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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SPEG	10290	broad.mit.edu	37	2	220355624	220355624	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:220355624A>C	ENST00000312358.7	+	38	9463	c.9331A>C	c.(9331-9333)Aac>Cac	p.N3111H	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3111	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGCCCTACAACCCCCAGGC	0.657000													6	37					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698498	49698498	+	Nonsense_Mutation	SNP	G	G	T	rs147485557	byFrequency	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr3:49698498G>T	ENST00000296452.4	+	6	9334	c.9220G>T	c.(9220-9222)Gga>Tga	p.G3074*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3074					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AACTCAGAACGGATTCCCAGC	0.667000													9	28					0.000978159	0.00104458	1	1	0
JAK2	3717	broad.mit.edu	37	9	5080377	5080377	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:5080377A>T	ENST00000381652.3	+	17	2774	c.2280A>T	c.(2278-2280)caA>caT	p.Q760H	AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.Q760H|JAK2_ENST00000544510.1_Missense_Mutation_p.Q611H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	760	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGATTCTCAAAGAGTAAGTT	0.318000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				76	86					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165232	3165232	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:3165232G>T	ENST00000520002.1	-	26	4493	c.3938C>A	c.(3937-3939)cCa>cAa	p.P1313Q	CSMD1_ENST00000602723.1_Missense_Mutation_p.P1313Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1313Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1313Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1312Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1312Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1312Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1313	CUB 8.					integral to membrane				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)		GGTCTTTCCTGGGTCTGCCTC	0.438000													28	139					4.40665e-25	6.35291e-25	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25458823	25458823	+	RNA	SNP	C	C	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr15:25458823C>G	ENST00000424208.1	+	0	2694				SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TTATATTGTTCTGAAGAGAGG	0.498000													56	98					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714181	70714181	+	RNA	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr14:70714181C>A	ENST00000530196.1	-	0	337					NR_003951.1																						GTCCCCAAACCGCAGACTATA	0.522000													12	45					3.32936e-07	3.91823e-07	1	1	0
ANO3	63982	broad.mit.edu	37	11	26552859	26552859	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr11:26552859C>A	ENST00000256737.3	+	8	1697	c.845C>A	c.(844-846)cCc>cAc	p.P282H	ANO3_ENST00000537978.1_Missense_Mutation_p.P266H|ANO3_ENST00000525139.1_Missense_Mutation_p.P266H|ANO3_ENST00000531568.1_Missense_Mutation_p.P136H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	282						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TATACTGGCCCCTTCAGCCGT	0.443000													44	49					5.2432e-18	6.92423e-18	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147183026	147183026	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:147183026G>T	ENST00000361727.3	+	11	2186		c.e11-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTCTGACAGATGTGTGCCC	0.453000										HNSCC(39;0.1)			37	84					2.75727e-19	3.72663e-19	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150164040	150164040	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:150164040A>G	ENST00000307271.3	+	2	828	c.254A>G	c.(253-255)cAc>cGc	p.H85R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	85						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AACATCCAACACTGCTTGGAG	0.512000													36	105					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96704897	96704897	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:96704897T>C	ENST00000261211.3	-	5	1079	c.476A>G	c.(475-477)gAa>gGa	p.E159G	CDK17_ENST00000542666.1_Missense_Mutation_p.E106G|CDK17_ENST00000543119.2_Missense_Mutation_p.E159G	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	159							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CTGCAACTTTTCAAGATATCC	0.383000													20	71					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959272	53959272	+	RNA	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:53959272G>T	ENST00000454407.1	+	0	1964							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAGACCTTTAGTCGGAAGTCA	0.413000													5	119					1	1	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	RNA	SNP	C	C	T	rs12561805	by1000genomes	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:17017734C>T	ENST00000492551.1	-	0	1993					NR_026567.1																						CAGCTTCTTCCGCAGGAGGTC	0.647000													3	30					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848883	73848883	+	Silent	SNP	G	G	A	rs137972887		TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:73848883G>A	ENST00000523207.1	+	3	1881	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	431					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			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)			AACGCCAAGAGAAAGCAATTA	0.443000													92	231					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702133	30702133	+	Silent	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:30702133C>T	ENST00000256246.2	-	1	4475	c.4401G>A	c.