	---	---
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395154.3_In_Frame_Del_p.D19del|STX1A_ENST00000395156.3_In_Frame_Del_p.D19del|STX1A_ENST00000395155.3_In_Frame_Del_p.D19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					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)				GTGACAGCGACATCATCATCATC	0.586																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(55-60)gtc>g		syntaxin 1A (brain)																																				SO:0001651	inframe_deletion	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.chr7:73123425_73123427delCAT		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.56_58delATG	7.37:g.73123434_73123436delCAT	ENSP00000222812:p.Asp19del		Somatic				STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del	p.DV19del	NM_004603.3	NP_004594.1	WXS	Illumina GAIIx	Phase_I	Q16623	STX1A_HUMAN			2	82_84	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	19					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	In_Frame_Del	DEL	ENST00000222812.3	37	c.56_58delATG	CCDS34655.1																																																																																				0.586	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		7	821						7	821	---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76826169	76826170	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	452						9	452	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.P192fs|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	192					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAGGACCGTGCCCCCCGACTT	0.564																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-576)gtccccfs		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415681_86415682insC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.579dupC	7.37:g.86415687_86415687dupC	ENSP00000355316:p.Pro192fs		Somatic				GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	p.VP191fs	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			3	1672_1673	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Ins	INS	ENST00000361669.2	37	c.573_574insC	CCDS5600.1																																																																																				0.564	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			11	515						11	515	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)tttgcafs	p.A204fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000453593.1_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_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_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	727						8	727	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92761060	92761061	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:92761060_92761061insT	ENST00000318238.4	-	5	5440_5441	c.4224_4225insA	c.(4222-4227)aaacaafs	p.Q1409fs	SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.Q1409fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.Q1409fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1409					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCGGAGTTGTTTTTTTAGCG	0.406																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4222-4227)aaaactfs		sterile alpha motif domain containing 9-like																																				SO:0001589	frameshift_variant	219285							g.chr7:92761060_92761061insT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4225dupA	7.37:g.92761067_92761067dupT	ENSP00000326247:p.Gln1409fs		Somatic				SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.T1409fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.T1409fs	p.T1409fs	NM_152703.2	NP_689916.2	WXS	Illumina GAIIx	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5440_5441	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1409					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	ENST00000318238.4	37	c.4224_4225insA	CCDS34681.1																																																																																				0.406	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		9	1268						9	1268	---	---	---	---
PON3	5446	broad.mit.edu	37	7	94993290	94993291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:94993290_94993291insA	ENST00000265627.5	-	6	589_590	c.579_580insT	c.(577-582)tttgagfs	p.E194fs	PON3_ENST00000427422.1_Frame_Shift_Ins_p.E194fs|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Frame_Shift_Ins_p.E194fs	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	194					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AAGATCATCTCAAAAAATGACA	0.441																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(577-582)ttagatfs		paraoxonase 3																																				SO:0001589	frameshift_variant	5446							g.chr7:94993290_94993291insA	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.580dupT	7.37:g.94993296_94993296dupA	ENSP00000265627:p.Glu194fs		Somatic				PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs|PON1_ENST00000542556.1_Intron	p.LD193fs	NM_000940.2	NP_000931.1	WXS	Illumina GAIIx	Phase_I			STAD - Stomach adenocarcinoma(171;0.0151)		6	589_590	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Frame_Shift_Ins	INS	ENST00000265627.5	37	c.579_580insT	CCDS5639.1																																																																																				0.441	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		7	881						7	881	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97822843	97822844	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:97822843_97822844insC	ENST00000297293.5	+	11	3359_3360	c.3066_3067insC	c.(3067-3069)cccfs	p.P1023fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1023					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)			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)					AGAAACTAGTGCCCCCCGATAA	0.594																																						ENST00000297293.5																			0				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.(3064-3069)gtccccfs		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.chr7:97822843_97822844insC	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.3072dupC	7.37:g.97822849_97822849dupC	ENSP00000297293:p.Pro1023fs		Somatic					p.VP1022fs	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			11	3359_3360	+	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)		1022					A4D272|Q75MG7|Q9UPS3	Frame_Shift_Ins	INS	ENST00000297293.5	37	c.3066_3067insC	CCDS5654.1																																																																																				0.594	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	192						7	192	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98550874	98550875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:98550874_98550875insC	ENST00000359863.4	+	39	5736_5737	c.5527_5528insC	c.(5527-5529)gccfs	p.A1843fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.A1825fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.A1824fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1843					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)	p.A1843T(1)|p.A1825T(1)		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)			GGTGGAGCACGCCCCCCACCAC	0.644																																						ENST00000359863.4																			2	Substitution - Missense(2)	p.A1843T(1)|p.A1825T(1)	central_nervous_system(2)	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.(5527-5529)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.chr7:98550874_98550875insC	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.5533dupC	7.37:g.98550880_98550880dupC	ENSP00000352925:p.Ala1843fs		Somatic				TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P1825fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P1824fs	p.P1843fs	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		39	5736_5737	+	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)		1843					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.5527_5528insC	CCDS59066.1																																																																																				0.644	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	444						7	444	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		34	1153						34	1153	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-129)ttccccfs	p.FP42fs	FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.FP30fs|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.FP42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.FP42fs|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.FP80fs	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_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|PCOLCE-AS1_ENST00000442166.2_RNA	p.S42fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			2	447_448	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		42			F-box.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.125_126insC	CCDS5698.1																																																																																				0.569	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			10	659						10	659	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs		Somatic					p.S389fs	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		17	305						17	305	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100452359	100452360	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100452359_100452360insG	ENST00000354161.3	+	3	424_425	c.299_300insG	c.(298-303)caggggfs	p.QG100fs	SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.QG100fs|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.QG100fs|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000415287.1_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	100					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)					GGAGCCGTGCAGGGGGGCGGAG	0.614																																						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.(298-300)cggfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100452359_100452360insG	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.305dupG	7.37:g.100452365_100452365dupG	ENSP00000275730:p.Gln100fs		Somatic				SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R100fs|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R100fs	p.R100fs	NM_020246.3	NP_064631.2	WXS	Illumina GAIIx	Phase_I	Q9BXP2	S12A9_HUMAN			3	424_425	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		100					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.299_300insG	CCDS5707.1																																																																																				0.614	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		7	411						7	411	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|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)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs		Somatic					p.R119fs	NM_001283.3	NP_001274.1	WXS	Illumina GAIIx	Phase_I	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		15	265						15	265	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100817873	100817874	+	Frame_Shift_Ins	INS	-	-	C	rs554248246|rs201666132	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		12	338						12	338	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			11	142						11	142	---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105122809	105122810	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:105122809_105122810insT	ENST00000356362.2	-	8	1212_1213	c.998_999insA	c.(997-999)aacfs	p.N333fs	PUS7_ENST00000469408.1_Frame_Shift_Ins_p.N333fs	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	333					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATTTCAGTGGGTTTTTTTGATA	0.411																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(997-999)accfs		pseudouridylate synthase 7 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105122809_105122810insT	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.999dupA	7.37:g.105122816_105122816dupT	ENSP00000348722:p.Asn333fs		Somatic				PUS7_ENST00000469408.1_Frame_Shift_Ins_p.T333fs	p.T333fs	NM_019042.3	NP_061915.2	WXS	Illumina GAIIx	Phase_I	Q96PZ0	PUS7_HUMAN			8	1212_1213	-			333					Q75MG4|Q9NX19	Frame_Shift_Ins	INS	ENST00000356362.2	37	c.998_999insA	CCDS34725.1																																																																																				0.411	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		7	612						7	612	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107572729	107572730	+	Frame_Shift_Ins	INS	-	-	C	rs57244800	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107572729_107572730insC	ENST00000222399.6	-	28	4511_4512	c.4281_4282insG	c.(4279-4284)gggcctfs	p.P1428fs	LAMB1_ENST00000393561.1_Frame_Shift_Ins_p.P1452fs|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1428	Domain alpha.				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						CCACAGCCAGGCCCCCCACACT	0.584																																						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.(4351-4356)ggctggfs		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.chr7:107572729_107572730insC	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.4282dupG	7.37:g.107572735_107572735dupC	ENSP00000222399:p.Pro1428fs		Somatic				LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs|LAMB1_ENST00000474380.1_5'UTR	p.W1452fs			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			26	4537_4538	-			1428			Domain I.		Q14D91	Frame_Shift_Ins	INS	ENST00000222399.6	37	c.4353_4354insG	CCDS5750.1																																																																																				0.584	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		9	644						9	644	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs		Somatic				CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		22	2857						22	2857	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2250)ctccccfs	p.LP749fs	EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.LP648fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.LP37fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.LP359fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.46																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2245-2247)cccfs		exocyst complex component 4																																				SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133682284_133682285insC	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2252dupC	7.37:g.133682290_133682290dupC	ENSP00000253861:p.Leu749fs		Somatic				EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs	p.P749fs	NM_021807.3	NP_068579.3	WXS	Illumina GAIIx	Phase_I	Q96A65	EXOC4_HUMAN			15	2275_2276	+		Esophageal squamous(399;0.129)	749					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Ins	INS	ENST00000253861.4	37	c.2246_2247insC	CCDS5829.1																																																																																				0.460	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		14	482						14	482	---	---	---	---
SVOPL	136306	broad.mit.edu	37	7	138312995	138312996	+	Frame_Shift_Ins	INS	-	-	C	rs562489887|rs79662895		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:138312995_138312996insC	ENST00000419765.3	-	10	1009_1010	c.976_977insG	c.(976-978)gacfs	p.D326fs	SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.D174fs|SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.D174fs|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000421622.1_Frame_Shift_Ins_p.D206fs	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	326						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(616-618)ctcfs		SVOP-like																																				SO:0001589	frameshift_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312995_138312996insC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.977dupG	7.37:g.138313002_138313002dupC	ENSP00000405482:p.Asp326fs		Somatic				SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs|SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs	p.L206fs			WXS	Illumina GAIIx	Phase_I	Q8N434	SVOPL_HUMAN			7	824_825	-			326						Frame_Shift_Ins	INS	ENST00000419765.3	37	c.616_617insG	CCDS47721.1																																																																																				0.554	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		12	345						12	345	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		10	600						10	600	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					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)					ACATGGAATGGCCCCCCAAGAA	0.505																																						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.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	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.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs		Somatic					p.I424fs	NM_019841.4	NP_062815.2	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		17	879						17	879	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs	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		9	541						9	541	---	---	---	---
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		9	351						9	351	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18725321	18725322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:18725321_18725322insC	ENST00000327040.8	-	4	1598_1599	c.1496_1497insG	c.(1495-1497)ggafs	p.G499fs	PSD3_ENST00000440756.2_Frame_Shift_Ins_p.G499fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs	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_ENST00000523619.1_Frame_Shift_Ins_p.G434fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.G499fs	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		9	1253						9	1253	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs		Somatic					p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	WXS	Illumina GAIIx	Phase_I	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		7	358						7	358	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G	rs190037930		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		8	589						8	589	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E|TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458														16	0.00319489	0.0045	0.0014	5008	,	,		22458	0.0		0.001	False		,,,				2504	0.0082					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-153)gag>ga		tumor protein p53 inducible nuclear protein 1			,	50,2,4210		0,0,50,0,2,2079					,	-3.8	0.0			119	68,3,8183		0,0,68,0,3,4056	no	codingComplex,codingComplex	TP53INP1	NM_033285.3,NM_001135733.1	,	0,0,118,0,5,6135	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8602,1.2201,0.9827	,	,		118,5,12393				SO:0001651	inframe_deletion	94241				apoptosis	PML body		g.chr8:95952409_95952411delTCT	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150_152delAGA	8.37:g.95952418_95952420delTCT	ENSP00000344215:p.Glu52del		Somatic				NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	p.EE50del	NM_033285.3	NP_150601.1	WXS	Illumina GAIIx	Phase_I	Q96A56	T53I1_HUMAN			3	557_559	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	In_Frame_Del	DEL	ENST00000342697.4	37	c.150_152delAGA	CCDS6265.1																																																																																				0.458	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			13	313						13	313	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131073043	131073044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	346						7	346	---	---	---	---
RNF38	152006	broad.mit.edu	37	9	36353239	36353240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:36353239_36353240insG	ENST00000259605.6	-	7	1105_1106	c.998_999insC	c.(997-999)ccafs	p.P333fs	RNF38_ENST00000357058.3_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.P257fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.P283fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.P250fs	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGGC	0.46																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(748-750)cacfs		ring finger protein 38																																				SO:0001589	frameshift_variant	152006						zinc ion binding	g.chr9:36353239_36353240insG		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.999dupC	9.37:g.36353245_36353245dupG	ENSP00000259605:p.Pro333fs		Somatic				RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs	p.H250fs	NM_194328.2	NP_919309.1	WXS	Illumina GAIIx	Phase_I	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	1355_1356	-			333			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Frame_Shift_Ins	INS	ENST00000259605.6	37	c.749_750insC	CCDS6603.1																																																																																				0.460	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		8	317						8	317	---	---	---	---
SPATA31A3	727830	broad.mit.edu	37	9	40702705	40702706	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:40702705_40702706insC	ENST00000356699.5	+	4	391_392	c.362_363insC	c.(361-366)gaccccfs	p.DP121fs	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	121	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCGGTCCAGACCCCCCAGGTG	0.624																																						ENST00000356699.5																			0											c.(361-363)gccfs		SPATA31 subfamily A, member 3																																				SO:0001589	frameshift_variant	727830							g.chr9:40702705_40702706insC			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.368dupC	9.37:g.40702711_40702711dupC	ENSP00000349132:p.Asp121fs		Somatic				SPATA31A3_ENST00000463536.1_3'UTR	p.A121fs	NM_001083124.1	NP_001076593.1	WXS	Illumina GAIIx	Phase_I					4	391_392	+									Frame_Shift_Ins	INS	ENST00000356699.5	37	c.362_363insC	CCDS47969.1																																																																																				0.624	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		7	564						7	564	---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91956314	91956315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:91956314_91956315insG	ENST00000375807.3	+	10	1426_1427	c.1355_1356insG	c.(1354-1359)ttggggfs	p.LG452fs	SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.LG384fs|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.LG379fs	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		9	229						9	229	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:95649123_95649124insC	ENST00000446878.1	+	0	1719				ANKRD19P_ENST00000473204.1_RNA																							GCAATCTAGCACCCCCCAAAAG	0.54																																						ENST00000473204.1																			0																																																			138649							g.chr9:95649123_95649124insC																													9.37:g.95649129_95649129dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	2259	+									RNA	INS	ENST00000446878.1	37																																																																																						0.540	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000316907.1			8	416						8	416	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs		Somatic				ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs	p.W1803fs			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	500						8	500	---	---	---	---
PTGS1	5742	broad.mit.edu	37	9	125141076	125141077	+	Frame_Shift_Ins	INS	-	-	C	rs147795437		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:125141076_125141077insC	ENST00000362012.2	+	5	380_381	c.375_376insC	c.(376-378)cccfs	p.P126fs	PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P17fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P126fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P101fs	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	126					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTATCCCCAGTCCCCCCACCTA	0.535																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(373-378)agccccfs		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)																																			SO:0001589	frameshift_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125141076_125141077insC	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.381dupC	9.37:g.125141082_125141082dupC	ENSP00000354612:p.Pro126fs		Somatic				PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.SP16fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.SP125fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.SP100fs	p.SP125fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	WXS	Illumina GAIIx	Phase_I	P23219	PGH1_HUMAN			5	380_381	+			125					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Frame_Shift_Ins	INS	ENST00000362012.2	37	c.375_376insC	CCDS6842.1																																																																																				0.535	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			9	234						9	234	---	---	---	---
