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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DDX10	1662	broad.mit.edu	37	11	108712205	108712205	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:108712205T>C	uc001pkm.3	+	15	2312	c.2247_splice	c.e15+2	p.R749_splice	DDX10_uc001pkl.1_Splice_Site_p.R749_splice	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	749							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGCATCGGGTAAGCTTTCCA	0.308000			T	NUP98	AML*									15			13		0	0	0.000308642	0	0
TECTA	7007	broad.mit.edu	37	11	120996244	120996244	+	Silent	SNP	G	A	A	rs140634094		TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:120996244G>A	uc010rzo.2	+	6	1437	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	479	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.P479P(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGCAGGCCGGCCATGTCTG	0.577000														44			31		0	0	0.000279167	0	0
CLCN3	1182	broad.mit.edu	37	4	170618531	170618531	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr4:170618531G>T	uc003ish.3	+	8	1768	c.1209G>T	c.(1207-1209)tgG>tgT	p.W403C	CLCN3_uc003isi.3_Missense_Mutation_p.W403C|CLCN3_uc011cka.2_Missense_Mutation_p.W376C|CLCN3_uc011cjz.2_Missense_Mutation_p.W386C|CLCN3_uc003isj.2_Missense_Mutation_p.W376C	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	403					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAGGGCTTTGGGGAGCCTTTT	0.438000														154			7		0.000274275	0.00857637	0.000274275	1	0
EIF2C2	27161	broad.mit.edu	37	8	141557663	141557663	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr8:141557663T>C	uc003yvn.3	-	12	1693	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	EIF2C2_uc010meo.3_Missense_Mutation_p.N551S|EIF2C2_uc010men.3_Missense_Mutation_p.N474S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	551	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CCTCTGCACGTTCTTCATCTG	0.622000														68			18		0	0	0.00074312	0	0
TXLNB	167838	broad.mit.edu	37	6	139591648	139591648	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr6:139591648C>T	uc021zfy.1	-	3	797	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	211						cytoplasm		p.R211*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CAATTTGCTTCGAGCGAGGAT	0.443000														36			23		0	0	0.000586117	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802280	43802280	+	Silent	SNP	G	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr21:43802280G>T	uc002zbb.2	-	8	1047	c.846C>A	c.(844-846)gcC>gcA	p.A282A	TMPRSS3_uc002zay.2_Silent_p.A40A|TMPRSS3_uc002zaz.2_Silent_p.A155A|TMPRSS3_uc002zba.2_Silent_p.A155A|TMPRSS3_uc002zbc.2_Silent_p.A282A|TMPRSS3_uc002zbd.3_Silent_p.A282A	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	282	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGTGGGATGGGGCTGGATTGT	0.527000														57			18		5.35267e-07	1.76421e-05	0.000958276	1	0
LRBA	987	broad.mit.edu	37	4	151773037	151773037	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr4:151773037C>T	uc010ipj.3	-	23	4069	c.3825_splice	c.e23+1	p.E1275_splice	LRBA_uc003ilt.4_5'Flank|LRBA_uc003ilu.4_Splice_Site_p.E1275_splice	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1275						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATAAAATCACCTCAAGCACAT	0.368000														17			13		0	0	0.00010058	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														5			4		0	0	8.12818e-05	0	0
CPNE3	8895	broad.mit.edu	37	8	87563304	87563304	+	Silent	SNP	C	T	T	rs137984538	by1000genomes	TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr8:87563304C>T	uc003ydv.2	+	12	1206	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G	CPNE3_uc003ydw.1_Silent_p.G64G	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	348	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGGTTTTGGCGCTCAGATAC	0.363000														30			7		0	0	8.12818e-05	0	0
RELN	5649	broad.mit.edu	37	7	103290823	103290823	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:103290823G>A	uc022ajr.1	-	15	2060	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	RELN_uc022ajq.1_Nonsense_Mutation_p.R634*|RELN_uc010liz.3_Nonsense_Mutation_p.R634*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	634					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGTTATTCGGTTCCACCTG	0.413000														77			7		0	0	8.12818e-05	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35204571	35204571	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:35204571C>T	uc003teq.1	-	5	695	c.-412_splice	c.e5-1		DPY19L2P1_uc010kwz.1_5'Flank					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GCTATGATTACCTTAAAAAAG	0.299000														25			19		0	0	0.000132079	0	0