(4399-4401)gcG>gcA	p.A1467A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1467										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGCTTTTTCCGCTTGTTTAA	0.343000													18	52					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14854557	14854557	+	Silent	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:14854557C>A	ENST00000315576.3	-	19	2674	c.2223G>T	c.(2221-2223)ctG>ctT	p.L741L	EMR2_ENST00000601345.1_Silent_p.L730L|EMR2_ENST00000596991.2_Silent_p.L730L|EMR2_ENST00000594294.1_Silent_p.L692L|EMR2_ENST00000346057.1_Silent_p.L692L|EMR2_ENST00000595839.1_Silent_p.L599L|EMR2_ENST00000353005.1_Silent_p.L599L|EMR2_ENST00000392965.3_Silent_p.L683L|EMR2_ENST00000392967.2_Silent_p.L730L|EMR2_ENST00000594076.1_Silent_p.L648L|EMR2_ENST00000353876.1_Silent_p.L648L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	741					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ACGTGCAGCCCAGGATGAACA	0.542000													24	40					2.98393e-07	3.53575e-07	1	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045372	142045372	+	RNA	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:142045372A>G	ENST00000390392.3	+	0	121																											CATGGGCTGCAGGCTGCTCTG	0.562000													11	144					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875410	36875410	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr3:36875410C>A	ENST00000301807.6	-	21	5779	c.3881_splice	c.e21-1	p.K1294_splice	TRANK1_ENST00000428977.2_Splice_Site_p.K1294_splice|TRANK1_ENST00000429976.2_Splice_Site_p.K1844_splice	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1844					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTCTTCATACCTGCAAAGAC	0.403000													9	16					0.000274275	0.000300314	1	1	0
HUNK	30811	broad.mit.edu	37	21	33340621	33340621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr21:33340621C>T	ENST00000270112.2	+	6	1294	c.934C>T	c.(934-936)Cag>Tag	p.Q312*		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	312	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCCAAATATTCAGCAGGCACT	0.512000													13	62					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1155707	1155707	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr11:1155707C>A	ENST00000356191.2	+	5	393	c.393C>A	c.(391-393)caC>caA	p.H131Q						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCGGCCCCCACGCTGAGCAGG	0.632000													14	9					4.3838e-07	5.08992e-07	1	1	0
UBE3A	7337	broad.mit.edu	37	15	25616291	25616291	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr15:25616291T>G	ENST00000232165.3	-	6	1686	c.1030A>C	c.(1030-1032)Att>Ctt	p.I344L	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.I347L|UBE3A_ENST00000428984.2_Missense_Mutation_p.I324L|UBE3A_ENST00000438097.1_Missense_Mutation_p.I324L|UBE3A_ENST00000566215.1_Missense_Mutation_p.I324L	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	347					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTATAAGTAATAAGTTGCTGA	0.393000													27	66					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985173	240985173	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:240985173G>A	ENST00000319423.4	-	1	316	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GCACACCAGGGAGCTGAAGAA	0.612000													18	31					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875411	36875411	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr3:36875411C>T	ENST00000301807.6	-	21	5779		c.e21-1		TRANK1_ENST00000428977.2_Splice_Site|TRANK1_ENST00000429976.2_Splice_Site	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1						DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTTCATACCTGCAAAGACA	0.403000													9	16					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952085	196952085	+	Silent	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:196952085C>T	ENST00000367414.5	+	2	257	c.201C>T	c.