PTGS1	5742	broad.mit.edu	37	9	125148875	125148876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:125148875_125148876insC	ENST00000362012.2	+	9	1165_1166	c.1160_1161insC	c.(1159-1164)caccccfs	p.HP387fs	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.HP278fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.HP387fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.HP362fs	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	387					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACCACTGGCACCCCCTCATGC	0.54																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1159-1161)cccfs		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)																																			SO:0001589	frameshift_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125148875_125148876insC	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1165dupC	9.37:g.125148880_125148880dupC	ENSP00000354612:p.His387fs		Somatic				AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P278fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P387fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P362fs	p.P387fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	WXS	Illumina GAIIx	Phase_I	P23219	PGH1_HUMAN			9	1165_1166	+			387					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Frame_Shift_Ins	INS	ENST00000362012.2	37	c.1160_1161insC	CCDS6842.1																																																																																				0.540	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			8	705						8	705	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	910158	910159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:910158_910159insC	ENST00000316157.3	-	3	233_234	c.193_194insG	c.(193-195)gctfs	p.A65fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	65					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAACACAGGAGCCCCCCACACT	0.52																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(193-195)tccfs		La ribonucleoprotein domain family, member 4B																																				SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:910158_910159insC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.194dupG	10.37:g.910164_910164dupC	ENSP00000326128:p.Ala65fs		Somatic					p.S65fs	NM_015155.1	NP_055970.1	WXS	Illumina GAIIx	Phase_I	Q92615	LAR4B_HUMAN			3	233_234	-			65					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Ins	INS	ENST00000316157.3	37	c.193_194insG	CCDS31131.1																																																																																				0.520	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		8	351						8	351	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	418						7	418	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G	rs573639267	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:21962451_21962452insG	ENST00000307729.7	+	11	1402_1403	c.1224_1225insG	c.(1225-1227)gggfs	p.G409fs	MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377072.3_Frame_Shift_Ins_p.G409fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	409	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Insertion - Frameshift(1)	p.V411fs*3(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1222-1227)gaggggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10																																				SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962451_21962452insG	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1231dupG	10.37:g.21962458_21962458dupG	ENSP00000307411:p.Gly409fs		Somatic				MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	p.EG408fs	NM_004641.3	NP_004632.1	WXS	Illumina GAIIx	Phase_I	P55197	AF10_HUMAN			11	1572_1573	+			408			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Ins	INS	ENST00000307729.7	37	c.1224_1225insG	CCDS55708.1																																																																																				0.436	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			13	464						13	464	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34400165	34400166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:34400165_34400166insG	ENST00000374789.3	-	25	4327_4328	c.4002_4003insC	c.(4000-4005)ccctccfs	p.S1335fs	PARD3_ENST00000374790.3_Frame_Shift_Ins_p.S1275fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.S1332fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.S1289fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.S1245fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.S1298fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.S1319fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.S1223fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1335					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGAGAAGGGGAGGGGGGCACAT	0.579																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(4000-4005)ccccccfs		par-3 family cell polarity regulator			,,,,,,,	3,4261		0,3,2129					,,,,,,,	6.2	0.8			48	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	PARD3	NM_019619.3,NM_001184791.1,NM_001184790.1,NM_001184789.1,NM_001184788.1,NM_001184787.1,NM_001184786.1,NM_001184785.1	,,,,,,,	0,3,6256	A1A1,A1R,RR		0.0,0.0704,0.024	,,,,,,,	,,,,,,,		3,12515				SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400165_34400166insG	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4003dupC	10.37:g.34400171_34400171dupG	ENSP00000363921:p.Ser1335fs		Somatic				PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs	p.PP1334fs	NM_019619.3	NP_062565.2	WXS	Illumina GAIIx	Phase_I	Q8TEW0	PARD3_HUMAN			25	4327_4328	-		Breast(68;0.0707)	1334					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Ins	INS	ENST00000374789.3	37	c.4002_4003insC	CCDS7178.1																																																																																				0.579	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		10	1109						10	1109	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50530937	50530938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:50530937_50530938insC	ENST00000374144.3	+	3	635_636	c.347_348insC	c.(346-351)agccccfs	p.SP116fs	C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.SP116fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	116										endometrium(1)	1						CCCAAAACCAGCCCCCCACCAA	0.545																																						ENST00000374144.3																			0				endometrium(1)	1						c.(346-348)accfs		chromosome 10 open reading frame 71																																				SO:0001589	frameshift_variant	118461							g.chr10:50530937_50530938insC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.353dupC	10.37:g.50530943_50530943dupC	ENSP00000363259:p.Ser116fs		Somatic				C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.T116fs	p.T116fs			WXS	Illumina GAIIx	Phase_I	Q711Q0	CJ071_HUMAN			3	635_636	+			116					A0AVL8	Frame_Shift_Ins	INS	ENST00000374144.3	37	c.347_348insC	CCDS44387.1																																																																																				0.545	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		7	644						7	644	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50857606	50857607	+	Frame_Shift_Ins	INS	-	-	C	rs3793795		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:50857606_50857607insC	ENST00000337653.2	+	10	1588_1589	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs	CHAT_ENST00000351556.3_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000395562.2_Frame_Shift_Ins_p.A397fs|CHAT_ENST00000395559.2_Frame_Shift_Ins_p.A361fs	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	479					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)	CGAGCTCCCCGCCCCCCGGAGG	0.609																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1189-1191)cccfs		choline O-acetyltransferase	Choline(DB00122)																																			SO:0001589	frameshift_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857606_50857607insC	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.1441dupC	10.37:g.50857612_50857612dupC	ENSP00000337103:p.Ala479fs		Somatic				CHAT_ENST00000395559.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000337653.2_Frame_Shift_Ins_p.P479fs	p.P397fs	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)	11	1658_1659	+		all_neural(218;0.107)	479					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Frame_Shift_Ins	INS	ENST00000337653.2	37	c.1189_1190insC	CCDS7232.1																																																																																				0.609	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	135						7	135	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:51586311_51586312insC	ENST00000443446.1	+	9	1968_1969	c.1739_1740insC	c.(1738-1743)ttccccfs	p.FP580fs	NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.S535fs|NCOA4_ENST00000452682.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.FP480fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.FP414fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.FP596fs	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_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs	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	405						8	405	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000540668.1_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_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_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	47	937						47	937	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5641-5643)cccfs	p.P1881fs	KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.P1698fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372725.1_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_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|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		9	439						9	439	---	---	---	---
CYP2C18	1562	broad.mit.edu	37	10	96495136	96495137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:96495136_96495137insC	ENST00000285979.6	+	9	1607_1608	c.1408_1409insC	c.(1408-1410)accfs	p.T470fs	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.T411fs	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	470					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TATTGACATCACCCCCATTGCC	0.505																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1408-1410)cccfs		cytochrome P450, family 2, subfamily C, polypeptide 18																																				SO:0001589	frameshift_variant	1562							g.chr10:96495136_96495137insC	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1413dupC	10.37:g.96495141_96495141dupC	ENSP00000285979:p.Thr470fs		Somatic				CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.P411fs|CYP2C19_ENST00000464755.1_Intron	p.P470fs	NM_000772.2	NP_000763.1	WXS	Illumina GAIIx	Phase_I				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	9	1607_1608	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Frame_Shift_Ins	INS	ENST00000285979.6	37	c.1408_1409insC	CCDS7435.1																																																																																				0.505	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		7	1286						7	1286	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)cttfs	p.L421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.48																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1261-1263)tttfs		tolloid-like 2																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98164994_98164995insG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1262dupC	10.37:g.98165000_98165000dupG	ENSP00000350630:p.Leu421fs		Somatic				TLL2_ENST00000469598.1_5'UTR	p.F421fs	NM_012465.3	NP_036597.1	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1486_1487	-		Colorectal(252;0.0846)	421			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.1261_1262insC	CCDS7449.1																																																																																				0.480	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			8	667						8	667	---	---	---	---
PYROXD2	84795	broad.mit.edu	37	10	100152810	100152811	+	Frame_Shift_Ins	INS	-	-	C	rs374387844		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:100152810_100152811insC	ENST00000370575.4	-	9	863_864	c.815_816insG	c.(814-816)ggcfs	p.G272fs	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	272							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TTCCCTCCAGGCCCCCCATCAC	0.604																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(814-816)gctfs		pyridine nucleotide-disulphide oxidoreductase domain 2																																				SO:0001589	frameshift_variant	84795						oxidoreductase activity	g.chr10:100152810_100152811insC	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.816dupG	10.37:g.100152816_100152816dupC	ENSP00000359607:p.Gly272fs		Somatic				PYROXD2_ENST00000483923.1_5'UTR	p.A272fs	NM_032709.2	NP_116098.2	WXS	Illumina GAIIx	Phase_I	Q8N2H3	PYRD2_HUMAN			9	863_864	-			272					D3DR61|Q5TAA9|Q9BRQ1	Frame_Shift_Ins	INS	ENST00000370575.4	37	c.815_816insG	CCDS7474.1																																																																																				0.604	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		8	485						8	485	---	---	---	---
HPSE2	60495	broad.mit.edu	37	10	100995502	100995503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:100995502_100995503insG	ENST00000370552.3	-	1	116_117	c.57_58insC	c.(55-60)cccgcgfs	p.A20fs	HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.A20fs|HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.A20fs|HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.A20fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	20					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCTAGGCACGCGGGGGGGCGGG	0.594																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(55-60)cccgtgfs		heparanase 2																																				SO:0001589	frameshift_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100995502_100995503insG	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.58dupC	10.37:g.100995509_100995509dupG	ENSP00000359583:p.Ala20fs		Somatic				HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.V20fs	p.V20fs	NM_021828.4	NP_068600.4	WXS	Illumina GAIIx	Phase_I	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	1	116_117	-			20					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Frame_Shift_Ins	INS	ENST00000370552.3	37	c.57_58insC	CCDS7477.1																																																																																				0.594	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		17	106						17	106	---	---	---	---
GOT1	2805	broad.mit.edu	37	10	101163284	101163285	+	Frame_Shift_Ins	INS	-	-	G	rs574932479		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:101163284_101163285insG	ENST00000370508.5	-	7	927_928	c.900_901insC	c.(898-903)cccgccfs	p.A301fs	GOT1_ENST00000543866.1_Frame_Shift_Ins_p.A280fs	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	301					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GCTCCCTGGGCGGGGGGATTGG	0.584																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(898-903)cccccafs		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101163284_101163285insG	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.901dupC	10.37:g.101163290_101163290dupG	ENSP00000359539:p.Ala301fs		Somatic				GOT1_ENST00000543866.1_Frame_Shift_Ins_p.PP279fs	p.PP300fs	NM_002079.2	NP_002070.1	WXS	Illumina GAIIx	Phase_I	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	7	927_928	-		Ovarian(717;0.028)|Colorectal(252;0.234)	300					B2R6R7|B7Z7E9|Q5VW80	Frame_Shift_Ins	INS	ENST00000370508.5	37	c.900_901insC	CCDS7479.1																																																																																				0.584	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		9	473						9	473	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-174)gaggggfs	p.EG57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(169-171)gggfs		cutC copper transporter																																				SO:0001589	frameshift_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101499503_101499504insG	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.176dupG	10.37:g.101499509_101499509dupG	ENSP00000359507:p.Glu57fs		Somatic				CUTC_ENST00000493385.1_3'UTR	p.G57fs	NM_015960.2	NP_057044.2	WXS	Illumina GAIIx	Phase_I	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	3	299_300	+		Colorectal(252;0.234)	57					Q5TCZ8|Q9Y321	Frame_Shift_Ins	INS	ENST00000370476.5	37	c.170_171insG	CCDS7483.1																																																																																				0.401	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		9	454						9	454	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs		Somatic					p.R317fs	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		12	1131						12	1131	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs		Somatic				SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		7	763						7	763	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs		Somatic				BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	WXS	Illumina GAIIx	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		22	351						22	351	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			8	210						8	210	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9048995	9048996	+	Frame_Shift_Ins	INS	-	-	G	rs374515295		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:9048995_9048996insG	ENST00000309263.3	-	19	2601_2602	c.2529_2530insC	c.(2527-2532)cccaagfs	p.K844fs	SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000457346.2_Frame_Shift_Ins_p.K873fs|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.K816fs|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	844	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGGT	0.569																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2614-2619)ccagcgfs		signal peptide, CUB domain, EGF-like 2			,	1,4263		0,1,2131					,	5.3	1.0			128	1,8253		0,1,4126	no	frameshift,intron	SCUBE2	NM_020974.2,NM_001170690.1	,	0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016	,	,		2,12516				SO:0001589	frameshift_variant	57758					extracellular region	calcium ion binding	g.chr11:9048995_9048996insG	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.2530dupC	11.37:g.9049001_9049001dupG	ENSP00000310658:p.Lys844fs		Somatic				SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron	p.A873fs			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)	20	2690_2691	-			844			CUB.		Q2NKQ8|Q6ZWI1	Frame_Shift_Ins	INS	ENST00000309263.3	37	c.2616_2617insC																																																																																					0.569	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		7	162						7	162	---	---	---	---
PLEKHA7	144100	broad.mit.edu	37	11	16838764	16838765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:16838764_16838765insC	ENST00000355661.3	-	11	1458_1459	c.1448_1449insG	c.(1447-1449)ggcfs	p.G483fs	PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.G483fs|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_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_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.V483fs|PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.V483fs	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		7	309						7	309	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs		Somatic				PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	WXS	Illumina GAIIx	Phase_I	P26367	PAX6_HUMAN			13	1634_1635	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Ins	INS	ENST00000379132.3	37	c.1166_1167insC	CCDS31451.1																																																																																				0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		12	165						12	165	---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34154644	34154645	+	Frame_Shift_Ins	INS	-	-	C	rs61735311	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:34154644_34154645insC	ENST00000257829.3	+	16	1895_1896	c.1689_1690insC	c.(1690-1692)cccfs	p.P564fs	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Frame_Shift_Ins_p.P492fs	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	564	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGCCTCCCGTGCCCCCCACCCA	0.559																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1687-1692)gtccccfs		N-acetyltransferase 10 (GCN5-related)																																				SO:0001589	frameshift_variant	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34154644_34154645insC	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1695dupC	11.37:g.34154650_34154650dupC	ENSP00000257829:p.Pro564fs		Somatic				NAT10_ENST00000531159.2_Frame_Shift_Ins_p.VP491fs|NAT10_ENST00000527971.1_Intron	p.VP563fs	NM_024662.2	NP_078938.2	WXS	Illumina GAIIx	Phase_I	Q9H0A0	NAT10_HUMAN			16	1895_1896	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	563			N-acetyltransferase.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Frame_Shift_Ins	INS	ENST00000257829.3	37	c.1689_1690insC	CCDS7889.1																																																																																				0.559	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		7	369						7	369	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs		Somatic				APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	p.N202fs	NM_015957.2	NP_057041.2	WXS	Illumina GAIIx	Phase_I	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		11	860						11	860	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs		Somatic				LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	p.A1835fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	207						9	207	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		15	1081						15	1081	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		8	481						8	481	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1038)agccccfs	p.SP345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.SP292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1033-1035)accfs		zinc finger, DHHC-type containing 5																																				SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57464257_57464258insC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1040dupC	11.37:g.57464263_57464263dupC	ENSP00000287169:p.Ser345fs		Somatic				ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	p.T345fs	NM_015457.2	NP_056272.2	WXS	Illumina GAIIx	Phase_I	Q9C0B5	ZDHC5_HUMAN			10	2396_2397	+			345					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Ins	INS	ENST00000287169.3	37	c.1034_1035insC	CCDS7965.1																																																																																				0.515	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		7	222						7	222	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs	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-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	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		14	581						14	581	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.55																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(448-450)aggfs		olfactory receptor, family 4, subfamily D, member 11																																				SO:0001589	frameshift_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271497_59271498insG	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.455dupG	11.37:g.59271503_59271503dupG	ENSP00000320077:p.Met150fs		Somatic					p.R150fs	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	449_450	+			150						Frame_Shift_Ins	INS	ENST00000313253.1	37	c.449_450insG	CCDS31563.1																																																																																				0.550	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		7	620						7	620	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60699533	60699534	+	Frame_Shift_Ins	INS	-	-	G	rs61745629|rs183954132	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:60699533_60699534insG	ENST00000453848.2	+	7	1448_1449	c.1290_1291insG	c.(1291-1293)gggfs	p.G431fs	TMEM132A_ENST00000005286.4_Frame_Shift_Ins_p.G432fs			Q24JP5	T132A_HUMAN	transmembrane protein 132A	431						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGTGGACGGCGGGGGGGCCTT	0.644																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1291-1296)ggggggfs		transmembrane protein 132A			,	6,4258		0,6,2126					,	-7.6	0.0			59	6,8248		0,6,4121	no	frameshift,frameshift	TMEM132A	NM_178031.2,NM_017870.3	,	0,12,6247	A1A1,A1R,RR		0.0727,0.1407,0.0959	,	,		12,12506				SO:0001589	frameshift_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699533_60699534insG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1297dupG	11.37:g.60699540_60699540dupG	ENSP00000405823:p.Gly431fs		Somatic				TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.GG430fs	p.GG431fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			7	1446_1447	+			430					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Frame_Shift_Ins	INS	ENST00000453848.2	37	c.1293_1294insG	CCDS44618.1																																																																																				0.644	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		8	184						8	184	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		10	120						10	120	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	11	318						11	318	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61178448	61178449	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61178448_61178449delTC	ENST00000394888.4	-	9	1554_1555	c.1382_1383delGA	c.(1381-1383)agafs	p.R461fs	CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000340437.4_Frame_Shift_Del_p.R504fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	461	Arg-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						TATCCCGGTGTCTCTCATGCTC	0.52																																						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.(1510-1512)afs		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.chr11:61178448_61178449delTC		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.1382_1383delGA	11.37:g.61178452_61178453delTC	ENSP00000378352:p.Arg461fs		Somatic				CPSF7_ENST00000394888.4_Frame_Shift_Del_p.R461fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs	p.R504fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			9	1591_1592	-			461					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Del	DEL	ENST00000394888.4	37	c.1511_1512delGA	CCDS44619.1																																																																																				0.520	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		9	248						9	248	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs	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_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|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		10	883						10	883	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62295353	62295353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62295353delA	ENST00000378024.4	-	5	6810	c.6536delT	c.(6535-6537)ttcfs	p.F2179fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2179					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)				GGGGGTCTTGAAGTGCATCTC	0.488																																						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.(6535-6537)tcfs		AHNAK nucleoprotein							211.0	222.0	218.0					11																	62295353		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62295353delA	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.6536delT	11.37:g.62295353delA	ENSP00000367263:p.Phe2179fs		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.F2179fs	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	6810	-		Melanoma(852;0.155)	2179					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.6536delT	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	944						8	944	---	---	---	---
STX5	6811	broad.mit.edu	37	11	62598584	62598585	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62598584_62598585insG	ENST00000294179.3	-	2	284_285	c.131_132insC	c.(130-132)ccafs	p.P44fs	RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000394690.1_Splice_Site|STX5_ENST00000541317.1_Intron|RP11-727F15.9_ENST00000535817.1_RNA|STX5_ENST00000377897.4_Frame_Shift_Ins_p.P44fs	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	44					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.V45fs*38(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CGAGGGTCACTGGGGGGGGCAG	0.629																																						ENST00000294179.3																			1	Insertion - Frameshift(1)	p.V45fs*38(1)	ovary(1)	breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(130-132)cgtfs		syntaxin 5																																				SO:0001589	frameshift_variant	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62598584_62598585insG	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.132dupC	11.37:g.62598592_62598592dupG	ENSP00000294179:p.Pro44fs		Somatic				STX5_ENST00000541317.1_Intron|STX5_ENST00000377897.4_Frame_Shift_Ins_p.R44fs|STX5_ENST00000394690.1_Splice_Site	p.R44fs	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	WXS	Illumina GAIIx	Phase_I	Q13190	STX5_HUMAN			2	284_285	-			44					B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Frame_Shift_Ins	INS	ENST00000294179.3	37	c.131_132insC	CCDS8038.2																																																																																				0.629	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		2	4						2	4	---	---	---	---
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)cggfs	p.R79fs	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(235-237)gggfs		RAB1B, member RAS oncogene family																																				SO:0001589	frameshift_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66039887_66039888insG	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.241dupG	11.37:g.66039893_66039893dupG	ENSP00000310226:p.Arg79fs		Somatic				RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	p.G79fs	NM_030981.2	NP_112243.1	WXS	Illumina GAIIx	Phase_I	Q9H0U4	RAB1B_HUMAN			4	382_383	+			79			Switch 2 region; required for interaction with REP1/CHM.		A8K7S1	Frame_Shift_Ins	INS	ENST00000311481.6	37	c.235_236insG	CCDS31613.1																																																																																				0.579	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		16	455						16	455	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs		Somatic				DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			14	307						14	307	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs		Somatic				CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	WXS	Illumina GAIIx	Phase_I	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		7	114						7	114	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.G132fs	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGGGTTCTTGCCCCCCAGCTC	0.644																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(394-396)gaafs		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)																																			SO:0001589	frameshift_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433066_67433067insC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.396dupG	11.37:g.67433072_67433072dupC	ENSP00000255084:p.Gly132fs		Somatic				ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	p.E132fs	NM_000695.3	NP_000686.2	WXS	Illumina GAIIx	Phase_I	P48448	AL3B2_HUMAN			7	833_834	-			132	G -> V (in Ref. 4; BAC03897).				Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Ins	INS	ENST00000349015.3	37	c.395_396insG	CCDS31622.1																																																																																				0.644	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		10	679						10	679	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000358965.6_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			7	381						7	381	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|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 protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.55																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.e9-2		arrestin, beta 1																																				SO:0001630	splice_region_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74988494_74988495insG	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.619-2->C	11.37:g.74988500_74988500dupG			Somatic				ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site		NM_004041.4	NP_004032.2	WXS	Illumina GAIIx	Phase_I	P49407	ARRB1_HUMAN			9	716	-								B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	INS	ENST00000420843.2	37		CCDS44684.1																																																																																				0.550	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	Intron	9	699						9	699	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Intron	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:85435355_85435356insG	ENST00000528231.1	-	8	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.P1239fs	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.48																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3715-3717)cgafs		synaptotagmin-like 2																																				SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435355_85435356insG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3353->C	11.37:g.85435362_85435362dupG			Somatic				SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs	p.R1239fs	NM_206928.2	NP_996811.1	WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3715_3716	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	400					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	ENST00000528231.1	37	c.3716_3717insC	CCDS53688.1																																																																																				0.480	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		7	207						7	207	---	---	---	---