PITPNM1	9600	broad.mit.edu	37	11	67266200	67266200	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:67266200C>G	uc001olx.3	-	8	1540	c.1351G>C	c.(1351-1353)Gcg>Ccg	p.A451P	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.A451P|PITPNM1_uc001olz.3_Missense_Mutation_p.A451P	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	451					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGCACATCCGCCTGCTTGGAG	0.667000														363			29		0	0	0.000339439	0	0
FOLH1	2346	broad.mit.edu	37	11	49168493	49168493	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:49168493C>T	uc001ngy.3	-	18	2329	c.2068G>A	c.(2068-2070)Gtc>Atc	p.V690I	FOLH1_uc001ngx.3_Missense_Mutation_p.M89I|FOLH1_uc009yly.3_Missense_Mutation_p.V675I|FOLH1_uc009ylz.3_Missense_Mutation_p.V644I|FOLH1_uc001ngz.3_Missense_Mutation_p.V659I|FOLH1_uc009yma.3_Missense_Mutation_p.V382I	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	690					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GCATAGATGACATGCCTGTTG	0.408000														75			15		0	0	0.000878237	0	0
ZNF423	23090	broad.mit.edu	37	16	49672281	49672281	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr16:49672281T>C	uc002efs.3	-	4	1080	c.782A>G	c.(781-783)gAc>gGc	p.D261G	ZNF423_uc010vgn.2_Missense_Mutation_p.D144G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	261					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CATGAAGTCGTCCTTCTTGGC	0.607000														19			9		0	0	0.000274275	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554431	140554431	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:140554431G>A	uc003lit.3	+	0	2189	c.2015G>A	c.(2014-2016)cGg>cAg	p.R672Q	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	672					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCGGCTCCCGGAG	0.692000														55			8		0	0	0.000274275	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47592647	47592647	+	Silent	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr20:47592647C>T	uc002xtx.4	+	13	2021	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	623					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCACAGTGTCCTCGGGGACCC	0.537000														36			8		0	0	0.000274275	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	C	C	rs139671425	by1000genomes	TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:39240627T>C	uc010wfn.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S57P(6)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000														31			5		0	0	8.12818e-05	0	0
DZIP3	9666	broad.mit.edu	37	3	108363492	108363492	+	Silent	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:108363492G>A	uc003dxd.3	+	13	2045	c.1623G>A	c.(1621-1623)ggG>ggA	p.G541G	DZIP3_uc003dxf.1_Silent_p.G541G|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.G541G|DZIP3_uc003dxg.1_Silent_p.G264G	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	541					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGCGCCTTGGGATGATGCAAG	0.408000														54			23		0	0	0.000229342	0	0
EVPL	2125	broad.mit.edu	37	17	74005670	74005670	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:74005670T>C	uc010wss.1	-	21	3910	c.3682A>G	c.(3682-3684)Aca>Gca	p.T1228A	EVPL_uc002jqi.2_Missense_Mutation_p.T1206A|EVPL_uc010wst.1_Missense_Mutation_p.T676A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1206	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCTGCTCTGTCTCCGGATCC	0.622000														122			11		0	0	0.000673444	0	0
ZNF716	441234	broad.mit.edu	37	7	57522874	57522874	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:57522874G>T	uc011kdi.1	+	3	374	c.262_splice	c.e3+1	p.V88_splice		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAACACCCAGGTAGGTGAGA	0.453000														87			14		0.000308642	0.00952883	0.000308642	1	0
OVCH2	341277	broad.mit.edu	37	11	7721843	7721843	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:7721843C>G	uc010rbf.2	-	7	901	c.901_splice	c.e7+1	p.G301_splice		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GCTTAGTTACCAGTTTGGATG	0.488000														18			13		0	0	0.00074312	0	0