(199-201)tcC>tcT	p.S67S	CFHR5_ENST00000256785.4_Silent_p.S43S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	43	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCCTTTTTCCCAAGTTCCTA	0.348000													19	81					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7012481	7012481	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr4:7012481G>A	ENST00000409757.4	+	11	1744	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	TBC1D14_ENST00000451522.2_Missense_Mutation_p.M260I|TBC1D14_ENST00000410031.1_Missense_Mutation_p.M312I|TBC1D14_ENST00000448507.1_Missense_Mutation_p.M540I|TBC1D14_ENST00000446947.2_Missense_Mutation_p.M187I	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	540	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCTGTCAAATGGCGTTTTTTA	0.443000													45	90					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	78001629	78001629	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:78001629A>T	ENST00000344720.5	+	13	2474	c.1448A>T	c.(1447-1449)gAc>gTc	p.D483V	AK5_ENST00000354567.2_Missense_Mutation_p.D509V|AK5_ENST00000478255.1_Missense_Mutation_p.D24V	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	509					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCTGTGGACGACACCACCAAG	0.572000													8	26					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735524	30735524	+	Silent	SNP	A	A	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:30735524A>C	ENST00000262518.4	+	25	5164	c.4779A>C	c.(4777-4779)ccA>ccC	p.P1593P	SRCAP_ENST00000344771.4_Silent_p.P1435P|SRCAP_ENST00000395059.2_Silent_p.P1531P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1593	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGCGGCTCCACAGACAGCAA	0.602000													12	76					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21299711	21299711	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:21299711G>A	ENST00000596143.1	+	5	566	c.241G>A	c.(241-243)Gag>Aag	p.E81K	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATGTGAACATGAGAATTTACA	0.383000													11	26					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	by1000genomes	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1																						CCAGCCTTCTGTAACCCAGTA	0.428000													4	30					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41765594	41765594	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:41765594A>G	ENST00000301178.4	+	20	2660	c.2470A>G	c.(2470-2472)Atg>Gtg	p.M824V	AXL_ENST00000359092.3_Missense_Mutation_p.M815V|AXL_ENST00000593513.1_Missense_Mutation_p.M556V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	824						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTATGTCAACATGGATGAGGG	0.577000													14	39					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144669022	144669022	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:144669022G>A	ENST00000532741.1	-	2	1470	c.1241_splice	c.e2-1	p.N414_splice	EEF1D_ENST00000423316.2_Splice_Site_p.N364_splice|EEF1D_ENST00000317198.6_5'UTR|EEF1D_ENST00000524624.1_5'UTR|EEF1D_ENST00000526838.1_5'UTR|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Splice_Site_p.N364_splice|EEF1D_ENST00000532400.1_5'UTR|EEF1D_ENST00000395119.3_5'UTR|EEF1D_ENST00000528610.1_5'UTR|EEF1D_ENST00000531621.1_5'UTR			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCATTTTTCTGCTGGGAGGGG	0.537000													46	87					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725148	140725148	+	Silent	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:140725148G>T	ENST00000253812.6	+	1	1548	c.1548G>T	c.(1546-1548)gcG>gcT	p.A516A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTATACGCGCTGAGATCCT	0.562000													37	71					2.09667e-21	2.92519e-21	1	1	0
NALCN	259232	broad.mit.edu	37	13	101742240	101742240	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr13:101742240C>A	ENST00000251127.6	-	29	3428	c.3347G>T	c.(3346-3348)gGc>gTc	p.G1116V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1116						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCCACCCAGCCTTTCAAGGA	0.453000													104	181					2.44874e-31	3.652e-31	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18684407	18684407	+	Silent	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:18684407C>A	ENST00000406451.3	+	9	1167	c.1017C>A	c.(1015-1017)tcC>tcA	p.S339S	HDAC9_ENST00000441542.2_Silent_p.S342S|HDAC9_ENST00000432645.2_Silent_p.S339S|HDAC9_ENST00000456174.2_Silent_p.S311S|HDAC9_ENST00000401921.1_Silent_p.S298S|HDAC9_ENST00000417496.2_Silent_p.S337S|HDAC9_ENST00000524023.1_Silent_p.S262S|HDAC9_ENST00000428307.2_Silent_p.S295S|HDAC9_ENST00000405010.3_Silent_p.S339S|HDAC9_ENST00000406072.1_Silent_p.S326S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	339	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGTGCCATCCCAGCTCAATG	0.418000													9	30					2.17888e-05	2.4637e-05	1	1	0
NBN	4683	broad.mit.edu	37	8	90993642	90993642	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:90993642C>A	ENST00000265433.3	-	3	435	c.281G>T	c.(280-282)gGg>gTg	p.G94V	NBN_ENST00000409330.1_Missense_Mutation_p.G12V	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	94					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATACCATCCCCCGACTTCAA	0.338000								Homologous recombination					71	145					3.4779e-39	5.27786e-39	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93753493	93753493	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr10:93753493G>T	ENST00000265990.6	+	22	3396	c.3088G>T	c.(3088-3090)Gct>Tct	p.A1030S		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1030					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			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)				AGCTGAATTTGCTTTGACAAC	0.373000													14	25					4.3838e-07	5.08992e-07	1	1	0