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505																																						ENST00000532510.1																			0																																																			643733							g.chr11:104778247_104778248insC																													11.37:g.104778253_104778253dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1184_1185	-									RNA	INS	ENST00000532510.1	37																																																																																						0.505	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			7	311						7	311	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1411-1413)cccfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs		Somatic				RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs	p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina GAIIx	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1731_1732	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Glu-rich.|Poly-Pro.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		10	398						10	398	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1884)atggggfs	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|NLRX1_ENST00000292199.2_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_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_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		11	204						11	204	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		12	1129						12	1129	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	180						7	180	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C	rs370128549		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	579						7	579	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G	rs563190488		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:2968087_2968088insG	ENST00000359843.3	-	9	2076_2077	c.2008_2009insC	c.(2008-2010)cttfs	p.L670fs	AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000342628.2_Frame_Shift_Ins_p.L708fs|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.L655fs	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGCA	0.579																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2122-2124)tgafs		forkhead box M1																																				SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968087_2968088insG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2009dupC	12.37:g.2968094_2968094dupG	ENSP00000352901:p.Leu670fs		Somatic				ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs|FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs	p.*708fs	NM_202002.2	NP_973731.1	WXS	Illumina GAIIx	Phase_I	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2235_2236	-			670					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Ins	INS	ENST00000359843.3	37	c.2122_2123insC	CCDS8515.1																																																																																				0.579	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		7	136						7	136	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3649792	3649793	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:3649792_3649793insC	ENST00000382622.3	+	2	486_487	c.96_97insC	c.(97-99)cccfs	p.P33fs	PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.P24fs|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	33					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCCCTCCCAGCCCCCCCAGCC	0.644																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(94-99)caccccfs		protein arginine methyltransferase 8																																				SO:0001589	frameshift_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649792_3649793insC	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.103dupC	12.37:g.3649799_3649799dupC	ENSP00000372067:p.Pro33fs		Somatic				PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.HP23fs|PRMT8_ENST00000261252.4_3'UTR	p.HP32fs	NM_019854.4	NP_062828.3	WXS	Illumina GAIIx	Phase_I	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	486_487	+			32					B2RDP0|Q8TBJ8	Frame_Shift_Ins	INS	ENST00000382622.3	37	c.96_97insC	CCDS8521.2																																																																																				0.644	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		8	93						8	93	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6657973	6657974	+	Frame_Shift_Ins	INS	-	-	C	rs371982613		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:6657973_6657974insC	ENST00000396840.2	-	5	1130_1131	c.1089_1090insG	c.(1087-1092)gggcggfs	p.R364fs	IFFO1_ENST00000465801.1_Frame_Shift_Ins_p.R60fs|IFFO1_ENST00000336604.4_Frame_Shift_Ins_p.R367fs|IFFO1_ENST00000356896.4_Frame_Shift_Ins_p.R367fs|IFFO1_ENST00000436152.2_Frame_Shift_Ins_p.R60fs			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	364						intermediate filament (GO:0005882)		p.R364fs*19(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCCCGCTTCCGCCCCCCCATGG	0.673																																						ENST00000436152.2																			1	Insertion - Frameshift(1)	p.R364fs*19(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(175-180)ggggaafs		intermediate filament family orphan 1			,,	8,4256		0,8,2124					,,	3.7	1.0			20	15,8229		0,15,4107	no	frameshift,frameshift,frameshift	IFFO1	NM_080730.4,NM_001193457.1,NM_001039670.2	,,	0,23,6231	A1A1,A1R,RR		0.182,0.1876,0.1839	,,	,,		23,12485				SO:0001589	frameshift_variant	25900					intermediate filament		g.chr12:6657973_6657974insC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1090dupG	12.37:g.6657980_6657980dupC	ENSP00000380052:p.Arg364fs		Somatic				IFFO1_ENST00000356896.4_Frame_Shift_Ins_p.E367fs|IFFO1_ENST00000396840.2_Frame_Shift_Ins_p.E364fs|IFFO1_ENST00000465801.1_Frame_Shift_Ins_p.E60fs|IFFO1_ENST00000336604.4_Frame_Shift_Ins_p.E367fs	p.E60fs			WXS	Illumina GAIIx	Phase_I	Q0D2I5	IFFO1_HUMAN			7	736_737	-			364					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Frame_Shift_Ins	INS	ENST00000396840.2	37	c.177_178insG																																																																																					0.673	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		8	72						8	72	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		19	577						19	577	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6952601	6952602	+	Frame_Shift_Ins	INS	-	-	G	rs201963490		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:6952601_6952602insG	ENST00000229264.3	+	7	747_748	c.342_343insG	c.(343-345)gggfs	p.G115fs	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Frame_Shift_Ins_p.G115fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	115					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.G115W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TTGTGGCATGTGGGGGGCTGGA	0.584																																						ENST00000229264.3																			1	Substitution - Missense(1)	p.G115W(1)	lung(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(340-345)tgggggfs		guanine nucleotide binding protein (G protein), beta polypeptide 3																																				SO:0001589	frameshift_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952601_6952602insG		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.348dupG	12.37:g.6952607_6952607dupG	ENSP00000229264:p.Gly115fs		Somatic				GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs	p.WG114fs	NM_002075.2	NP_002066.1	WXS	Illumina GAIIx	Phase_I	P16520	GBB3_HUMAN			7	747_748	+			114					Q96B71|Q9BQC0	Frame_Shift_Ins	INS	ENST00000229264.3	37	c.342_343insG	CCDS8564.1																																																																																				0.584	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		7	410						7	410	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	402						7	402	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-477)tgccccfs	p.CP158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.CP158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(472-474)tccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171652_7171653insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.479dupC	12.37:g.7171658_7171658dupC	ENSP00000385035:p.Cys158fs		Somatic				C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs	p.S158fs			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			8	1101_1102	+			158			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.473_474insC	CCDS31735.1																																																																																				0.455	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		7	350						7	350	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)accfs	p.T684fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.T517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.T684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.T684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.49																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2050-2052)cccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177938_7177939insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2056dupC	12.37:g.7177944_7177944dupC	ENSP00000385035:p.Thr684fs		Somatic				C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs	p.P684fs			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			15	2678_2679	+			684					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.2050_2051insC	CCDS31735.1																																																																																				0.490	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		7	500						7	500	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	904						7	904	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12278301	12278302	+	Frame_Shift_Ins	INS	-	-	G	rs370547081		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:12278301_12278302insG	ENST00000261349.4	-	21	4453_4454	c.4377_4378insC	c.(4375-4380)ccctatfs	p.Y1460fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.Y1415fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1460					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)				GCTCGGTCATAGGGGGGTCCAC	0.446																																						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.(4375-4380)ccatgafs		low density lipoprotein receptor-related protein 6				0,4264		0,0,2132						5.7	1.0			99	1,8253		0,1,4126	no	frameshift	LRP6	NM_002336.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				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.chr12:12278301_12278302insG	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.4378dupC	12.37:g.12278307_12278307dupG	ENSP00000261349:p.Tyr1460fs		Somatic				LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.*1415fs	p.*1460fs	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			21	4453_4454	-		Prostate(47;0.0865)	1460					Q17RZ2	Frame_Shift_Ins	INS	ENST00000261349.4	37	c.4377_4378insC	CCDS8647.1																																																																																				0.446	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			7	415						7	415	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			40	1666						40	1666	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1191)gtggggfs	p.VG396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATCTACATCGTGGGGGGGTGTC	0.594																																						ENST00000381271.2																			0											c.(1186-1188)gggfs		kelch-like family member 42																																				SO:0001589	frameshift_variant	57542							g.chr12:27950768_27950769insG	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1194dupG	12.37:g.27950775_27950775dupG	ENSP00000370671:p.Val396fs		Somatic					p.G396fs	NM_020782.1	NP_065833.1	WXS	Illumina GAIIx	Phase_I					3	1498_1499	+								Q2VPK1|Q8N334	Frame_Shift_Ins	INS	ENST00000381271.2	37	c.1187_1188insG	CCDS31763.1																																																																																				0.594	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		39	556						39	556	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs		Somatic					p.P647fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	378						16	378	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			19	3335						19	3335	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs	p.G490fs			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		10	358						10	358	---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		8	727						8	727	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		20	424						20	424	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		11	1113						11	1113	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58160653	58160654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:58160653_58160654insC	ENST00000228606.4	-	1	380_381	c.171_172insG	c.(169-174)gggctgfs	p.L58fs	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	58					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGCCTCGACAGCCCCCCCTTGC	0.599																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(169-174)ggtgtcfs		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)																																			SO:0001589	frameshift_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160653_58160654insC	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.172dupG	12.37:g.58160660_58160660dupC	ENSP00000228606:p.Leu58fs		Somatic				RP11-571M6.13_ENST00000546609.1_RNA	p.V58fs	NM_000785.3	NP_000776.1	WXS	Illumina GAIIx	Phase_I	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	380_381	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		58					B2RC61|Q548T3	Frame_Shift_Ins	INS	ENST00000228606.4	37	c.171_172insG	CCDS8954.1																																																																																				0.599	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		11	208						11	208	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691|rs374056986	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:58174036_58174037insG	ENST00000300209.8	+	3	414		c.e3-1		METTL21B_ENST00000548256.1_Splice_Site|TSFM_ENST00000350762.5_5'Flank|METTL21B_ENST00000333012.5_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000540550.1_5'Flank|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000548851.1_5'Flank|TSFM_ENST00000543727.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000454289.3_5'Flank|METTL21B_ENST00000551420.1_Splice_Site	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				METTL21B_ENST00000551420.1_Splice_Site|METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_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	9	152						9	152	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000545204.1_Intron			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_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000517852.1_Intron	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		15	556						15	556	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	322						12	322	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs		Somatic				UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		9	231						9	231	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(385-387)tttfs	p.F129fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(382-387)gattttfs		UTP20, small subunit (SSU) processome component, homolog (yeast)																																				SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680156_101680157insT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.392dupT	12.37:g.101680164_101680164dupT	ENSP00000261637:p.Phe129fs		Somatic					p.DF128fs	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			5	558_559	+			128					Q9H3H4	Frame_Shift_Ins	INS	ENST00000261637.4	37	c.384_385insT	CCDS9081.1																																																																																				0.396	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		10	1098						10	1098	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(328-330)cccfs	p.P110fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.P79fs|RNA5SP372_ENST00000390836.1_RNA	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	110	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(325-330)gaccccfs		ubiquitin specific peptidase 30																																				SO:0001589	frameshift_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495864_109495865insC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.333dupC	12.37:g.109495870_109495870dupC	ENSP00000257548:p.Pro110fs		Somatic				USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	p.DP109fs	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	Q70CQ3	UBP30_HUMAN			3	420_421	+			109					Q8WTU7|Q96JX4|Q9BSS3	Frame_Shift_Ins	INS	ENST00000257548.5	37	c.327_328insC	CCDS9123.2																																																																																				0.485	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		8	1148						8	1148	---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		8	862						8	862	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site			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_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_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	15	1193						15	1193	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113759072	113759073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:113759072_113759073insC	ENST00000552014.1	-	4	752_753	c.237_238insG	c.(235-240)gggtacfs	p.Y80fs	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Frame_Shift_Ins_p.Y80fs|SLC8B1_ENST00000202831.3_Frame_Shift_Ins_p.Y80fs			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	80					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)										TAGTCCAGGTACCCCCCATCAC	0.624																																						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.(235-240)ggacctfs																																						SO:0001589	frameshift_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113759072_113759073insC	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.238dupG	12.37:g.113759078_113759078dupC	ENSP00000447091:p.Tyr80fs		Somatic				SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs	p.P80fs			WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			4	752_753	-			80					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Frame_Shift_Ins	INS	ENST00000552014.1	37	c.237_238insG	CCDS31909.1																																																																																				0.624	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		10	1373						10	1373	---	---	---	---
SIRT4	23409	broad.mit.edu	37	12	120750293	120750294	+	Frame_Shift_Ins	INS	-	-	G	rs546233791	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:120750293_120750294insG	ENST00000202967.4	+	3	591_592	c.532_533insG	c.(532-534)cggfs	p.R178fs	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGACTCCCCGGGGGGTGCTG	0.579																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(532-534)gggfs		sirtuin 4																																				SO:0001589	frameshift_variant	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750293_120750294insG	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.538dupG	12.37:g.120750299_120750299dupG	ENSP00000202967:p.Arg178fs		Somatic				SIRT4_ENST00000537892.1_Intron	p.G178fs	NM_012240.2	NP_036372.1	WXS	Illumina GAIIx	Phase_I	Q9Y6E7	SIRT4_HUMAN			3	591_592	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		178			Deacetylase sirtuin-type.			Frame_Shift_Ins	INS	ENST00000202967.4	37	c.532_533insG	CCDS9194.1																																																																																				0.579	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		8	402						8	402	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		18	283						18	283	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46721051	46721052	+	Frame_Shift_Ins	INS	-	-	C	rs374226559		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:46721051_46721052insC	ENST00000398576.2	-	13	1553_1554	c.1165_1166insG	c.(1165-1167)gctfs	p.A389fs	LCP1_ENST00000323076.2_Frame_Shift_Ins_p.A389fs			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	389	Actin-binding 2.				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)	p.A389fs*16(1)		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)		ACCTTCAAGAGCCCCCCAGTCA	0.441			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		1	Deletion - Frameshift(1)	p.A389fs*16(1)	ovary(1)	breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1165-1167)tctfs		lymphocyte cytosolic protein 1 (L-plastin)																																				SO:0001589	frameshift_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46721051_46721052insC	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.1166dupG	13.37:g.46721057_46721057dupC	ENSP00000381581:p.Ala389fs		Somatic				LCP1_ENST00000323076.2_Frame_Shift_Ins_p.S389fs	p.S389fs			WXS	Illumina GAIIx	Phase_I	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	13	1553_1554	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	389			Actin-binding 2.		B2R613|B4DUA0|Q5TBN4	Frame_Shift_Ins	INS	ENST00000398576.2	37	c.1165_1166insG	CCDS9403.1																																																																																				0.441	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		11	480						11	480	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs193922103|rs137853287|rs587779354		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cccatgfs	p.M769fs	ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.M769fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.M41fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.M658fs|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD). {ECO:0000269|PubMed:10790207}.|M -> R (in WD).|M -> V (in WD). {ECO:0000269|PubMed:11690702}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACAAAGAGCATGGGGGGCGTGT	0.52									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CD982475|CI951903|CM992596	ATP7B	D|I|M		c.(2302-2307)cctgctfs		ATPase, Cu++ transporting, beta polypeptide																																				SO:0001589	frameshift_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52532497_52532498insG	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2305dupC	13.37:g.52532503_52532503dupG	ENSP00000242839:p.Met769fs		Somatic				ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000482841.1_Intron	p.A769fs	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	8	2460_2461	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	769		M -> I (in WD).|M -> R (in WD).|M -> V (in WD).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Ins	INS	ENST00000242839.4	37	c.2304_2305insC	CCDS41892.1																																																																																				0.520	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		9	980						9	980	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			7	807						7	807	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					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)	p.V1082fs*47(1)		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)		CAGCTGCCACACCCCCCCACTC	0.584																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	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.(3241-3243)ggtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852646_20852647insC		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.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs		Somatic				TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	p.G1081fs	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)	23	3282_3283	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.3242_3243insG	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		11	274						11	274	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			7	208						7	208	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74206196	74206197	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:74206196_74206197insC	ENST00000286523.5	-	2	1297_1298	c.515_516insG	c.(514-516)ggcfs	p.G172fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.G172fs|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCAGCTGTGGGCCCCCCGCTTT	0.614																																						ENST00000286523.5																			0											c.(514-516)gccfs		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001589	frameshift_variant	91748							g.chr14:74206196_74206197insC	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.516dupG	14.37:g.74206202_74206202dupC	ENSP00000286523:p.Gly172fs		Somatic				ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A172fs	p.A172fs	NM_194278.3	NP_919254.2	WXS	Illumina GAIIx	Phase_I					2	1297_1298	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Ins	INS	ENST00000286523.5	37	c.515_516insG	CCDS9819.1																																																																																				0.614	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	157						7	157	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:75248518_75248519insC	ENST00000552421.1	+	4	1896_1897	c.1772_1773insC	c.(1771-1776)ctccccfs	p.LP591fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.LP591fs			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)		CCACCAGTTCTCCCCCCACCTT	0.599																																						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.(1771-1773)cccfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248518_75248519insC	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.1778dupC	14.37:g.75248524_75248524dupC	ENSP00000447921:p.Leu591fs		Somatic				YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	p.P591fs	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	1896_1897	+			392					P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37	c.1772_1773insC																																																																																					0.599	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	335						10	335	---	---	---	---