CEL	1056	broad.mit.edu	37	9	135946427	135946427	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr9:135946427C>T	uc010naa.1	+	10	1563	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	513					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCTACACTACGGAAAACAGC	0.607000														70			9		0	0	0.000151284	0	0
CTSC	1075	broad.mit.edu	37	11	88029397	88029398	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:88029397_88029398CC>AA	uc001pck.4	-	5	893_894	c.792_793GG>TT	c.(790-795)atgggt>atTTgt	p.264_265MG>IC	CTSC_uc001pcl.4_Missense_Mutation_p.116_117MG>IC	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	264					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTAGCATACCCATAGAAGCAA	0.446000														768			13		0	0	6.4e-05	0	0
ANK3	288	broad.mit.edu	37	10	62023637	62023637	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr10:62023637C>T	uc001jky.3	-	5	993	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	ANK3_uc010qih.2_Missense_Mutation_p.A202T|ANK3_uc001jkz.4_Missense_Mutation_p.A213T|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	219					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGCAGCAGGGCGGCGGCTTTC	0.547000														27			13		0	0	0.000566183	0	0
MLL2	8085	broad.mit.edu	37	12	49421853	49421853	+	Silent	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:49421853C>T	uc001rta.4	-	45	14454	c.14454G>A	c.(14452-14454)ctG>ctA	p.L4818L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4818					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCTCTGGGAACAGCACCTCAT	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				36			7		0	0	0.000157383	0	0
PPAP2C	8612	broad.mit.edu	37	19	287703	287703	+	Missense_Mutation	SNP	G	A	A	rs61745392	byFrequency	TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:287703G>A	uc002loh.3	-	2	419	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	PPAP2C_uc002loi.3_Missense_Mutation_p.R85C|PPAP2C_uc002loj.3_Missense_Mutation_p.R29C	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	85					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCCGAGCGAGAATAGAGC	0.622000														137			88		0	0	0.000781405	0	0
CCDC81	60494	broad.mit.edu	37	11	86131054	86131054	+	Silent	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:86131054G>A	uc001pbx.2	+	13	2204	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	CCDC81_uc001pbw.2_Silent_p.A502A|CCDC81_uc010rtq.2_Silent_p.A375A|CCDC81_uc001pby.2_Silent_p.A327A	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	592										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGAGTGCTGCGATGAAGAAGC	0.512000														862			41		0	0	0.000437636	0	0
TUBB6	84617	broad.mit.edu	37	18	12308734	12308734	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr18:12308734T>C	uc002kqw.3	+	1	141	c.106T>C	c.(106-108)Tac>Cac	p.Y36H	TUBB6_uc002kqv.3_5'UTR|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Missense_Mutation_p.Y36H	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	36					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GGCCGGAGGCTACGTGGGAGA	0.652000														73			15		0	0	0.000958276	0	0
DIS3	22894	broad.mit.edu	37	13	73350130	73350130	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr13:73350130C>G	uc001vix.4	-	4	1129	c.755G>C	c.(754-756)aGa>aCa	p.R252T	DIS3_uc001viy.4_Missense_Mutation_p.R222T|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	252					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCTGCTAGCTCTAAATGTTCC	0.328000										Multiple Myeloma(4;0.011)				34			31		0	0	0.000409698	0	0
MYO7A	4647	broad.mit.edu	37	11	76867771	76867771	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:76867771G>C	uc001oyb.2	+	5	808	c.536G>C	c.(535-537)aGt>aCt	p.S179T	MYO7A_uc010rsl.2_Missense_Mutation_p.S179T|MYO7A_uc010rsm.1_Missense_Mutation_p.S168T|MYO7A_uc001oyc.2_Missense_Mutation_p.S179T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	179	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGCCATCAGTGGGCAGCAC	0.627000														903			11		0	0	0.00010058	0	0
MLLT4	4301	broad.mit.edu	37	6	168281157	168281157	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr6:168281157G>T	uc021zik.1	+	5	1053	c.734G>T	c.(733-735)gGt>gTt	p.G245V	MLLT4_uc003qwb.1_Missense_Mutation_p.G285V|MLLT4_uc003qwc.2_Missense_Mutation_p.G286V|MLLT4_uc021zij.1_Missense_Mutation_p.G285V|MLLT4_uc003qwf.3_5'UTR	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	286					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGAAGTATGGTCTGGAAAAA	0.383000			T	MLL	AL									108			45		5.73435e-26	1.96987e-24	0.000781405	1	0
EEFSEC	60678	broad.mit.edu	37	3	127965854	127965854	+	Silent	SNP	C	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:127965854C>A	uc003eki.3	+	1	530	c.492C>A	c.(490-492)acC>acA	p.T164T		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	164						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.T164A(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ATAAAATGACCAAGAAAATGC	0.463000														136			7		0.000157383	0.00498517	0.000157383	1	0
JOSD2	126119	broad.mit.edu	37	19	51013582	51013582	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:51013582T>G	uc002psn.1	-	1	138	c.107A>C	c.(106-108)cAg>cCg	p.Q36P	JOSD2_uc002psp.1_Missense_Mutation_p.Q36P|JOSD2_uc002pso.1_Missense_Mutation_p.Q36P|JOSD2_uc002psq.1_Missense_Mutation_p.Q36P	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	36	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		GCTAAAGAGCTGCTGCTGCAG	0.662000														62			16		0	0	0.000566183	0	0
BRIP1	83990	broad.mit.edu	37	17	59871040	59871040	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:59871040G>C	uc002izk.2	-	9	1697	c.1391C>G	c.(1390-1392)gCt>gGt	p.A464G		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	464					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TATTTTACAAGCTGATTCATA	0.333000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						18			8		0	0	0.000157383	0	0
CD163	9332	broad.mit.edu	37	12	7653993	7653993	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:7653993T>C	uc001qsz.3	-	2	327	c.199A>G	c.(199-201)Aaa>Gaa	p.K67E	CD163_uc001qta.3_Missense_Mutation_p.K67E|CD163_uc009zfw.2_Missense_Mutation_p.K67E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	67	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTGGACTTTCACTTCCACT	0.498000														53			30		0	0	0.000339439	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770658	25770658	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr6:25770658C>A	uc003nfe.3	+	4	697	c.578C>A	c.(577-579)cCc>cAc	p.P193H	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.3_Missense_Mutation_p.P130H	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	193					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAATGGGCTCCCCCACTGGAA	0.458000														132			21		7.41877e-09	2.51311e-07	0.000229342	1	0
NOS1	4842	broad.mit.edu	37	12	117749303	117749303	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:117749303C>T	uc001twn.2	-	2	1531	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	NOS1_uc021reo.1_5'Flank|NOS1_uc001twm.2_Missense_Mutation_p.V274I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	274					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.V273V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGTTGAGGACGACAGGCACA	0.557000														19			7		0	0	0.000157383	0	0
OR2A5	393046	broad.mit.edu	37	7	143747506	143747506	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:143747506T>A	uc011ktw.2	+	0	12	c.12T>A	c.(10-12)aaT>aaA	p.N4K		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGACAAAAAATCAGACATGGG	0.478000														65			17		0	0	0.000132079	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44751268	44751268	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr15:44751268G>A	uc001ztr.3	+	1	472	c.56G>A	c.(55-57)cGc>cAc	p.R19H	CTDSPL2_uc001zts.3_Missense_Mutation_p.R19H|CTDSPL2_uc001ztt.3_Missense_Mutation_p.R19H|CTDSPL2_uc010bdv.3_Missense_Mutation_p.R19H	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA.	19							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CAAACACAACGCACTGCCAGA	0.403000														42			31		0	0	0.000339439	0	0
DPPA2	151871	broad.mit.edu	37	3	109033385	109033385	+	Nonsense_Mutation	SNP	G	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:109033385G>C	uc003dxo.3	-	1	252	c.5C>G	c.(4-6)tCa>tGa	p.S2*		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	2						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTGCATCTGACATTTTCAG	0.378000														14			16		0	0	0.000132079	0	0
LCN15	389812	broad.mit.edu	37	9	139658430	139658430	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr9:139658430G>T	uc004cjd.3	-	1	153	c.128C>A	c.(127-129)gCa>gAa	p.A43E		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	Homo sapiens lipocalin 15 (LCN15), mRNA.	43					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						GCAGTCAGATGCCATGGAGAC	0.657000														59			13		0.00010058	0.00322782	0.00010058	1	0