IGHG4	3503	broad.mit.edu	37	14	106091519	106091520	+	RNA	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106091519_106091520insG	ENST00000390543.2	-	0	373_374							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m 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)										CCTTGGGTTTTGGGGGGAACAG	0.619																																						ENST00000390543.2																			0																																																			3503							g.chr14:106091519_106091520insG	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091525_106091525dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	373_374	-									RNA	INS	ENST00000390543.2	37																																																																																						0.619	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		7	372						7	372	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs139927975|rs113800876|rs367947132	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226									immunoglobulin heavy variable 4-39																		CCCAGTAGTAACTACTACTGCTG	0.596																																						ENST00000390619.2																			0																	1153,2423		29,1095,664						-0.6	0.0		dbSNP_134	58	1515,6297		125,1265,2516	no	intergenic				154,2360,3180	A1A1,A1R,RR		19.3932,32.2427,23.4282				2668,8720						28394							g.chr14:106877817_106877819delACT	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877823_106877825delACT			Somatic								WXS	Illumina GAIIx	Phase_I					0	224_226	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.596	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		36	96						36	96	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			40	1075						40	1075	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			11	578						11	578	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		15	465						15	465	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4566)ggccccfs	p.GP1521fs	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.GP1521fs|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.GP1167fs	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				CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|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	970						7	970	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64962624	64962625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:64962624_64962625insC	ENST00000326648.3	+	3	1181_1182	c.1053_1054insC	c.(1054-1056)cccfs	p.P352fs	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	352						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGATTGGGCACCCCCAAGGTA	0.416																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1051-1056)gcccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64962624_64962625insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1058dupC	15.37:g.64962629_64962629dupC	ENSP00000316527:p.Pro352fs		Somatic				ZNF609_ENST00000559364.1_3'UTR	p.AP351fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			3	1181_1182	+			351					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.1053_1054insC	CCDS32270.1																																																																																				0.416	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	394						7	394	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2941-2943)cccfs	p.P981fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	981						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.55																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2938-2943)gtccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967993_64967994insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2946dupC	15.37:g.64967999_64967999dupC	ENSP00000316527:p.Pro981fs		Somatic					p.VP980fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			4	3068_3069	+			980					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2940_2941insC	CCDS32270.1																																																																																				0.550	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		23	1485						23	1485	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4222-4224)cccfs	p.P1408fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1408						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.47											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4219-4224)ccccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64973566_64973567insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4227dupC	15.37:g.64973572_64973572dupC	ENSP00000316527:p.Pro1408fs		Somatic	OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080		p.PP1407fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			8	4349_4350	+			1407					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.4221_4222insC	CCDS32270.1																																																																																				0.470	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		11	904						11	904	---	---	---	---
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	lincRNA	INS	-	-	G	rs528488597	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	575						8	575	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	395						7	395	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC			Somatic								WXS	Illumina GAIIx	Phase_I					0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	3						4	3	---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358558	102358559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:102358558_102358559insC	ENST00000332238.4	+	1	193_194	c.169_170insC	c.(169-171)tccfs	p.S57fs		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	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(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCATCTGCACTCCCCCATGTAT	0.401																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(169-171)cccfs		olfactory receptor, family 4, subfamily F, member 15																																				SO:0001589	frameshift_variant	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358558_102358559insC	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.174dupC	15.37:g.102358563_102358563dupC	ENSP00000333184:p.Ser57fs		Somatic					p.P57fs	NM_001001674.1	NP_001001674.1	WXS	Illumina GAIIx	Phase_I	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	193_194	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		57					B2RNQ5|Q6IF57|Q96R70	Frame_Shift_Ins	INS	ENST00000332238.4	37	c.169_170insC	CCDS32342.1																																																																																				0.401	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		7	1872						7	1872	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2807545	2807546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:2807545_2807546insG	ENST00000301740.8	+	3	864_865	c.315_316insG	c.(316-318)gggfs	p.G106fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	106					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATGTGAACCCTGGGGGCAAGGA	0.559																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(313-318)ccggggfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2807545_2807546insG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.320dupG	16.37:g.2807550_2807550dupG	ENSP00000301740:p.Gly106fs		Somatic					p.PG105fs	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			3	864_865	+			105					A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.315_316insG	CCDS32373.1																																																																																				0.559	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			8	643						8	643	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs		Somatic					p.P1511fs	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			9	1114						9	1114	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			7	938						7	938	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16142119	16142120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:16142119_16142120insC	ENST00000399410.3	+	10	1514_1515	c.1339_1340insC	c.(1339-1341)gccfs	p.A447fs	ABCC1_ENST00000399408.2_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_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	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_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000399410.3_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		7	439						7	439	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000567288.1_5'UTR|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_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	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		16	388						16	388	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)cccaaafs	p.K3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6. {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)		CGGAGCCCTTTGGGGGGCTCAT	0.51																																						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.(10906-10911)ccaaggfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966297_20966298insG	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.10909dupC	16.37:g.20966303_20966303dupG	ENSP00000261383:p.Lys3637fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.R3637fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10907_10908	-			3637			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.10908_10909insC	CCDS10594.1																																																																																				0.510	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	362						8	362	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C	rs200740325	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1870-1872)cccfs	p.P624fs	POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P588fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P624fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	624					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1867-1872)ttccccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)																																				SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339833_22339834insC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1876dupC	16.37:g.22339840_22339840dupC	ENSP00000299853:p.Pro624fs		Somatic				POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs	p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	WXS	Illumina GAIIx	Phase_I	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2036_2037	+			623					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	ENST00000299853.5	37	c.1869_1870insC	CCDS10605.1																																																																																				0.574	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	218						7	218	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786|rs201055598		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			7	541						7	541	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs		Somatic				TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		24	273						24	273	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(853-858)ctccccfs		naked cuticle homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs		Somatic					p.LP285fs	NM_033119.4	NP_149110.1	WXS	Illumina GAIIx	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			9	129						9	129	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		23	1227						23	1227	---	---	---	---
AC012322.1	0	broad.mit.edu	37	16	64294575	64294575	+	lincRNA	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:64294575delA	ENST00000561657.1	-	0	584																											ACACACCGTTAAAAAAAAAAC	0.493																																						ENST00000561657.1																			0																																																			0							g.chr16:64294575delA																													16.37:g.64294575delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	584	-									RNA	DEL	ENST00000561657.1	37																																																																																						0.493	AC012322.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420578.1			15	497						15	497	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		8	180						8	180	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67572614	67572615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:67572614_67572615insC	ENST00000379312.3	+	3	277_278	c.156_157insC	c.(157-159)cccfs	p.P53fs	FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.P69fs|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.P49fs|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.P63fs|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000540839.3_Frame_Shift_Ins_p.P69fs	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	53						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCACGGAAGCCCCCCGCGCT	0.663																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(202-207)aaccccfs		family with sequence similarity 65, member A																																				SO:0001589	frameshift_variant	79567					cytoplasm	binding	g.chr16:67572614_67572615insC	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.162dupC	16.37:g.67572620_67572620dupC	ENSP00000368614:p.Pro53fs		Somatic				FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.NP68fs|FAM65A_ENST00000379312.3_Frame_Shift_Ins_p.NP52fs|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.NP48fs|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.NP62fs	p.NP68fs			WXS	Illumina GAIIx	Phase_I	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	4	424_425	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	52					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Frame_Shift_Ins	INS	ENST00000379312.3	37	c.204_205insC	CCDS54028.1																																																																																				0.663	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		7	204						7	204	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71668195	71668196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:71668195_71668196insG	ENST00000268485.3	+	3	739_740	c.695_696insG	c.(694-699)ttggggfs	p.LG232fs	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.G46fs|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	232	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)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCACCAGCTTGGGGGGCATTT	0.559																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(694-696)tggfs		MARVEL domain containing 3																																				SO:0001589	frameshift_variant	91862					integral to membrane		g.chr16:71668195_71668196insG	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.701dupG	16.37:g.71668201_71668201dupG	ENSP00000268485:p.Leu232fs		Somatic				MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs	p.W232fs	NM_052858.3	NP_443090.4	WXS	Illumina GAIIx	Phase_I	Q96A59	MALD3_HUMAN			3	739_740	+		Ovarian(137;0.125)	232			MARVEL.		A8K820|H3BQM5|Q96MJ4	Frame_Shift_Ins	INS	ENST00000268485.3	37	c.695_696insG	CCDS10904.1																																																																																				0.559	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		8	299						8	299	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs	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		7	344						7	344	---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74725194	74725195	+	Frame_Shift_Ins	INS	-	-	T	rs56247416	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:74725194_74725195insT	ENST00000308807.7	-	4	1165_1166	c.702_703insA	c.(700-705)aaactcfs	p.L235fs	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCAGCCTGGAGTTTTTTGAATA	0.436																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(700-705)aatccafs		mixed lineage kinase domain-like																																				SO:0001589	frameshift_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74725194_74725195insT	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.703dupA	16.37:g.74725200_74725200dupT	ENSP00000308351:p.Leu235fs		Somatic				MLKL_ENST00000306247.7_Intron	p.NP234fs	NM_152649.2	NP_689862.1	WXS	Illumina GAIIx	Phase_I	Q8NB16	MLKL_HUMAN			4	1165_1166	-			234			Protein kinase.			Frame_Shift_Ins	INS	ENST00000308807.7	37	c.702_703insA	CCDS32487.1																																																																																				0.436	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		9	778						9	778	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|PAFAH1B1_ENST00000572915.2_Intron	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		8	732						8	732	---	---	---	---
OR1A2	26189	broad.mit.edu	37	17	3100900	3100901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:3100900_3100901insT	ENST00000381951.1	+	1	88_89	c.88_89insT	c.(88-90)attfs	p.I30fs		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	30					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						CTTCTTTGTGATTTTTTTGTGC	0.401																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(88-90)tttfs		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.chr17:3100900_3100901insT	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.95dupT	17.37:g.3100907_3100907dupT	ENSP00000371377:p.Ile30fs		Somatic					p.F30fs	NM_012352.1	NP_036484.1	WXS	Illumina GAIIx	Phase_I	Q9Y585	OR1A2_HUMAN			1	88_89	+			30					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Frame_Shift_Ins	INS	ENST00000381951.1	37	c.88_89insT	CCDS11021.1																																																																																				0.401	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		7	650						7	650	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:3844781_3844782insG	ENST00000352011.3	-	13	1766_1767	c.1712_1713insC	c.(1711-1713)ccafs	p.P571fs	ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.P571fs			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1711-1713)cagfs		ATPase, Ca++ transporting, ubiquitous																																				SO:0001589	frameshift_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844781_3844782insG		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1713dupC	17.37:g.3844786_3844786dupG	ENSP00000301387:p.Pro571fs		Somatic				ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs	p.Q571fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	WXS	Illumina GAIIx	Phase_I	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1862_1863	-			571					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Frame_Shift_Ins	INS	ENST00000352011.3	37	c.1712_1713insC	CCDS11041.1																																																																																				0.649	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		9	467						9	467	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					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						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(691-696)ggttggfs		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.chr17:4884523_4884524insC	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.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		Somatic	OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs	p.W232fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		8	982						8	982	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs		Somatic				RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron	p.P298fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			12	1418						12	1418	---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7402718	7402719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:7402718_7402719insC	ENST00000322644.6	+	10	1978_1979	c.1579_1580insC	c.(1579-1581)accfs	p.T527fs	POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.T527fs	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	527					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)				CATGATTGTCACCCCCCAGAGC	0.564																																						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.(1579-1581)cccfs		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa																																				SO:0001589	frameshift_variant	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.chr17:7402718_7402719insC			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.1585dupC	17.37:g.7402724_7402724dupC	ENSP00000314949:p.Thr527fs		Somatic				POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.P527fs	p.P527fs	NM_000937.4	NP_000928.1	WXS	Illumina GAIIx	Phase_I	P24928	RPB1_HUMAN			10	1978_1979	+		Prostate(122;0.173)	527					A6NN93|B9EH88|Q6NX41	Frame_Shift_Ins	INS	ENST00000322644.6	37	c.1579_1580insC	CCDS32548.1																																																																																				0.564	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		8	212						8	212	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798764_7798765insC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs		Somatic				CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		48	683						48	683	---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19459097	19459098	+	Intron	INS	-	-	C	rs373281364		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:19459097_19459098insC	ENST00000270570.4	+	9	825				SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000571335.1_Frame_Shift_Ins_p.VP48fs	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_ENST00000457293.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_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		8	153						8	153	---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26817513	26817514	+	Frame_Shift_Ins	INS	-	-	G	rs201097963		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:26817513_26817514insG	ENST00000314669.5	+	3	693_694	c.273_274insG	c.(274-276)gggfs	p.G92fs	SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.G21fs|SLC13A2_ENST00000444914.3_Frame_Shift_Ins_p.G141fs|SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.G49fs	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_ENST00000537681.1_Frame_Shift_Ins_p.LG20fs|SLC13A2_ENST00000314669.5_Frame_Shift_Ins_p.LG91fs|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		7	324						7	324	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cgafs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959374_27959375insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs		Somatic				SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	p.R919fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		26	862						26	862	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs		Somatic				RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	p.R264fs	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		10	348						10	348	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)cggfs	p.R528fs	TAF15_ENST00000311979.3_Frame_Shift_Ins_p.R525fs|TAF15_ENST00000592237.1_Splice_Site_p.G333fs	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		7	118						7	118	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)cagfs	p.Q521fs	HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.Q495fs	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		9	224						9	224	---	---	---	---
RAB5C	5878	broad.mit.edu	37	17	40280704	40280705	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:40280704_40280705insC	ENST00000346213.4	-	3	492_493	c.280_281insG	c.(280-282)gccfs	p.A94fs	RAB5C_ENST00000393860.3_Frame_Shift_Ins_p.A94fs|CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.A94fs|RAB5C_ENST00000547517.1_Frame_Shift_Ins_p.A127fs	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	94					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGCAGCCTGGGCCCCCCGATAG	0.53																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(280-282)ccafs		RAB5C, member RAS oncogene family																																				SO:0001589	frameshift_variant	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280704_40280705insC	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.281dupG	17.37:g.40280710_40280710dupC	ENSP00000345689:p.Ala94fs		Somatic				RAB5C_ENST00000547517.1_Frame_Shift_Ins_p.P127fs|CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.P94fs|RAB5C_ENST00000346213.4_Frame_Shift_Ins_p.P94fs	p.P94fs	NM_201434.2	NP_958842.1	WXS	Illumina GAIIx	Phase_I	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	4	596_597	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	94					F8W1H5|Q6FH55|Q9P0Y5	Frame_Shift_Ins	INS	ENST00000346213.4	37	c.280_281insG	CCDS11419.1																																																																																				0.530	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		8	478						8	478	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					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)		AGGCAGCGAGACCCCCCCACGG	0.604																																					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.(640-645)ggctcgfs		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.chr17:40328258_40328259insC	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.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs		Somatic				KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		16	581						16	581	---	---	---	---