NDUFAF2	91942	broad.mit.edu	37	5	60369037	60369037	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:60369037G>A	uc003jsp.4	+	1	340	c.213G>A	c.(211-213)tgG>tgA	p.W71*	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	71						membrane|mitochondrion	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			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)				CAACAGAATGGGAAGGTAAGT	0.318000														132			82		0	0	0.000781405	0	0
PLSCR4	57088	broad.mit.edu	37	3	145917809	145917809	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:145917809T>C	uc010huy.3	-	5	744	c.415A>G	c.(415-417)Act>Gct	p.T139A	PLSCR4_uc010huz.3_Missense_Mutation_p.T139A|PLSCR4_uc003evt.4_Missense_Mutation_p.T139A|PLSCR4_uc010hva.3_Intron|PLSCR4_uc003evu.4_Intron	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	139					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity	p.E138V(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTATTATTAGTTTCAAAACAT	0.323000														8			11		0	0	0.000978159	0	0
LARP6	55323	broad.mit.edu	37	15	71124798	71124798	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr15:71124798C>T	uc002ass.3	-	2	1140	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	357					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTTGGTGGCCGCGTGCCGT	0.607000														66			6		0	0	8.12818e-05	0	0
DOCK7	85440	broad.mit.edu	37	1	62958387	62958387	+	Silent	SNP	A	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:62958387A>T	uc001daq.3	-	40	5356	c.5322T>A	c.(5320-5322)gcT>gcA	p.A1774A	DOCK7_uc001dan.3_Silent_p.A1635A|DOCK7_uc001dao.3_Silent_p.A1635A|DOCK7_uc001dap.3_Silent_p.A1752A|DOCK7_uc001dam.3_Silent_p.A954A|DOCK7_uc010oov.1_Silent_p.A513A	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1783	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TAGAGAAGGAAGCAGCTGCTT	0.408000														77			38		0	0	0.000374591	0	0
ZNF512	84450	broad.mit.edu	37	2	27826170	27826170	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr2:27826170G>A	uc002rla.3	+	8	1019	c.932G>A	c.(931-933)gGg>gAg	p.G311E	ZNF512_uc010ylw.2_Missense_Mutation_p.G282E|ZNF512_uc002rlb.3_Missense_Mutation_p.G232E|ZNF512_uc010ylx.2_Missense_Mutation_p.G232E|ZNF512_uc002rlc.3_Missense_Mutation_p.G232E|ZNF512_uc010ylv.2_Missense_Mutation_p.G232E|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.G204E	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TCAGAGCATGGGCCTGTGAGT	0.493000														82			21		0	0	0.00106085	0	0
MYH14	79784	broad.mit.edu	37	19	50735328	50735328	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:50735328G>C	uc010enu.1	+	10	1161	c.1114_splice	c.e10+1	p.S372_splice	MYH14_uc002prq.1_Splice_Site_p.S372_splice|MYH14_uc002prr.1_Splice_Site_p.S364_splice	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	364	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAATCATCTGTGAGTGAGCC	0.622000														26			9		0	0	0.000673444	0	0
MST1P2	11209	broad.mit.edu	37	1	16975994	16975994	+	RNA	SNP	T	C	C	rs2261801	by1000genomes	TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:16975994T>C	uc010och.2	+	10		c.2016T>C			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTCAGGCTCTCAGCTTGTCC	0.597000														23			3		0	0	0.000602214	0	0
NLRP2	55655	broad.mit.edu	37	19	55495050	55495050	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:55495050C>A	uc021vbq.1	+	5	2095	c.1984C>A	c.(1984-1986)Ctc>Atc	p.L662I	NLRP2_uc010yfp.2_Missense_Mutation_p.L639I|NLRP2_uc002qij.3_Missense_Mutation_p.L662I|NLRP2_uc010esp.3_Missense_Mutation_p.L640I|NLRP2_uc010esn.3_Missense_Mutation_p.L638I|NLRP2_uc010eso.3_Missense_Mutation_p.L659I	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	662					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAAGGAGAATCTCCCGGAGAA	0.493000														22			8		1.06961e-07	3.57368e-06	0.000157383	1	0
PGK2	5232	broad.mit.edu	37	6	49754466	49754466	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr6:49754466A>T	uc003ozu.3	-	0	588	c.435T>A	c.(433-435)gaT>gaA	p.D145E		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	145					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTTCTATTTTATCTGGCTCAG	0.507000														50			41		0	0	0.000509022	0	0
ODF3	113746	broad.mit.edu	37	11	197726	197726	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:197726G>A	uc001lob.3	+	2	569	c.275G>A	c.(274-276)cGc>cAc	p.R92H	ODF3_uc010qvk.2_Missense_Mutation_p.R92H|ODF3_uc001loc.3_Missense_Mutation_p.R92H	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	92					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCTGGGGCGCTACCAAACC	0.622000														24			16		0	0	0.000175454	0	0
CDHR2	54825	broad.mit.edu	37	5	176005428	176005428	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:176005428T>C	uc021yie.1	+	15	1911	c.1637T>C	c.(1636-1638)cTg>cCg	p.L546P	CDHR2_uc003mem.2_Missense_Mutation_p.L546P|CDHR2_uc003men.1_Missense_Mutation_p.L546P	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	546	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGTGAGCTGCTGGACCGGGAG	0.622000														24			4		0	0	0.000602214	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800473	32800473	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:32800473A>G	uc001bvd.3	-	1	513	c.313T>C	c.(313-315)Ttc>Ctc	p.F105L		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	105						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTCTCTTGAAGGACAGGCCG	0.582000														80			15		0	0	0.000308642	0	0
PLCH1	23007	broad.mit.edu	37	3	155199621	155199621	+	Silent	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:155199621G>A	uc021xge.1	-	22	4495	c.4218C>T	c.(4216-4218)aaC>aaT	p.N1406N	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.N1368N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1406					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACAGTAGCCGTTTCTCAAAC	0.413000														18			39		0	0	0.000589545	0	0
CREB3L2	64764	broad.mit.edu	37	7	137612996	137612996	+	Silent	SNP	C	T	T	rs146953741	byFrequency	TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:137612996C>T	uc003vtw.3	-	1	615	c.219G>A	c.(217-219)ccG>ccA	p.P73P	CREB3L2_uc003vtx.2_Silent_p.P73P|CREB3L2_uc003vty.4_Silent_p.P73P|CREB3L2_uc003vtv.3_Silent_p.P10P	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	73					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGAGGCGCCGGGGACGTCG	0.577000			T	FUS	fibromyxoid sarcoma									12			12		0	0	0.00010058	0	0
AP2M1	1173	broad.mit.edu	37	3	183898715	183898715	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:183898715C>T	uc021xig.1	+	4	551	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	AP2M1_uc003fmw.3_Missense_Mutation_p.R168W|AP2M1_uc021xif.1_5'UTR|AP2M1_uc011bqy.2_Missense_Mutation_p.R40W|AP2M1_uc011bqz.2_5'UTR	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	170	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGTATCGTCGGAATGAGCT	0.552000														70			34		0	0	0.000953801	0	0
MYO5A	4644	broad.mit.edu	37	15	52697566	52697566	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr15:52697566C>G	uc002aby.2	-	8	1215	c.971G>C	c.(970-972)gGa>gCa	p.G324A	MYO5A_uc002abx.3_Missense_Mutation_p.G324A|MYO5A_uc010uge.1_Missense_Mutation_p.G193A	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	324	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCGGAAAATTCCCATTTGATG	0.368000														297			51		0	0	0.000781405	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499855	104499855	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr9:104499855T>C	uc004bbp.2	-	0	1008	c.407A>G	c.(406-408)aAc>aGc	p.N136S	GRIN3A_uc004bbq.1_Missense_Mutation_p.N136S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	136					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTCCACGCGGTTCAGGTTGTC	0.672000														10			3		0	0	0.000602214	0	0
NLRP3	114548	broad.mit.edu	37	1	247593035	247593035	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:247593035G>A	uc001icr.3	+	5	2443	c.2305G>A	c.(2305-2307)Ggc>Agc	p.G769S	NLRP3_uc001ics.3_Missense_Mutation_p.G769S|NLRP3_uc001icu.3_Missense_Mutation_p.G769S|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Missense_Mutation_p.G767S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	769					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCAGCATCCTGGCTGTAACAT	0.498000														40			12		0	0	0.000219431	0	0
NOTCH2	4853	broad.mit.edu	37	1	120471704	120471705	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:120471704_120471705CC>AA	uc001eik.3	-	22	4083_4084	c.3786_3787GG>TT	c.(3784-3789)gaggga>gaTTga	p.1262_1263EG>D*		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1262	EGF-like 32; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATGTCTCCCTCACAACGCT	0.569000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					527			12		0	0	6.4e-05	0	0