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C	rs375354059		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(691-693)cccfs	p.P231fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.P231fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	231					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)		GGAGTCAGAGTCCCCCCAAAGA	0.569																																					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.(688-693)agccccfs		DEAH (Asp-Glu-Ala-His) box polypeptide 8																																				SO:0001589	frameshift_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41570235_41570236insC	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.696dupC	17.37:g.41570241_41570241dupC	ENSP00000262415:p.Pro231fs		Somatic				DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	p.SP230fs	NM_004941.1	NP_004932.1	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	6	762_763	+		Breast(137;0.00908)	230						Frame_Shift_Ins	INS	ENST00000262415.3	37	c.690_691insC	CCDS11464.1																																																																																				0.569	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			8	380						8	380	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		12	590						12	590	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994141	45994142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:45994141_45994142insC	ENST00000376741.4	+	3	841_842	c.704_705insC	c.(703-708)agccccfs	p.SP235fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_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_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_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	392						8	392	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994349	45994350	+	Frame_Shift_Ins	INS	-	-	C	rs142857959|rs148511412		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:45994349_45994350insC	ENST00000376741.4	+	3	1049_1050	c.912_913insC	c.(913-915)cccfs	p.P305fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	305					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						TCCAGGTGGTGCCCCCCAAGGC	0.649																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(910-915)gtccccfs		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.chr17:45994349_45994350insC		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.918dupC	17.37:g.45994355_45994355dupC	ENSP00000365931:p.Pro305fs		Somatic				AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	p.VP304fs	NM_003110.5	NP_003101.3	WXS	Illumina GAIIx	Phase_I	Q02086	SP2_HUMAN			3	1049_1050	+			304					A6NK74	Frame_Shift_Ins	INS	ENST00000376741.4	37	c.912_913insC	CCDS11521.2																																																																																				0.649	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		7	260						7	260	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000451037.2_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_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	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		18	1235						18	1235	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		7	269						7	269	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63221351	63221352	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:63221351_63221352insC	ENST00000262406.9	+	18	1706_1707	c.1639_1640insC	c.(1639-1641)gccfs	p.A547fs	RGS9_ENST00000449996.3_Frame_Shift_Ins_p.A544fs|RGS9_ENST00000443584.3_Frame_Shift_Ins_p.A544fs	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	547				GSMAPR -> WSGANP (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGGGTCCATGGCCCCCCGTGGG	0.693																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1630-1632)cccfs		regulator of G-protein signaling 9																																				SO:0001589	frameshift_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221351_63221352insC	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1645dupC	17.37:g.63221357_63221357dupC	ENSP00000262406:p.Ala547fs		Somatic				RGS9_ENST00000262406.9_Frame_Shift_Ins_p.P547fs|RGS9_ENST00000443584.3_Frame_Shift_Ins_p.P544fs	p.P544fs	NM_001081955.2	NP_001075424.1	WXS	Illumina GAIIx	Phase_I	O75916	RGS9_HUMAN			18	1702_1703	+			547	GSMAPR -> WSGANP (in Ref. 7; AAC25430).				A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Frame_Shift_Ins	INS	ENST00000262406.9	37	c.1630_1631insC	CCDS42373.1																																																																																				0.693	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		8	345						8	345	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		14	958						14	958	---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79517945	79517946	+	Frame_Shift_Ins	INS	-	-	G	rs149308791		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:79517945_79517946insG	ENST00000327787.8	-	3	620_621	c.574_575insC	c.(574-576)cacfs	p.H192fs	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Frame_Shift_Ins_p.H41fs			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	192					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGGAAGGAAGTGGGGGGCTGCA	0.693																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(121-123)cttfs		chromosome 17 open reading frame 70																																				SO:0001589	frameshift_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517945_79517946insG	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.575dupC	17.37:g.79517951_79517951dupG	ENSP00000333283:p.His192fs		Somatic				C17orf70_ENST00000327787.8_Frame_Shift_Ins_p.L192fs	p.L41fs	NM_025161.5	NP_079437.5	WXS	Illumina GAIIx	Phase_I	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	646_647	-	all_neural(118;0.0878)|Melanoma(429;0.242)		192					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Ins	INS	ENST00000327787.8	37	c.121_122insC	CCDS32765.2																																																																																				0.693	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		2	4						2	4	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13113612	13113613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr18:13113612_13113613insG	ENST00000325971.8	+	39	6880_6881	c.5287_5288insG	c.(5287-5289)aggfs	p.R1763fs	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Frame_Shift_Ins_p.R2359fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.R1884fs			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1763					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCCAGAGGTAGGGGGGATTAT	0.426																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7075-7077)gggfs		centrosomal protein 192kDa																																				SO:0001589	frameshift_variant	55125							g.chr18:13113612_13113613insG	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5293dupG	18.37:g.13113618_13113618dupG	ENSP00000317156:p.Arg1763fs		Somatic				CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs	p.G2359fs	NM_032142.3	NP_115518.3	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			41	7155_7156	+			1954					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Frame_Shift_Ins	INS	ENST00000325971.8	37	c.7075_7076insG																																																																																					0.426	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	344						8	344	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22804477	22804478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr18:22804477_22804478insC	ENST00000361524.3	-	4	3552_3553	c.3404_3405insG	c.(3403-3405)ggafs	p.G1135fs	ZNF521_ENST00000584787.1_Frame_Shift_Ins_p.G915fs|ZNF521_ENST00000538137.2_Frame_Shift_Ins_p.G1135fs	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1135					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTCTTCAGTCCCCCCACCTT	0.554			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3403-3405)gctfs		zinc finger protein 521																																				SO:0001589	frameshift_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804477_22804478insC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3405dupG	18.37:g.22804483_22804483dupC	ENSP00000354794:p.Gly1135fs		Somatic				ZNF521_ENST00000538137.2_Frame_Shift_Ins_p.A1135fs|ZNF521_ENST00000584787.1_Frame_Shift_Ins_p.A915fs	p.A1135fs	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	Q96K83	ZN521_HUMAN			4	3552_3553	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1135					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Frame_Shift_Ins	INS	ENST00000361524.3	37	c.3404_3405insG	CCDS32806.1																																																																																				0.554	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		7	220						7	220	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8196624	8196625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:8196624_8196625insC	ENST00000600128.1	-	15	2217_2218	c.1803_1804insG	c.(1801-1806)gggctgfs	p.L602fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.L602fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.L602fs			Q75N90	FBN3_HUMAN	fibrillin 3	602	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGGC	0.678																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1801-1806)ggtggcfs		fibrillin 3																																				SO:0001589	frameshift_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196624_8196625insC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1804dupG	19.37:g.8196631_8196631dupC	ENSP00000470498:p.Leu602fs		Somatic				FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs	p.G602fs			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			15	2217_2218	-			602			EGF-like 7; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	ENST00000600128.1	37	c.1803_1804insG	CCDS12196.1																																																																																				0.678	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		9	101						9	101	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		8	472						8	472	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		8	846						8	846	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		Somatic				DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		10	176						10	176	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		Somatic	OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	WXS	Illumina GAIIx	Phase_I	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			20	1315						20	1315	---	---	---	---
ELAVL3	1995	broad.mit.edu	37	19	11565611	11565612	+	Frame_Shift_Ins	INS	-	-	C	rs541416829	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:11565611_11565612insC	ENST00000359227.3	-	7	1257_1258	c.833_834insG	c.(832-834)ggcfs	p.G278fs	ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G271fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	278					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						cgcccgccgcgccccccgACAG	0.678																																						ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(832-834)ggcfs		ELAV like neuron-specific RNA binding protein 3																																				SO:0001589	frameshift_variant	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11565611_11565612insC		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.834dupG	19.37:g.11565617_11565617dupC	ENSP00000352162:p.Gly278fs		Somatic				ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G271fs	p.G278fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	WXS	Illumina GAIIx	Phase_I	Q14576	ELAV3_HUMAN			7	1257_1258	-			278					Q16135|Q96CL8|Q96QS9	Frame_Shift_Ins	INS	ENST00000359227.3	37	c.833_834insG	CCDS32912.1																																																																																				0.678	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		7	220						7	220	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:12155624_12155625insT	ENST00000547628.1	-	4	728_729	c.591_592insA	c.(589-594)aaacccfs	p.P198fs	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P245fs|CTD-2006C1.2_ENST00000591838.1_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-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	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		18	758						18	758	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T	rs375738139		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:12155708_12155709insT	ENST00000547628.1	-	4	644_645	c.507_508insA	c.(505-510)aaacccfs	p.P170fs	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P217fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(646-651)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155708_12155709insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.508dupA	19.37:g.12155715_12155715dupT	ENSP00000447931:p.Pro170fs		Somatic				CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.NL216fs			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	647_648	-			169						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.648_649insA	CCDS45984.2																																																																																				0.411	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		11	712						11	712	---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13008600	13008601	+	Frame_Shift_Ins	INS	-	-	G	rs398123191		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:13008600_13008601insG	ENST00000222214.5	+	11	1377_1378	c.1166_1167insG	c.(1165-1170)ctggggfs	p.LG389fs	GCDH_ENST00000457854.1_Frame_Shift_Ins_p.LG389fs|GCDH_ENST00000422947.2_Frame_Shift_Ins_p.LG345fs|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_ENST00000457854.1_Frame_Shift_Ins_p.R389fs|GCDH_ENST00000422947.2_Frame_Shift_Ins_p.R345fs|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			8	188						8	188	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)ccafs	p.P33fs	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.P33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.P33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(97-99)caafs		egf-like module containing, mucin-like, hormone receptor-like 3																																				SO:0001589	frameshift_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14774330_14774331insG	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.99dupC	19.37:g.14774336_14774336dupG	ENSP00000253673:p.Pro33fs		Somatic				EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs	p.Q33fs	NM_032571.3	NP_115960.2	WXS	Illumina GAIIx	Phase_I	Q9BY15	EMR3_HUMAN			3	198_199	-			33			EGF-like 1.			Frame_Shift_Ins	INS	ENST00000253673.5	37	c.98_99insC	CCDS12315.1																																																																																				0.485	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		10	291						10	291	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		10	395						10	395	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20027414	20027415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:20027414_20027415insA	ENST00000343769.5	+	3	204_205	c.176_177insA	c.(175-180)ggaaaafs	p.GK59fs	AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.GK59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.GK59fs	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	59	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)|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						CTGGAGCAAGGAAAAAAACCTT	0.406																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(175-177)gaafs		zinc finger protein 93																																				SO:0001589	frameshift_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20027414_20027415insA	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.183dupA	19.37:g.20027421_20027421dupA	ENSP00000342002:p.Gly59fs		Somatic				ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.E59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.E59fs|AC007204.2_ENST00000592245.1_lincRNA	p.E59fs	NM_031218.3	NP_112495.2	WXS	Illumina GAIIx	Phase_I	P35789	ZNF93_HUMAN			3	204_205	+			59			KRAB.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Frame_Shift_Ins	INS	ENST00000343769.5	37	c.176_177insA	CCDS32973.1																																																																																				0.406	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		8	331						8	331	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		21	432						21	432	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G	rs201411926		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:34887281_34887282insG	ENST00000356487.5	+	13	1379_1380	c.1138_1139insG	c.(1138-1140)tggfs	p.W380fs	GPI_ENST00000586425.1_Frame_Shift_Ins_p.W380fs|GPI_ENST00000415930.3_Frame_Shift_Ins_p.W391fs	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_ENST00000356487.5_Frame_Shift_Ins_p.G380fs|GPI_ENST00000586425.1_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			7	143						7	143	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40320998	40320999	+	Intron	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:40320998_40320999insG	ENST00000593685.1	-	4	841				DYRK1B_ENST00000601972.1_Frame_Shift_Ins_p.H130fs|DYRK1B_ENST00000323039.5_Intron|DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000348817.3_Intron			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B						adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ATCAGGGTGGTGGGGGGTGTCC	0.584																																						ENST00000601972.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(388-390)ccafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B																																				SO:0001627	intron_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40320998_40320999insG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.372+15->C	19.37:g.40321004_40321004dupG			Somatic				DYRK1B_ENST00000593685.1_Intron|DYRK1B_ENST00000323039.5_Intron|DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000348817.3_Intron	p.P130fs			WXS	Illumina GAIIx	Phase_I	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		4	618_619	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		578			Protein kinase.		O75258|O75788|O75789	Frame_Shift_Ins	INS	ENST00000593685.1	37	c.388_389insC	CCDS12543.1																																																																																				0.584	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		7	371						7	371	---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:40480653_40480654insC	ENST00000157812.2	+	6	789_790	c.591_592insC	c.(592-594)cccfs	p.P198fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.P167fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	198					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(589-594)gaccccfs		proteasome (prosome, macropain) 26S subunit, ATPase, 4																																				SO:0001589	frameshift_variant	5704				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480653_40480654insC	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.598dupC	19.37:g.40480660_40480660dupC	ENSP00000157812:p.Pro198fs		Somatic				PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.DP166fs	p.DP197fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	WXS	Illumina GAIIx	Phase_I	P43686	PRS6B_HUMAN			6	789_790	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		197					Q96FV5|Q9UBM3|Q9UEX3	Frame_Shift_Ins	INS	ENST00000157812.2	37	c.591_592insC	CCDS12547.1																																																																																				0.614	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		7	172						7	172	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		10	1354						10	1354	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG			Somatic				POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site	p.D84fs			WXS	Illumina GAIIx	Phase_I	P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	27	368						27	368	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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	395						13	395	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		30	1394						30	1394	---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44284860	44284861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:44284860_44284861insC	ENST00000262888.3	-	1	548_549	c.153_154insG	c.(151-156)gggtgcfs	p.C52fs		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	52					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CTCACCGAGCACCCCCCGAACC	0.653																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(151-156)gggctcfs		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)																																			SO:0001589	frameshift_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44284860_44284861insC	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.154dupG	19.37:g.44284866_44284866dupC	ENSP00000262888:p.Cys52fs		Somatic					p.L52fs	NM_002250.2	NP_002241.1	WXS	Illumina GAIIx	Phase_I	O15554	KCNN4_HUMAN			1	548_549	-		Prostate(69;0.0352)	52					Q53XR4	Frame_Shift_Ins	INS	ENST00000262888.3	37	c.153_154insG	CCDS12630.1																																																																																				0.653	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		12	469						12	469	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)cccaccfs	p.T743fs	SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.T206fs|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			9	474						9	474	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		22	316						22	316	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)accfs	p.T224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCAGCCCAGACCCCCCCTTAC	0.703																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(670-672)cccfs		proline rich 12																																				SO:0001589	frameshift_variant	57479						DNA binding	g.chr19:50098262_50098263insC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.677dupC	19.37:g.50098269_50098269dupC	ENSP00000394510:p.Thr224fs		Somatic					p.P224fs	NM_020719.1	NP_065770.1	WXS	Illumina GAIIx	Phase_I	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	682_683	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	4			Pro-rich.		E9PB06|Q8N4J6	Frame_Shift_Ins	INS	ENST00000418929.2	37	c.670_671insC	CCDS46143.1																																																																																				0.703	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		2	4						2	4	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		20	583						20	583	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		11	721						11	721	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs		Somatic				ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	WXS	Illumina GAIIx	Phase_I	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		8	618						8	618	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)gatfs	p.D459fs	ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.D431fs|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000412216.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000301399.5_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.45																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1375-1377)ttcfs		zinc finger protein 649																																				SO:0001589	frameshift_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394013_52394014insC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1376dupG	19.37:g.52394019_52394019dupC	ENSP00000347043:p.Asp459fs		Somatic				CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs	p.F459fs	NM_023074.3	NP_075562.2	WXS	Illumina GAIIx	Phase_I	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1659_1660	-		all_neural(266;0.0602)	459					A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Ins	INS	ENST00000354957.3	37	c.1375_1376insG	CCDS12843.1																																																																																				0.450	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		14	992						14	992	---	---	---	---
DEFB132	400830	broad.mit.edu	37	20	239780	239781	+	Frame_Shift_Ins	INS	-	-	G	rs138201035	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:239780_239781insG	ENST00000382376.3	+	2	164_165	c.121_122insG	c.(121-123)tggfs	p.W41fs		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	41					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTTGCCACTGGGGGGAGACA	0.525																																						ENST00000382376.3																			0				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(121-123)gggfs		defensin, beta 132																																				SO:0001589	frameshift_variant	400830				defense response to bacterium	extracellular region		g.chr20:239780_239781insG	AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"""Defensins, beta"""	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.127dupG	20.37:g.239786_239786dupG	ENSP00000371813:p.Trp41fs		Somatic					p.G41fs	NM_207469.2	NP_997352.1	WXS	Illumina GAIIx	Phase_I	Q7Z7B7	DB132_HUMAN			2	164_165	+			41					B2RP72|Q4QY40	Frame_Shift_Ins	INS	ENST00000382376.3	37	c.121_122insG	CCDS12993.1																																																																																				0.525	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	NM_207469		15	397						15	397	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C	rs371156741		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)gggcccfs	p.P424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.P373fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	424																	TGCCTGCAGGGCCCCCCCATTC	0.624																																						ENST00000360652.2																			0											c.(1267-1272)ggcctgfs		PC-esterase domain containing 1A																																				SO:0001589	frameshift_variant	64773							g.chr20:2816203_2816204insC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1270dupG	20.37:g.2816210_2816210dupC	ENSP00000353868:p.Pro424fs		Somatic				PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	p.L424fs	NM_022760.3	NP_073597.2	WXS	Illumina GAIIx	Phase_I					8	1771_1772	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Ins	INS	ENST00000360652.2	37	c.1269_1270insG	CCDS13035.1																																																																																				0.624	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		10	295						10	295	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs		Somatic				UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	p.GP572fs	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		13	264						13	264	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141.0	152.0	148.0					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs		Somatic				PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	WXS	Illumina GAIIx	Phase_I	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		9	812						9	812	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_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_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_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	202						9	202	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10620244	10620245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:10620244_10620245insG	ENST00000254958.5	-	26	4073_4074	c.3558_3559insC	c.(3556-3561)cccaacfs	p.N1187fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.N1028fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1187					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCCGTTGGGGGGCTTCT	0.515									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3556-3561)ccacggfs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620244_10620245insG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3559dupC	20.37:g.10620250_10620250dupG	ENSP00000254958:p.Asn1187fs		Somatic				JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R1028fs	p.R1187fs	NM_000214.2	NP_000205.1	WXS	Illumina GAIIx	Phase_I	P78504	JAG1_HUMAN			26	4073_4074	-			1187					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Ins	INS	ENST00000254958.5	37	c.3558_3559insC	CCDS13112.1																																																																																				0.515	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		7	639						7	639	---	---	---	---
SLC24A3	57419	broad.mit.edu	37	20	19664932	19664933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:19664932_19664933insC	ENST00000328041.6	+	11	1211_1212	c.1014_1015insC	c.(1015-1017)cccfs	p.P339fs		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	339					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCAGCCACTTTCCCCCCAAGAC	0.559																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1012-1017)ttccccfs		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3																																				SO:0001589	frameshift_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19664932_19664933insC	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1020dupC	20.37:g.19664938_19664938dupC	ENSP00000333519:p.Pro339fs		Somatic					p.FP338fs	NM_020689.3	NP_065740.2	WXS	Illumina GAIIx	Phase_I	Q9HC58	NCKX3_HUMAN			11	1211_1212	+			338					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Frame_Shift_Ins	INS	ENST00000328041.6	37	c.1014_1015insC	CCDS13140.1																																																																																				0.559	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		8	295						8	295	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		Somatic				TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		9	218						9	218	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30789951	30789952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:30789951_30789952insG	ENST00000246229.4	-	2	294_295	c.30_31insC	c.(28-33)ccctggfs	p.W11fs		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	11					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACGC	0.559																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(28-33)ccggatfs		pleiomorphic adenoma gene-like 2																																				SO:0001589	frameshift_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30789951_30789952insG		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.31dupC	20.37:g.30789958_30789958dupG	ENSP00000246229:p.Trp11fs		Somatic					p.D11fs	NM_002657.3	NP_002648.1	WXS	Illumina GAIIx	Phase_I	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	294_295	-			11					A8K8T5|E1P5M3|Q92584	Frame_Shift_Ins	INS	ENST00000246229.4	37	c.30_31insC	CCDS13197.1																																																																																				0.559	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		7	353						7	353	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				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 on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		14	355						14	355	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)cctfs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCACATGAGGGGGGACCAT	0.5																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2491-2493)ccafs		nuclear receptor coactivator 6																																				SO:0001589	frameshift_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337505_33337506insG	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2493dupC	20.37:g.33337511_33337511dupG	ENSP00000363929:p.Pro831fs		Somatic				NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs	p.P831fs			WXS	Illumina GAIIx	Phase_I	Q14686	NCOA6_HUMAN			10	5062_5063	-			831			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Ins	INS	ENST00000374796.2	37	c.2492_2493insC	CCDS13241.1																																																																																				0.500	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	947						7	947	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR	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		16	1801						16	1801	---	---	---	---
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1609-1611)cccfs	p.P537fs	RPN2_ENST00000470352.1_Intron|RPN2_ENST00000373622.5_Frame_Shift_Ins_p.P505fs	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	537					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1606-1611)agccccfs		ribophorin II																																				SO:0001589	frameshift_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35860725_35860726insC	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1614dupC	20.37:g.35860731_35860731dupC	ENSP00000237530:p.Pro537fs		Somatic				RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	p.SP536fs	NM_002951.3	NP_002942.2	WXS	Illumina GAIIx	Phase_I	P04844	RPN2_HUMAN			14	1919_1920	+		Myeloproliferative disorder(115;0.00878)	536					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Frame_Shift_Ins	INS	ENST00000237530.6	37	c.1608_1609insC	CCDS13291.1																																																																																				0.574	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		10	1105						10	1105	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39798133	39798134	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:39798133_39798134insG	ENST00000373271.1	+	23	3022_3023	c.2617_2618insG	c.(2617-2619)cggfs	p.R873fs	PLCG1_ENST00000373272.2_Frame_Shift_Ins_p.R873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.R873fs	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	873					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.R873Q(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGACTTGCTGCGGGGGGTCTTG	0.54																																						ENST00000373272.2																			1	Substitution - Missense(1)	p.R873Q(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2617-2619)gggfs		phospholipase C, gamma 1																																				SO:0001589	frameshift_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39798133_39798134insG	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2623dupG	20.37:g.39798139_39798139dupG	ENSP00000362368:p.Arg873fs		Somatic				PLCG1_ENST00000373271.1_Frame_Shift_Ins_p.G873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.G873fs	p.G873fs	NM_002660.2	NP_002651.2	WXS	Illumina GAIIx	Phase_I	P19174	PLCG1_HUMAN			23	3022_3023	+		Myeloproliferative disorder(115;0.00878)	873					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Frame_Shift_Ins	INS	ENST00000373271.1	37	c.2617_2618insG	CCDS13314.1																																																																																				0.540	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		7	450						7	450	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		13	362						13	362	---	---	---	---
MYBL2	4605	broad.mit.edu	37	20	42344628	42344629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:42344628_42344629insG	ENST00000217026.4	+	14	2131_2132	c.2004_2005insG	c.(2005-2007)gggfs	p.G669fs	MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.G645fs	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	669					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G669W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGTGGCCTGCGGGGGGACCAG	0.624																																						ENST00000217026.4																			1	Substitution - Missense(1)	p.G669W(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(2002-2007)tgggggfs		v-myb avian myeloblastosis viral oncogene homolog-like 2																																				SO:0001589	frameshift_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42344628_42344629insG		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.2010dupG	20.37:g.42344634_42344634dupG	ENSP00000217026:p.Gly669fs		Somatic				MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.WG644fs	p.WG668fs	NM_002466.2	NP_002457.1	WXS	Illumina GAIIx	Phase_I	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	2131_2132	+		Myeloproliferative disorder(115;0.00452)	668					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Frame_Shift_Ins	INS	ENST00000217026.4	37	c.2004_2005insG	CCDS13322.1																																																																																				0.624	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		8	715						8	715	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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			30	593						30	593	---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-270)tgccccfs	p.CP89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.CP89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.CP89fs	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(265-267)tccfs		recombination signal binding protein for immunoglobulin kappa J region-like																																				SO:0001589	frameshift_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940237_43940238insC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.272dupC	20.37:g.43940243_43940243dupC	ENSP00000341243:p.Cys89fs		Somatic	OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	p.S89fs	NM_014276.2	NP_055091.2	WXS	Illumina GAIIx	Phase_I	Q9UBG7	RBPJL_HUMAN			4	338_339	+		Myeloproliferative disorder(115;0.0122)	89					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Frame_Shift_Ins	INS	ENST00000343694.3	37	c.266_267insC	CCDS13349.1																																																																																				0.604	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		9	393						9	393	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs		Somatic				SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			14	865						14	865	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50140530	50140531	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:50140530_50140531insG	ENST00000396009.3	-	2	468_469	c.249_250insC	c.(247-252)cccggcfs	p.G84fs	NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.G64fs|NFATC2_ENST00000371564.3_Frame_Shift_Ins_p.G84fs|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Frame_Shift_Ins_p.G64fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	84					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCGAATCGGCCGGGGGGCTCGC	0.663																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(247-252)ccgccgfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2																																				SO:0001589	frameshift_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140530_50140531insG	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.250dupC	20.37:g.50140536_50140536dupG	ENSP00000379330:p.Gly84fs		Somatic				NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.P64fs|NFATC2_ENST00000396009.3_Frame_Shift_Ins_p.P84fs	p.P84fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	WXS	Illumina GAIIx	Phase_I	Q13469	NFAC2_HUMAN			2	468_469	-	Hepatocellular(150;0.248)		84					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Ins	INS	ENST00000396009.3	37	c.249_250insC	CCDS13437.1																																																																																				0.663	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		8	304						8	304	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)ccgfs	p.P247fs	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(739-741)catfs		ATPase, class II, type 9A																																				SO:0001589	frameshift_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50305661_50305662insG	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.741dupC	20.37:g.50305667_50305667dupG	ENSP00000342481:p.Pro247fs		Somatic				ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.H247fs	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			9	1004_1005	-			247					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Frame_Shift_Ins	INS	ENST00000338821.5	37	c.740_741insC	CCDS33489.1																																																																																				0.564	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		11	670						11	670	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs		Somatic				ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		7	197						7	197	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C	rs375410323		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:57478756_57478757insC	ENST00000371085.3	+	5	766_767	c.342_343insC	c.(343-345)cccfs	p.P115fs	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.P100fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.P744fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371100.4_Frame_Shift_Ins_p.P758fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.P116fs	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	115			P -> L (in AHO). {ECO:0000269|PubMed:11600516}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		2	Insertion - Frameshift(2)	p.V760fs*23(1)|p.V117fs*23(1)	haematopoietic_and_lymphoid_tissue(2)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	GRCh37	CM980947	GNAS	M		c.(2269-2274)gtccccfs		GNAS complex locus																																				SO:0001589	frameshift_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57478756_57478757insC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.348dupC	20.37:g.57478762_57478762dupC	ENSP00000360126:p.Pro115fs	TSP Lung(22;0.16)	Somatic				GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR	p.VP757fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		5	2823_2824	+	all_lung(29;0.0104)		114					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Ins	INS	ENST00000371085.3	37	c.2271_2272insC	CCDS13472.1																																																																																				0.559	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		8	446						8	446	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	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		17	394						17	394	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62378319	62378320	+	Frame_Shift_Ins	INS	-	-	G	rs536518455		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:62378319_62378320insG	ENST00000245663.4	-	5	1883_1884	c.1733_1734insC	c.(1732-1734)ccafs	p.P578fs	RP4-583P15.10_ENST00000447343.2_RNA|ZBTB46_ENST00000302995.2_Frame_Shift_Ins_p.P578fs|ZBTB46_ENST00000395104.1_Frame_Shift_Ins_p.P578fs|RP4-583P15.10_ENST00000433905.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	578					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|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)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGGGCCTCCTGGGGGGCTGCG	0.723																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1732-1734)cggfs		zinc finger and BTB domain containing 46																																				SO:0001589	frameshift_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62378319_62378320insG	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1734dupC	20.37:g.62378325_62378325dupG	ENSP00000245663:p.Pro578fs		Somatic				ZBTB46_ENST00000395104.1_Frame_Shift_Ins_p.R578fs|ZBTB46_ENST00000302995.2_Frame_Shift_Ins_p.R578fs	p.R578fs	NM_025224.3	NP_079500.2	WXS	Illumina GAIIx	Phase_I	Q86UZ6	ZBT46_HUMAN			5	1883_1884	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		578					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Frame_Shift_Ins	INS	ENST00000245663.4	37	c.1733_1734insC	CCDS13538.1																																																																																				0.723	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		2	4						2	4	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		10	396						10	396	---	---	---	---
RSPH1	89765	broad.mit.edu	37	21	43913175	43913176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr21:43913175_43913176insC	ENST00000291536.3	-	2	235_236	c.68_69insG	c.(67-69)ggtfs	p.G23fs	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	23					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTCATTCCGACCCCCCTCATA	0.5																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(67-69)gcgfs		radial spoke head 1 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	89765				meiosis	cytosol|nucleus		g.chr21:43913175_43913176insC	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.69dupG	21.37:g.43913181_43913181dupC	ENSP00000291536:p.Gly23fs		Somatic				RSPH1_ENST00000398352.3_Intron	p.A23fs	NM_080860.2	NP_543136.1	WXS	Illumina GAIIx	Phase_I	Q8WYR4	RSPH1_HUMAN			2	235_236	-			23					A8MWV0|B2RBN9|Q3MJA1	Frame_Shift_Ins	INS	ENST00000291536.3	37	c.68_69insG	CCDS13688.1																																																																																				0.500	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			8	614						8	614	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.R1760fs|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				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)					AACAGGAAGCCGGGGGGGCGTC	0.525																																						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.(5278-5280)gctfs		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.chr21:47663396_47663397insG	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.5279dupC	21.37:g.47663403_47663403dupG	ENSP00000380820:p.Arg1760fs		Somatic				MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000414659.1_RNA	p.A1760fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			25	5532_5533	-	Breast(49;0.112)		1760					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.5278_5279insC	CCDS13734.1																																																																																				0.525	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		10	295						10	295	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs		Somatic				CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	p.A797fs	NM_031413.3	NP_113601.2	WXS	Illumina GAIIx	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	276						9	276	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs	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|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000466162.1_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		9	508						9	508	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				AC002472.11_ENST00000450652.1_RNA|AC002472.13_ENST00000543388.1_5'Flank|P2RX6P_ENST00000439119.1_RNA																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered		Somatic						NR_002829.1		WXS	Illumina GAIIx	Phase_I					0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				7	285						7	285	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs377142963|rs7410785	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1				BMS1 pseudogene 20																		ATACAGGTTTTCCCCCCCCACC	0.406																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661173_22661174insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661181_22661181dupC			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	265_266	+									RNA	INS	ENST00000426066.1	37																																																																																						0.406	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	142						7	142	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29708272	29708273	+	IGR	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:29708272_29708273insG	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000406549.3_Frame_Shift_Ins_p.MG384fs|GAS2L1_ENST00000403764.1_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGCCCTGGCATGGGGGGGCCAC	0.678																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1150-1152)aggfs		growth arrest-specific 2 like 1																																				SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708272_29708273insG	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708279_29708279dupG			Somatic				GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR	p.R384fs			WXS	Illumina GAIIx	Phase_I	Q99501	GA2L1_HUMAN			6	1301_1302	+			393					Q49AU5|Q6PI03	Frame_Shift_Ins	INS	ENST00000216101.6	37	c.1151_1152insG	CCDS13854.1																																																																																				0.678	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			18	318						18	318	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		9	273						9	273	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					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)	CTAATAAGCAGCCCCCCCAGAC	0.525																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-402)caccccfs		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.chr22:39917950_39917951insC	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.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs		Somatic				ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs	p.HP133fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	P18848	ATF4_HUMAN			2	1281_1282	+	Melanoma(58;0.04)		133					Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	c.399_400insC	CCDS13996.1																																																																																				0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		13	335						13	335	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40662479	40662480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:40662479_40662480insG	ENST00000454349.2	+	5	2456_2457	c.2245_2246insG	c.(2245-2247)tggfs	p.W749fs	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.W749fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	749	Interaction with argonaute proteins.				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						AAAGAATGGTTGGGGGGAGGAA	0.51																																						ENST00000454349.2																			0				breast(1)	1						c.(2245-2247)gggfs		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.chr22:40662479_40662480insG	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.2251dupG	22.37:g.40662485_40662485dupG	ENSP00000401946:p.Trp749fs		Somatic				TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.G749fs|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	p.G749fs	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			5	2456_2457	+			749					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.2245_2246insG	CCDS54533.1																																																																																				0.510	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				7	146						7	146	---	---	---	---
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	107	Asp/Glu-rich.				calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											TGTTCCAGAGGATGATGATGATG	0.478																																						ENST00000331479.3																			0											c.(304-306)del		single-pass membrane protein with aspartate-rich tail 1				0,4264		0,0,2132						3.7	1.0			147	3,8251		0,3,4124	no	coding	C22orf32	NM_033318.4		0,3,6256	A1A1,A1R,RR		0.0363,0.0,0.024				3,12515				SO:0001651	inframe_deletion	91689							g.chr22:42478046_42478048delGAT	BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.304_306delGAT	22.37:g.42478055_42478057delGAT	ENSP00000327467:p.Asp107del		Somatic				SMDT1_ENST00000547929.1_Intron	p.D107del	NM_033318.4	NP_201575.3	WXS	Illumina GAIIx	Phase_I					2	378_380	+								B2R5D1|Q8TAB9	In_Frame_Del	DEL	ENST00000331479.3	37	c.304_306delGAT	CCDS14031.1																																																																																				0.478	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		7	466						7	466	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs367543000|rs565013903	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)cgafs	p.R269fs	CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGTCAGGTCTCGGGGGGGCTGG	0.629																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CI994342	CYP2D6	I	rs72549352	c.(805-807)agafs		cytochrome P450, family 2, subfamily D, polypeptide 6																																				SO:0001589	frameshift_variant	1565						electron carrier activity|heme binding|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	g.chr22:42524213_42524214insG	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.806dupC	22.37:g.42524220_42524220dupG	ENSP00000353820:p.Arg269fs		Somatic				NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|NDUFA6-AS1_ENST00000416037.1_RNA	p.R269fs	NM_000106.5	NP_000097.3	WXS	Illumina GAIIx	Phase_I	Q6NWU0	Q6NWU0_HUMAN			5	919_920	-			269					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Ins	INS	ENST00000360608.5	37	c.805_806insC	CCDS46721.1																																																																																				0.629	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			8	88						8	88	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	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						GCTGCTCCCCTGGGGGGGTCCA	0.564																																						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.(364-366)gggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610947_42610948insG	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.365dupC	22.37:g.42610954_42610954dupG	ENSP00000352463:p.Gln122fs		Somatic				TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	p.G122fs	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			1	500_501	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.364_365insC	CCDS14033.1																																																																																				0.564	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		28	721						28	721	---	---	---	---
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:11316741_11316742insC	ENST00000380714.3	+	5	286_287	c.218_219insC	c.(217-222)caccccfs	p.HP73fs	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380712.3_Frame_Shift_Ins_p.HP87fs|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.HP57fs|ARHGAP6_ENST00000380736.1_Intron	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_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|ARHGAP6_ENST00000380732.3_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	272						7	272	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-396)ccccccfs		proline rich Gla (G-carboxyglutamic acid) 1																																				SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312610_37312611insC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs		Somatic				PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron	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		10	108						10	108	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs	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		13	393						13	393	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64722003	64722004	+	Frame_Shift_Ins	INS	-	-	C	rs375421440		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:64722003_64722004insC	ENST00000338957.4	+	5	1492_1493	c.1425_1426insC	c.(1426-1428)cccfs	p.P476fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.P465fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	476							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAATCCCACCCCCCAAAAG	0.594																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1423-1428)ccccccfs		zinc finger CCCH-type containing 12B																																				SO:0001589	frameshift_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722003_64722004insC	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1431dupC	X.37:g.64722009_64722009dupC	ENSP00000340839:p.Pro476fs		Somatic				ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.PP464fs	p.PP475fs	NM_001010888.3	NP_001010888.3	WXS	Illumina GAIIx	Phase_I	Q5HYM0	ZC12B_HUMAN			5	1492_1493	+			464					B2RTQ3|E9PAJ6|Q5H9C0	Frame_Shift_Ins	INS	ENST00000338957.4	37	c.1425_1426insC	CCDS48131.2																																																																																				0.594	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		7	255						7	255	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		13	672						13	672	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	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		9	321						9	321	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.Q290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)ggtfs		MAP7 domain containing 3																																				SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314193_135314194insG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923dupC	X.37:g.135314200_135314200dupG	ENSP00000318086:p.Gln308fs		Somatic				MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs	p.G308fs	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1142_1143	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Ins	INS	ENST00000316077.9	37	c.922_923insC	CCDS44004.1																																																																																				0.535	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			29	460						29	460	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)gttdel	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.36																																						ENST00000302450.6																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(193-195)del		cytoskeleton associated protein 2-like																																				SO:0001651	inframe_deletion	150468					centrosome		g.chr2:113514753_113514755delAAC	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.193_195delGTT	2.37:g.113514756_113514758delAAC	ENSP00000305204:p.Val65del		Somatic				CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	p.V65del	NM_152515.3	NP_689728.3	WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			4	271_273	-			65					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	In_Frame_Del	DEL	ENST00000302450.6	37	c.193_195delGTT	CCDS2100.1																																																																																				0.360	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		85	158						85	158	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049|rs199980560	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1252-1254)aatfs	p.N418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1249-1254)taatatfs																																						SO:0001589	frameshift_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563385_140563386insA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1253dupA	5.37:g.140563387_140563387dupA	ENSP00000354293:p.Asn418fs		Somatic					p.Y418fs	NM_020957.1	NP_066008.1	WXS	Illumina GAIIx	Phase_I	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2406_2407	+			418			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Frame_Shift_Ins	INS	ENST00000361016.2	37	c.1251_1252insA	CCDS4251.1																																																																																				0.455	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		51	92						51	92	---	---	---	---