SKA3	221150	broad.mit.edu	37	13	21729945	21729945	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr13:21729945T>A	uc001unt.3	-	7	1250	c.1125A>T	c.(1123-1125)ttA>ttT	p.L375F	SKA3_uc001unu.3_Intron|SKA3_uc001unv.3_Missense_Mutation_p.L293F	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	375					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTATTTTGATAAAAGCTAAA	0.328000														89			11		0	0	0.000566183	0	0
LPA	4018	broad.mit.edu	37	6	160969513	160969513	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr6:160969513G>A	uc003qtl.3	-	31	5272	c.5152C>T	c.(5152-5154)Caa>Taa	p.Q1718*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4226	Kringle 15.				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			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)	TTCTTACCTTGTTCAGAAGGA	0.512000														26			11		0	0	0.00010058	0	0
CRB1	23418	broad.mit.edu	37	1	197396945	197396945	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:197396945C>G	uc001gtz.3	+	6	2699	c.2490C>G	c.(2488-2490)atC>atG	p.I830M	CRB1_uc010poz.2_Missense_Mutation_p.I761M|CRB1_uc009wza.3_Missense_Mutation_p.I718M|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.I311M|CRB1_uc001gub.1_Missense_Mutation_p.I479M	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	830	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAGATGTCATCTACATTGGTG	0.373000														38			9		0	0	0.000274275	0	0
ACOXL	55289	broad.mit.edu	37	2	111789223	111789224	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr2:111789223_111789224insT	uc010yxk.1	+	14	1525_1526	c.1301_1302insT	c.(1300-1302)gatfs	p.D434fs	ACOXL_uc021vmm.1_Frame_Shift_Ins_p.D287fs|ACOXL_uc021vmn.1_Frame_Shift_Ins_p.D257fs	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	464					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AAGAAGGAGGATTTTTTCCATG	0.450													---	76	---	---	16	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	GCC	GCC	rs35336557		TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:112824048_112824049insGCC	uc003kql.4	-	0	479_480	c.63_64insGGC	c.(61-66)insGGC	p.21_22insG		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	549					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.S22*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													---	7	---	---	6	---					
PPFIBP2	8495	broad.mit.edu	37	11	7672899	7672899	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:7672899delC	uc001mfj.4	+	22	2648	c.2260delC	c.(2260-2262)cgcfs	p.R754fs	PPFIBP2_uc010rbb.1_Frame_Shift_Del_p.R677fs|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Frame_Shift_Del_p.R688fs|PPFIBP2_uc010rbe.2_Frame_Shift_Del_p.R642fs|PPFIBP2_uc001mfl.4_Frame_Shift_Del_p.R611fs|PPFIBP2_uc009yfj.1_Frame_Shift_Del_p.R398fs	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	754	SAM 3.			R -> L (in Ref. 4; AAC26104).	DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding	p.R754C(2)|p.P753S(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTGGAGCCACGCTTCACTGG	0.572													---	41	---	---	26	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	204	---	---	10	---					
HERC1	8925	broad.mit.edu	37	15	63970383	63970384	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr15:63970383_63970384insT	uc002amp.3	-	36	6878_6879	c.6730_6731insA	c.(6730-6732)attfs	p.I2244fs		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2244					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATATCTTAATTTTGTGAAGC	0.436													---	78	---	---	8	---					
PLIN1	5346	broad.mit.edu	37	15	90209096	90209097	+	In_Frame_Ins	INS	-	CGG	CGG			TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr15:90209096_90209097insCGG	uc010upx.1	-	8	1396_1397	c.1286_1287insCCG	c.(1285-1287)cgg>cgCCGg	p.429_429R>RR	PLIN1_uc002boh.2_In_Frame_Ins_p.429_429R>RR	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	429					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GCTCCGCCTCCCGGCGCTCGAC	0.762													---	8	---	---	6	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-ER-A19T-06A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f98d326-5676-4257-9af8-0a5f5d3c2527	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	4	---	---	3	---