SFPQ	6421	broad.mit.edu	37	1	35653663	35653664	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:35653663_35653664insCT	ENST00000357214.5	-	7	1823_1824	c.1725_1726insAG	c.(1723-1728)gaggaafs	p.E576fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	576					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATCATCTCTTCCTCTCTTCTAC	0.441			T	TFE3	papillary renal cell																																	ENST00000357214.5				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1723-1728)gaaagafs		splicing factor proline/glutamine-rich																																				SO:0001589	frameshift_variant	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35653663_35653664insCT	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1724_1725dupAG	1.37:g.35653668_35653669dupCT	ENSP00000349748:p.Glu576fs		Somatic					p.R576fs	NM_005066.2	NP_005057.1	WXS	Illumina GAIIx	Phase_I	P23246	SFPQ_HUMAN			7	1823_1824	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	576					P30808|Q5SZ71	Frame_Shift_Ins	INS	ENST00000357214.5	37	c.1725_1726insAG	CCDS388.1																																																																																				0.441	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		7	439						7	439	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115469134	115469134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:115469134delA	ENST00000369522.3	+	23	2116	c.1876delA	c.(1876-1878)aaafs	p.K628fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	628					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGCCTTGAAAAAAAAAGG	0.264																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1876-1878)aafs		synaptonemal complex protein 1							37.0	41.0	40.0					1																	115469134		2188	4275	6463	SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115469134delA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1876delA	1.37:g.115469134delA	ENSP00000358535:p.Lys628fs		Somatic				SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs	p.K628fs	NM_003176.2	NP_003167.2	WXS	Illumina GAIIx	Phase_I	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	23	2116	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	628					O14963|Q5VXJ6	Frame_Shift_Del	DEL	ENST00000369522.3	37	c.1876delA	CCDS879.1																																																																																				0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		2	4						2	4	---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425822	88425823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:88425822_88425823insC	ENST00000295834.3	-	2	210_211	c.112_113insG	c.(112-114)gtgfs	p.V38fs	FABP1_ENST00000393750.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	38					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATTTCCGACACCCCCTTGATA	0.53																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(112-114)gtcfs		fatty acid binding protein 1, liver																																				SO:0001589	frameshift_variant	2168				organ morphogenesis			g.chr2:88425822_88425823insC	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.113dupG	2.37:g.88425827_88425827dupC	ENSP00000295834:p.Val38fs		Somatic				FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR	p.V38fs			WXS	Illumina GAIIx	Phase_I	P07148	FABPL_HUMAN			2	143_144	-			38						Frame_Shift_Ins	INS	ENST00000295834.3	37	c.112_113insG	CCDS2001.1																																																																																				0.530	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		7	1918						7	1918	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:89083951delA	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		CTTTTTTTTCAGTGTATTTCT	0.348																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083951delA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083951delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	576	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.348	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			4	9						4	9	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)gttdel	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.36																																						ENST00000302450.6																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(193-195)del		cytoskeleton associated protein 2-like																																				SO:0001651	inframe_deletion	150468					centrosome		g.chr2:113514753_113514755delAAC	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.193_195delGTT	2.37:g.113514756_113514758delAAC	ENSP00000305204:p.Val65del		Somatic				CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	p.V65del	NM_152515.3	NP_689728.3	WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			4	271_273	-			65					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	In_Frame_Del	DEL	ENST00000302450.6	37	c.193_195delGTT	CCDS2100.1																																																																																				0.360	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		72	217						72	217	---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11059620	11059621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:11059620_11059621insG	ENST00000287766.4	+	4	751_752	c.330_331insG	c.(331-333)gggfs	p.G111fs	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	111					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	ACACCTCCATCGGGGGGCTAGG	0.599																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(328-333)atggggfs		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)																																			SO:0001589	frameshift_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059620_11059621insG		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.336dupG	3.37:g.11059626_11059626dupG	ENSP00000287766:p.Gly111fs		Somatic				SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	p.MG110fs	NM_003042.3	NP_003033.3	WXS	Illumina GAIIx	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	4	751_752	+		Ovarian(110;0.0392)	110					Q8N4K8	Frame_Shift_Ins	INS	ENST00000287766.4	37	c.330_331insG	CCDS2603.1																																																																																				0.599	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		9	490						9	490	---	---	---	---
SLC38A3	10991	broad.mit.edu	37	3	50255143	50255144	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:50255143_50255144insC	ENST00000420502.1	+	0	879_880									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CCTGCCCACTGCCCCCCAACTT	0.584																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)																																					10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255143_50255144insC	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255149_50255149dupC			Somatic								WXS	Illumina GAIIx	Phase_I	Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	879_880	+									RNA	INS	ENST00000420502.1	37																																																																																						0.584	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		7	142						7	142	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)cctfs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.53									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9946-9948)ccafs		dynein, axonemal, heavy chain 5																																				SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766238_13766239insG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9948dupC	5.37:g.13766244_13766244dupG	ENSP00000265104:p.Pro3316fs		Somatic				DNAH5_ENST00000504001.3_Intron	p.P3316fs	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			59	10051_10052	-	Lung NSC(4;0.00476)		3316			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	c.9947_9948insC	CCDS3882.1																																																																																				0.530	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	595						10	595	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	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			9	247						9	247	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	4883							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT			Somatic				NPR3_ENST00000265074.8_3'UTR	p.GC105fs			WXS	Illumina GAIIx	Phase_I					1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		11	538						11	538	---	---	---	---
PDLIM4	8572	broad.mit.edu	37	5	131606778	131606779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:131606778_131606779insC	ENST00000253754.3	+	4	562_563	c.498_499insC	c.(499-501)cccfs	p.P167fs	PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.P167fs|PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron	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		8	681						8	681	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049|rs199980560	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1252-1254)aatfs	p.N418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1249-1254)taatatfs																																						SO:0001589	frameshift_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563385_140563386insA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1253dupA	5.37:g.140563387_140563387dupA	ENSP00000354293:p.Asn418fs		Somatic					p.Y418fs	NM_020957.1	NP_066008.1	WXS	Illumina GAIIx	Phase_I	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2406_2407	+			418			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Frame_Shift_Ins	INS	ENST00000361016.2	37	c.1251_1252insA	CCDS4251.1																																																																																				0.455	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		39	74						39	74	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-	rs368201041		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del		Somatic				GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	p.L783del	NM_001470.2	NP_001461.1	WXS	Illumina GAIIx	Phase_I	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	635						7	635	---	---	---	---
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)gccfs	p.A489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.P454fs|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A489V(1)|p.H491fs*3(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTCG	0.53																																						ENST00000374516.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.A489V(1)|p.H491fs*3(1)	ovary(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1465-1467)cccfs		PHD finger protein 1																																				SO:0001589	frameshift_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383636_33383637insC	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1471dupC	6.37:g.33383642_33383642dupC	ENSP00000363640:p.Ala489fs		Somatic				PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	p.P489fs	NM_024165.2	NP_077084.1	WXS	Illumina GAIIx	Phase_I	O43189	PHF1_HUMAN			15	1736_1737	+		Ovarian(999;0.0443)	489					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	ENST00000374516.3	37	c.1465_1466insC	CCDS4777.1																																																																																				0.530	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			7	731						7	731	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)tttgcafs	p.A204fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000453593.1_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_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_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	727						8	727	---	---	---	---
PON3	5446	broad.mit.edu	37	7	94993290	94993291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:94993290_94993291insA	ENST00000265627.5	-	6	589_590	c.579_580insT	c.(577-582)tttgagfs	p.E194fs	PON3_ENST00000427422.1_Frame_Shift_Ins_p.E194fs|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Frame_Shift_Ins_p.E194fs	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	194					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AAGATCATCTCAAAAAATGACA	0.441																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(577-582)ttagatfs		paraoxonase 3																																				SO:0001589	frameshift_variant	5446							g.chr7:94993290_94993291insA	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.580dupT	7.37:g.94993296_94993296dupA	ENSP00000265627:p.Glu194fs		Somatic				PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs	p.LD193fs	NM_000940.2	NP_000931.1	WXS	Illumina GAIIx	Phase_I			STAD - Stomach adenocarcinoma(171;0.0151)		6	589_590	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Frame_Shift_Ins	INS	ENST00000265627.5	37	c.579_580insT	CCDS5639.1																																																																																				0.441	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		7	881						7	881	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs		Somatic					p.PT571fs	NM_053043.2	NP_444271.2	WXS	Illumina GAIIx	Phase_I	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.530	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		7	273						7	273	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA			Somatic								WXS	Illumina GAIIx	Phase_I	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75407208	75407209	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:75407208_75407209insT	ENST00000297784.5	+	17	2046_2047	c.1506_1507insT	c.(1507-1509)tttfs	p.F503fs	TMC1_ENST00000396237.3_Frame_Shift_Ins_p.F503fs|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.F503fs|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	503					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						CTGGACCACCCTTTTTTGTTCA	0.441																																					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.(1504-1509)ccttttfs		transmembrane channel-like 1																																				SO:0001589	frameshift_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75407208_75407209insT	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.1512dupT	9.37:g.75407214_75407214dupT	ENSP00000297784:p.Phe503fs		Somatic				TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Frame_Shift_Ins_p.PF502fs|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.PF502fs	p.PF502fs	NM_138691.2	NP_619636.2	WXS	Illumina GAIIx	Phase_I	Q8TDI8	TMC1_HUMAN			17	2046_2047	+			502					A8MVZ2|B1AM91	Frame_Shift_Ins	INS	ENST00000297784.5	37	c.1506_1507insT	CCDS6643.1																																																																																				0.441	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			10	1426						10	1426	---	---	---	---
PTGS1	5742	broad.mit.edu	37	9	125141076	125141077	+	Frame_Shift_Ins	INS	-	-	C	rs147795437		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:125141076_125141077insC	ENST00000362012.2	+	5	380_381	c.375_376insC	c.(376-378)cccfs	p.P126fs	PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P17fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P126fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P101fs	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	126					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTATCCCCAGTCCCCCCACCTA	0.535																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(373-378)agccccfs		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)																																			SO:0001589	frameshift_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125141076_125141077insC	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.381dupC	9.37:g.125141082_125141082dupC	ENSP00000354612:p.Pro126fs		Somatic				PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.SP100fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.SP125fs|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.SP16fs	p.SP125fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	WXS	Illumina GAIIx	Phase_I	P23219	PGH1_HUMAN			5	380_381	+			125					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Frame_Shift_Ins	INS	ENST00000362012.2	37	c.375_376insC	CCDS6842.1																																																																																				0.535	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			9	234						9	234	---	---	---	---
PTGS1	5742	broad.mit.edu	37	9	125148875	125148876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:125148875_125148876insC	ENST00000362012.2	+	9	1165_1166	c.1160_1161insC	c.(1159-1164)caccccfs	p.HP387fs	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.HP278fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.HP387fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.HP362fs	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	387					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACCACTGGCACCCCCTCATGC	0.54																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1159-1161)cccfs		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)																																			SO:0001589	frameshift_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125148875_125148876insC	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1165dupC	9.37:g.125148880_125148880dupC	ENSP00000354612:p.His387fs		Somatic				PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P362fs|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P387fs|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P278fs	p.P387fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	WXS	Illumina GAIIx	Phase_I	P23219	PGH1_HUMAN			9	1165_1166	+			387					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Frame_Shift_Ins	INS	ENST00000362012.2	37	c.1160_1161insC	CCDS6842.1																																																																																				0.540	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			8	705						8	705	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	910158	910159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:910158_910159insC	ENST00000316157.3	-	3	233_234	c.193_194insG	c.(193-195)gctfs	p.A65fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	65					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAACACAGGAGCCCCCCACACT	0.52																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(193-195)tccfs		La ribonucleoprotein domain family, member 4B																																				SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:910158_910159insC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.194dupG	10.37:g.910164_910164dupC	ENSP00000326128:p.Ala65fs		Somatic					p.S65fs	NM_015155.1	NP_055970.1	WXS	Illumina GAIIx	Phase_I	Q92615	LAR4B_HUMAN			3	233_234	-			65					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Ins	INS	ENST00000316157.3	37	c.193_194insG	CCDS31131.1																																																																																				0.520	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		8	351						8	351	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					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						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					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.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	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.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del		Somatic				KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del	p.E812del			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		8	351						8	351	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102762592	102762593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:102762592_102762593insC	ENST00000370220.1	+	1	3360_3361	c.297_298insC	c.(298-300)cccfs	p.P100fs	LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.P100fs					leucine zipper, putative tumor suppressor 2									p.S102fs*41(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)		GGACAGAGTCACCCCCCAGCCC	0.614																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			2	Deletion - Frameshift(2)	p.S102fs*41(2)	large_intestine(2)	breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(295-300)tcccccfs		leucine zipper, putative tumor suppressor 2																																				SO:0001589	frameshift_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102762592_102762593insC	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.303dupC	10.37:g.102762598_102762598dupC	ENSP00000359240:p.Pro100fs		Somatic				LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.SP99fs	p.SP99fs			WXS	Illumina GAIIx	Phase_I	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	1	3360_3361	+			99			Required for centrosomal localization (By similarity).			Frame_Shift_Ins	INS	ENST00000370220.1	37	c.297_298insC	CCDS7507.1																																																																																				0.614	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		7	222						7	222	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105176292	105176293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:105176292_105176293insA	ENST00000369797.3	+	13	1657_1658	c.1563_1564insA	c.(1564-1566)aaafs	p.K522fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	522	S1 motif 5. {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)		TGATGACCCTGAAAAAAACCCT	0.485											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1561-1566)ctaaaafs		programmed cell death 11																																				SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105176292_105176293insA	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.1570dupA	10.37:g.105176299_105176299dupA	ENSP00000358812:p.Lys522fs		Somatic	OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387		p.LK521fs	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)	13	1657_1658	+		Colorectal(252;0.0747)|Breast(234;0.128)	521			S1 motif 5.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Ins	INS	ENST00000369797.3	37	c.1563_1564insA	CCDS31276.1																																																																																				0.485	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			7	564						7	564	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9048995	9048996	+	Frame_Shift_Ins	INS	-	-	G	rs374515295		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:9048995_9048996insG	ENST00000309263.3	-	19	2601_2602	c.2529_2530insC	c.(2527-2532)cccaagfs	p.K844fs	SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000457346.2_Frame_Shift_Ins_p.K873fs|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.K816fs|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	844	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGGT	0.569																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2614-2619)ccagcgfs		signal peptide, CUB domain, EGF-like 2			,	1,4263		0,1,2131					,	5.3	1.0			128	1,8253		0,1,4126	no	frameshift,intron	SCUBE2	NM_020974.2,NM_001170690.1	,	0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016	,	,		2,12516				SO:0001589	frameshift_variant	57758					extracellular region	calcium ion binding	g.chr11:9048995_9048996insG	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.2530dupC	11.37:g.9049001_9049001dupG	ENSP00000310658:p.Lys844fs		Somatic				SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs	p.A873fs			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)	20	2690_2691	-			844			CUB.		Q2NKQ8|Q6ZWI1	Frame_Shift_Ins	INS	ENST00000309263.3	37	c.2616_2617insC																																																																																					0.569	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		7	162						7	162	---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34154644	34154645	+	Frame_Shift_Ins	INS	-	-	C	rs61735311	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:34154644_34154645insC	ENST00000257829.3	+	16	1895_1896	c.1689_1690insC	c.(1690-1692)cccfs	p.P564fs	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Frame_Shift_Ins_p.P492fs	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	564	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGCCTCCCGTGCCCCCCACCCA	0.559																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1687-1692)gtccccfs		N-acetyltransferase 10 (GCN5-related)																																				SO:0001589	frameshift_variant	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34154644_34154645insC	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1695dupC	11.37:g.34154650_34154650dupC	ENSP00000257829:p.Pro564fs		Somatic				NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Frame_Shift_Ins_p.VP491fs	p.VP563fs	NM_024662.2	NP_078938.2	WXS	Illumina GAIIx	Phase_I	Q9H0A0	NAT10_HUMAN			16	1895_1896	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	563			N-acetyltransferase.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Frame_Shift_Ins	INS	ENST00000257829.3	37	c.1689_1690insC	CCDS7889.1																																																																																				0.559	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		7	369						7	369	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.55																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(448-450)aggfs		olfactory receptor, family 4, subfamily D, member 11																																				SO:0001589	frameshift_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271497_59271498insG	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.455dupG	11.37:g.59271503_59271503dupG	ENSP00000320077:p.Met150fs		Somatic					p.R150fs	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	449_450	+			150						Frame_Shift_Ins	INS	ENST00000313253.1	37	c.449_450insG	CCDS31563.1																																																																																				0.550	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		7	620						7	620	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	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		10	120						10	120	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61178448	61178449	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:61178448_61178449delTC	ENST00000394888.4	-	9	1554_1555	c.1382_1383delGA	c.(1381-1383)agafs	p.R461fs	CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000340437.4_Frame_Shift_Del_p.R504fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	461	Arg-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						TATCCCGGTGTCTCTCATGCTC	0.52																																						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.(1510-1512)afs		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.chr11:61178448_61178449delTC		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.1382_1383delGA	11.37:g.61178452_61178453delTC	ENSP00000378352:p.Arg461fs		Somatic				CPSF7_ENST00000394888.4_Frame_Shift_Del_p.R461fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs	p.R504fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			9	1591_1592	-			461					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Del	DEL	ENST00000394888.4	37	c.1511_1512delGA	CCDS44619.1																																																																																				0.520	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		9	248						9	248	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62295353	62295353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62295353delA	ENST00000378024.4	-	5	6810	c.6536delT	c.(6535-6537)ttcfs	p.F2179fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2179					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)				GGGGGTCTTGAAGTGCATCTC	0.488																																						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.(6535-6537)tcfs		AHNAK nucleoprotein							211.0	222.0	218.0					11																	62295353		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62295353delA	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.6536delT	11.37:g.62295353delA	ENSP00000367263:p.Phe2179fs		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F2179fs	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	6810	-		Melanoma(852;0.155)	2179					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.6536delT	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	944						8	944	---	---	---	---
STX5	6811	broad.mit.edu	37	11	62598584	62598585	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62598584_62598585insG	ENST00000294179.3	-	2	284_285	c.131_132insC	c.(130-132)ccafs	p.P44fs	RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000394690.1_Splice_Site|STX5_ENST00000541317.1_Intron|RP11-727F15.9_ENST00000535817.1_RNA|STX5_ENST00000377897.4_Frame_Shift_Ins_p.P44fs	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	44					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.V45fs*38(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CGAGGGTCACTGGGGGGGGCAG	0.629																																						ENST00000294179.3																			1	Insertion - Frameshift(1)	p.V45fs*38(1)	ovary(1)	breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(130-132)cgtfs		syntaxin 5																																				SO:0001589	frameshift_variant	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62598584_62598585insG	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.132dupC	11.37:g.62598592_62598592dupG	ENSP00000294179:p.Pro44fs		Somatic				STX5_ENST00000394690.1_Splice_Site|STX5_ENST00000377897.4_Frame_Shift_Ins_p.R44fs|STX5_ENST00000541317.1_Intron	p.R44fs	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	WXS	Illumina GAIIx	Phase_I	Q13190	STX5_HUMAN			2	284_285	-			44					B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Frame_Shift_Ins	INS	ENST00000294179.3	37	c.131_132insC	CCDS8038.2																																																																																				0.629	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		2	4						2	4	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.G132fs	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGGGTTCTTGCCCCCCAGCTC	0.644																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(394-396)gaafs		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)																																			SO:0001589	frameshift_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433066_67433067insC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.396dupG	11.37:g.67433072_67433072dupC	ENSP00000255084:p.Gly132fs		Somatic				ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	p.E132fs	NM_000695.3	NP_000686.2	WXS	Illumina GAIIx	Phase_I	P48448	AL3B2_HUMAN			7	833_834	-			132	G -> V (in Ref. 4; BAC03897).				Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Ins	INS	ENST00000349015.3	37	c.395_396insG	CCDS31622.1																																																																																				0.644	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		10	679						10	679	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6952601	6952602	+	Frame_Shift_Ins	INS	-	-	G	rs201963490		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:6952601_6952602insG	ENST00000229264.3	+	7	747_748	c.342_343insG	c.(343-345)gggfs	p.G115fs	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Frame_Shift_Ins_p.G115fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	115					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.G115W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TTGTGGCATGTGGGGGGCTGGA	0.584																																						ENST00000229264.3																			1	Substitution - Missense(1)	p.G115W(1)	lung(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(340-345)tgggggfs		guanine nucleotide binding protein (G protein), beta polypeptide 3																																				SO:0001589	frameshift_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952601_6952602insG		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.348dupG	12.37:g.6952607_6952607dupG	ENSP00000229264:p.Gly115fs		Somatic				GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs	p.WG114fs	NM_002075.2	NP_002066.1	WXS	Illumina GAIIx	Phase_I	P16520	GBB3_HUMAN			7	747_748	+			114					Q96B71|Q9BQC0	Frame_Shift_Ins	INS	ENST00000229264.3	37	c.342_343insG	CCDS8564.1																																																																																				0.584	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		7	410						7	410	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	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		7	904						7	904	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12278301	12278302	+	Frame_Shift_Ins	INS	-	-	G	rs370547081		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:12278301_12278302insG	ENST00000261349.4	-	21	4453_4454	c.4377_4378insC	c.(4375-4380)ccctatfs	p.Y1460fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.Y1415fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1460					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)				GCTCGGTCATAGGGGGGTCCAC	0.446																																						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.(4375-4380)ccatgafs		low density lipoprotein receptor-related protein 6				0,4264		0,0,2132						5.7	1.0			99	1,8253		0,1,4126	no	frameshift	LRP6	NM_002336.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				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.chr12:12278301_12278302insG	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.4378dupC	12.37:g.12278307_12278307dupG	ENSP00000261349:p.Tyr1460fs		Somatic				BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.*1415fs|LRP6_ENST00000540415.1_5'UTR	p.*1460fs	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			21	4453_4454	-		Prostate(47;0.0865)	1460					Q17RZ2	Frame_Shift_Ins	INS	ENST00000261349.4	37	c.4377_4378insC	CCDS8647.1																																																																																				0.446	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			7	415						7	415	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58160653	58160654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:58160653_58160654insC	ENST00000228606.4	-	1	380_381	c.171_172insG	c.(169-174)gggctgfs	p.L58fs	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	58					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGCCTCGACAGCCCCCCCTTGC	0.599																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(169-174)ggtgtcfs		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)																																			SO:0001589	frameshift_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160653_58160654insC	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.172dupG	12.37:g.58160660_58160660dupC	ENSP00000228606:p.Leu58fs		Somatic				RP11-571M6.13_ENST00000546609.1_RNA	p.V58fs	NM_000785.3	NP_000776.1	WXS	Illumina GAIIx	Phase_I	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	380_381	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		58					B2RC61|Q548T3	Frame_Shift_Ins	INS	ENST00000228606.4	37	c.171_172insG	CCDS8954.1																																																																																				0.599	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		11	208						11	208	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs193922103|rs137853287|rs587779354		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cccatgfs	p.M769fs	ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.M769fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.M41fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.M658fs|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD). {ECO:0000269|PubMed:10790207}.|M -> R (in WD).|M -> V (in WD). {ECO:0000269|PubMed:11690702}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACAAAGAGCATGGGGGGCGTGT	0.52									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CD982475|CI951903|CM992596	ATP7B	D|I|M		c.(2302-2307)cctgctfs		ATPase, Cu++ transporting, beta polypeptide																																				SO:0001589	frameshift_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52532497_52532498insG	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2305dupC	13.37:g.52532503_52532503dupG	ENSP00000242839:p.Met769fs		Somatic				ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_Intron	p.A769fs	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	8	2460_2461	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	769		M -> I (in WD).|M -> R (in WD).|M -> V (in WD).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Ins	INS	ENST00000242839.4	37	c.2304_2305insC	CCDS41892.1																																																																																				0.520	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		9	980						9	980	---	---	---	---
RP11-739G5.1	0	broad.mit.edu	37	15	94216823	94216828	+	lincRNA	DEL	CTCCTT	CTCCTT	-	rs575275712	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:94216823_94216828delCTCCTT	ENST00000554318.2	+	0	324																											cttcctcctcctccttctccttctcc	0.461														28	0.00559105	0.0129	0.0086	5008	,	,		22558	0.0		0.004	False		,,,				2504	0.001					ENST00000554318.2																			0																																																			0							g.chr15:94216823_94216828delCTCCTT																													15.37:g.94216829_94216834delCTCCTT			Somatic								WXS	Illumina GAIIx	Phase_I					0	324	+									RNA	DEL	ENST00000554318.2	37																																																																																						0.461	RP11-739G5.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415162.2			4	5						4	5	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2807545	2807546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:2807545_2807546insG	ENST00000301740.8	+	3	864_865	c.315_316insG	c.(316-318)gggfs	p.G106fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	106					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATGTGAACCCTGGGGGCAAGGA	0.559																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(313-318)ccggggfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2807545_2807546insG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.320dupG	16.37:g.2807550_2807550dupG	ENSP00000301740:p.Gly106fs		Somatic					p.PG105fs	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			3	864_865	+			105					A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.315_316insG	CCDS32373.1																																																																																				0.559	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			8	643						8	643	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786|rs201055598		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	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			7	541						7	541	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28846490	28846491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:28846490_28846491insC	ENST00000336783.4	+	19	2712_2713	c.2545_2546insC	c.(2545-2547)accfs	p.T849fs	ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.T849fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.T849fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.T855fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.T849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.T849fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.T849fs|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	849					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						AGAGCAGCCTACCCCCCAAGCC	0.624																																						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.(2545-2547)cccfs		ataxin 2-like																																				SO:0001589	frameshift_variant	11273					membrane		g.chr16:28846490_28846491insC		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.2551dupC	16.37:g.28846496_28846496dupC	ENSP00000338718:p.Thr849fs		Somatic				ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P855fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P849fs|RP11-24N18.1_ENST00000563565.1_RNA	p.P849fs	NM_007245.3	NP_009176.2	WXS	Illumina GAIIx	Phase_I	Q8WWM7	ATX2L_HUMAN			19	2712_2713	+			849					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Ins	INS	ENST00000336783.4	37	c.2545_2546insC	CCDS10641.1																																																																																				0.624	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		9	689						9	689	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31308913	31308914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:31308913_31308914insC	ENST00000287497.8	+	13	1510_1511	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs	ITGAM_ENST00000544665.3_Frame_Shift_Ins_p.A479fs			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	479					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCTCATCGGGGCCCCCCATTAC	0.673																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1435-1437)cccfs		integrin, alpha M (complement component 3 receptor 3 subunit)																																				SO:0001589	frameshift_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308913_31308914insC	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1441dupC	16.37:g.31308919_31308919dupC	ENSP00000287497:p.Ala479fs		Somatic				ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.P479fs	p.P479fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			13	1506_1507	+			479					Q4VAK0|Q4VAK1|Q4VAK2	Frame_Shift_Ins	INS	ENST00000287497.8	37	c.1435_1436insC	CCDS45470.1																																																																																				0.673	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		7	395						7	395	---	---	---	---
AC012322.1	0	broad.mit.edu	37	16	64294575	64294575	+	lincRNA	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:64294575delA	ENST00000561657.1	-	0	584																											ACACACCGTTAAAAAAAAAAC	0.493																																						ENST00000561657.1																			0																																																			0							g.chr16:64294575delA																													16.37:g.64294575delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	584	-									RNA	DEL	ENST00000561657.1	37																																																																																						0.493	AC012322.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420578.1			15	497						15	497	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	8						4	8	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(895-897)del		telomeric repeat binding factor 2, interacting protein				1,182,4081		0,0,1,0,182,1949						-3.9	1.0			71	0,377,7877		0,0,0,1,375,3751	no	codingComplex	TERF2IP	NM_018975.3		0,0,1,1,557,5700	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5675,4.2917,4.4736				1,559,11958				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690204_75690206delGAA	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.895_897delGAA	16.37:g.75690213_75690215delGAA	ENSP00000300086:p.Glu304del		Somatic					p.E304del	NM_018975.3	NP_061848.2	WXS	Illumina GAIIx	Phase_I	Q9NYB0	TE2IP_HUMAN			3	992_994	+			304			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.895_897delGAA	CCDS32491.1																																																																																				0.424	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		9	156						9	156	---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7402718	7402719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:7402718_7402719insC	ENST00000322644.6	+	10	1978_1979	c.1579_1580insC	c.(1579-1581)accfs	p.T527fs	POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.T527fs	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	527					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)				CATGATTGTCACCCCCCAGAGC	0.564																																						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.(1579-1581)cccfs		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa																																				SO:0001589	frameshift_variant	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.chr17:7402718_7402719insC			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.1585dupC	17.37:g.7402724_7402724dupC	ENSP00000314949:p.Thr527fs		Somatic				POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.P527fs	p.P527fs	NM_000937.4	NP_000928.1	WXS	Illumina GAIIx	Phase_I	P24928	RPB1_HUMAN			10	1978_1979	+		Prostate(122;0.173)	527					A6NN93|B9EH88|Q6NX41	Frame_Shift_Ins	INS	ENST00000322644.6	37	c.1579_1580insC	CCDS32548.1																																																																																				0.564	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		8	212						8	212	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	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|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs	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_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs	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		14	138						14	138	---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79517945	79517946	+	Frame_Shift_Ins	INS	-	-	G	rs149308791		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:79517945_79517946insG	ENST00000327787.8	-	3	620_621	c.574_575insC	c.(574-576)cacfs	p.H192fs	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Frame_Shift_Ins_p.H41fs			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	192					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGGAAGGAAGTGGGGGGCTGCA	0.693																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(121-123)cttfs		chromosome 17 open reading frame 70																																				SO:0001589	frameshift_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517945_79517946insG	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.575dupC	17.37:g.79517951_79517951dupG	ENSP00000333283:p.His192fs		Somatic				C17orf70_ENST00000327787.8_Frame_Shift_Ins_p.L192fs	p.L41fs	NM_025161.5	NP_079437.5	WXS	Illumina GAIIx	Phase_I	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	646_647	-	all_neural(118;0.0878)|Melanoma(429;0.242)		192					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Ins	INS	ENST00000327787.8	37	c.121_122insC	CCDS32765.2																																																																																				0.693	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		2	4						2	4	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)ccafs	p.P33fs	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.P33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.P33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(97-99)caafs		egf-like module containing, mucin-like, hormone receptor-like 3																																				SO:0001589	frameshift_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14774330_14774331insG	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.99dupC	19.37:g.14774336_14774336dupG	ENSP00000253673:p.Pro33fs		Somatic				EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs	p.Q33fs	NM_032571.3	NP_115960.2	WXS	Illumina GAIIx	Phase_I	Q9BY15	EMR3_HUMAN			3	198_199	-			33			EGF-like 1.			Frame_Shift_Ins	INS	ENST00000253673.5	37	c.98_99insC	CCDS12315.1																																																																																				0.485	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		10	291						10	291	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20027414	20027415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:20027414_20027415insA	ENST00000343769.5	+	3	204_205	c.176_177insA	c.(175-180)ggaaaafs	p.GK59fs	AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.GK59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.GK59fs	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	59	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)|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						CTGGAGCAAGGAAAAAAACCTT	0.406																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(175-177)gaafs		zinc finger protein 93																																				SO:0001589	frameshift_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20027414_20027415insA	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.183dupA	19.37:g.20027421_20027421dupA	ENSP00000342002:p.Gly59fs		Somatic				ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.E59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.E59fs|AC007204.2_ENST00000592245.1_lincRNA	p.E59fs	NM_031218.3	NP_112495.2	WXS	Illumina GAIIx	Phase_I	P35789	ZNF93_HUMAN			3	204_205	+			59			KRAB.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Frame_Shift_Ins	INS	ENST00000343769.5	37	c.176_177insA	CCDS32973.1																																																																																				0.406	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		8	331						8	331	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G	rs201411926		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:34887281_34887282insG	ENST00000356487.5	+	13	1379_1380	c.1138_1139insG	c.(1138-1140)tggfs	p.W380fs	GPI_ENST00000586425.1_Frame_Shift_Ins_p.W380fs|GPI_ENST00000415930.3_Frame_Shift_Ins_p.W391fs	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			7	143						7	143	---	---	---	---
ZBTB32	27033	broad.mit.edu	37	19	36205537	36205538	+	Frame_Shift_Ins	INS	-	-	C	rs572240684		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:36205537_36205538insC	ENST00000392197.2	+	3	327_328	c.9_10insC	c.(10-12)cccfs	p.P4fs	ZBTB32_ENST00000262630.3_Frame_Shift_Ins_p.P4fs			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	4					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAATGTCCCTGCCCCCCATAAG	0.569																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(7-12)ctccccfs		zinc finger and BTB domain containing 32																																				SO:0001589	frameshift_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205537_36205538insC	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.15dupC	19.37:g.36205543_36205543dupC	ENSP00000376035:p.Pro4fs		Somatic				ZBTB32_ENST00000262630.3_Frame_Shift_Ins_p.LP3fs	p.LP3fs			WXS	Illumina GAIIx	Phase_I	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	327_328	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		3					Q8WVP2	Frame_Shift_Ins	INS	ENST00000392197.2	37	c.9_10insC	CCDS12471.1																																																																																				0.569	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		10	565						10	565	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)cccaccfs	p.T743fs	SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.T206fs|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_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	p.R743fs	NM_015063.2	NP_055878.1	WXS	Illumina GAIIx	Phase_I	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2621_2622	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	743					B4DYQ9	Frame_Shift_Ins	INS	ENST00000236877.6	37	c.2226_2227insC	CCDS33065.1																																																																																				0.649	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			9	474						9	474	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)accfs	p.T224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCAGCCCAGACCCCCCCTTAC	0.703																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(670-672)cccfs		proline rich 12																																				SO:0001589	frameshift_variant	57479						DNA binding	g.chr19:50098262_50098263insC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.677dupC	19.37:g.50098269_50098269dupC	ENSP00000394510:p.Thr224fs		Somatic					p.P224fs	NM_020719.1	NP_065770.1	WXS	Illumina GAIIx	Phase_I	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	682_683	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	4			Pro-rich.		E9PB06|Q8N4J6	Frame_Shift_Ins	INS	ENST00000418929.2	37	c.670_671insC	CCDS46143.1																																																																																				0.703	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		2	4						2	4	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_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_ENST00000278795.3_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_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	202						9	202	---	---	---	---
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	107	Asp/Glu-rich.				calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											TGTTCCAGAGGATGATGATGATG	0.478																																						ENST00000331479.3																			0											c.(304-306)del		single-pass membrane protein with aspartate-rich tail 1				0,4264		0,0,2132						3.7	1.0			147	3,8251		0,3,4124	no	coding	C22orf32	NM_033318.4		0,3,6256	A1A1,A1R,RR		0.0363,0.0,0.024				3,12515				SO:0001651	inframe_deletion	91689							g.chr22:42478046_42478048delGAT	BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.304_306delGAT	22.37:g.42478055_42478057delGAT	ENSP00000327467:p.Asp107del		Somatic				SMDT1_ENST00000547929.1_Intron	p.D107del	NM_033318.4	NP_201575.3	WXS	Illumina GAIIx	Phase_I					2	378_380	+								B2R5D1|Q8TAB9	In_Frame_Del	DEL	ENST00000331479.3	37	c.304_306delGAT	CCDS14031.1																																																																																				0.478	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		7	466						7	466	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				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						GGTGAAGGGAaggaggaggagga	0.507																																						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.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	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.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del		Somatic				TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		7	650						7	650	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)gttdel	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.36																																						ENST00000302450.6																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(193-195)del		cytoskeleton associated protein 2-like																																				SO:0001651	inframe_deletion	150468					centrosome		g.chr2:113514753_113514755delAAC	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.193_195delGTT	2.37:g.113514756_113514758delAAC	ENSP00000305204:p.Val65del		Somatic				CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_Intron	p.V65del	NM_152515.3	NP_689728.3	WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			4	271_273	-			65					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	In_Frame_Del	DEL	ENST00000302450.6	37	c.193_195delGTT	CCDS2100.1																																																																																				0.360	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		85	158						85	158	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	lincRNA	DEL	T	T	-	rs71401155	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													|||unknown(HR)	2984	0.595847	0.4977	0.6196	5008	,	,		15474	0.5893		0.6431	False		,,,				2504	0.6697					ENST00000441803.1																			0																																																			0							g.chr2:217474994delT																													2.37:g.217474994delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	2						3	2	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049|rs199980560	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1252-1254)aatfs	p.N418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1249-1254)taatatfs																																						SO:0001589	frameshift_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563385_140563386insA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1253dupA	5.37:g.140563387_140563387dupA	ENSP00000354293:p.Asn418fs		Somatic					p.Y418fs	NM_020957.1	NP_066008.1	WXS	Illumina GAIIx	Phase_I	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2406_2407	+			418			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Frame_Shift_Ins	INS	ENST00000361016.2	37	c.1251_1252insA	CCDS4251.1																																																																																				0.455	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		51	92						51	92	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			6967							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG			Somatic								WXS	Illumina GAIIx	Phase_I					0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		22	111						22	111	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284914	38284917	+	RNA	DEL	CTGA	CTGA	-	rs149178316|rs563966650|rs147429736	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:38284914_38284917delCTGA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										gtgtgtgtgtctgagtgtgtctgt	0.392														166	0.033147	0.0083	0.0231	5008	,	,		17035	0.0784		0.0358	False		,,,				2504	0.0245					ENST00000436911.2																			0																																																			6967							g.chr7:38284914_38284917delCTGA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284914_38284917delCTGA			Somatic								WXS	Illumina GAIIx	Phase_I					0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.392	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		14	67						14	67	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595145	82595146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:82595145_82595146insG	ENST00000333891.9	-	4	4295_4296	c.3958_3959insC	c.(3958-3960)cagfs	p.Q1320fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.Q1320fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGTGGCTGTTCTTTTATT	0.406																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3958-3960)gccfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595145_82595146insG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3959dupC	7.37:g.82595146_82595146dupG	ENSP00000334319:p.Gln1320fs		Somatic				PCLO_ENST00000333891.8_Frame_Shift_Ins_p.A1320fs	p.A1320fs	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			4	4295_4296	-			1259						Frame_Shift_Ins	INS	ENST00000333891.9	37	c.3958_3959insC	CCDS47630.1																																																																																				0.406	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	227						7	227	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del		Somatic					p.PPT469del	NM_032867.2	NP_116256.2	WXS	Illumina GAIIx	Phase_I	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		8	9						8	9	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC			Somatic				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				WXS	Illumina GAIIx	Phase_I	Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	5	10						5	10	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs		Somatic				IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs	p.E172fs			WXS	Illumina GAIIx	Phase_I	P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		17	291						17	291	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	5						3	5	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del		Somatic				TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	WXS	Illumina GAIIx	Phase_I	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		7	142						7	142	---	---	---	---