CYP4F8	11283	broad.mit.edu	37	19	15726455	15726455	+	RNA	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:15726455G>T	ENST00000441682.2	+	0	92							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GTCTTGGCTGGGCCTCAGGCC	0.667000													4	26					0.00909568	0.00947923	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119858331	119858331	+	Missense_Mutation	SNP	C	C	T	rs149596951		TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:119858331C>T	ENST00000313400.4	-	5	1368	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	ASTN2_ENST00000361209.2_Missense_Mutation_p.R372H|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R423H			O75129	ASTN2_HUMAN	astrotactin 2	423						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCTTTGCTGCGGCGGCGACT	0.498000													11	27					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487517	63487517	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr11:63487517G>A	ENST00000377819.5	+	3	1697	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E403K|RTN3_ENST00000339997.4_Missense_Mutation_p.E496K	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	515					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TACATCATTTGAAAATAACAA	0.408000													4	55					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205038964	205038964	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:205038964C>T	ENST00000331830.4	+	18	2490	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	736	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCATGTCACGGGAGTACCA	0.677000													22	179					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55929398	55929398	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr6:55929398C>A	ENST00000244728.5	-	24	2547	c.2150G>T	c.(2149-2151)aGa>aTa	p.R717I	COL21A1_ENST00000535941.1_Missense_Mutation_p.R717I|COL21A1_ENST00000370819.1_Missense_Mutation_p.R714I|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.R117I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	717	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AATTCCCTGTCTTCCATTTTC	0.328000													5	2					0.000602214	0.0006471	1	1	0
INTS1	26173	broad.mit.edu	37	7	1513272	1513272	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:1513272T>C	ENST00000389470.4	-	43	6498	c.6499A>G	c.(6499-6501)Atc>Gtc	p.I2167V	INTS1_ENST00000404767.3_Missense_Mutation_p.I1963V			Q8N201	INT1_HUMAN	integrator complex subunit 1	1963					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TACTTATGGATGAACTGCACA	0.577000											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	8					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33509133	33509133	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:33509133G>T	ENST00000360596.2	+	11	1489	c.1277_splice	c.e11-1	p.K426_splice	ACSS2_ENST00000253382.5_Splice_Site_p.K439_splice|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Splice_Site_p.K376_splice	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	426					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTGCCCCAGGCATAGCCGGG	0.587000													22	54					1.22574e-08	1.49333e-08	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21908534	21908534	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:21908534A>C	ENST00000328843.6	+	74	11944	c.11913A>C	c.(11911-11913)ttA>ttC	p.L3971F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L3964F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3971	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGTGTCTTTAGGACAAGGTC	0.478000									Kartagener syndrome				34	59					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5336798	5336798	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:5336798A>G	ENST00000396872.2	+	7	1012	c.851A>G	c.(850-852)cAc>cGc	p.H284R	SLC29A4_ENST00000297195.4_Missense_Mutation_p.H284R|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H270R	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	284					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.H284L(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TACCGCGTGCACCACGACGTT	0.662000													9	16					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212563	8212563	+	Silent	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:8212563G>T	ENST00000307637.4	-	2	422	c.219C>A	c.(217-219)ctC>ctA	p.L73L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	73					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGGCAAGGAGAGGCAGCAGA	0.587000													13	41					4.36969e-10	5.43854e-10	1	1	0
ACVR1B	91	broad.mit.edu	37	12	52387839	52387839	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:52387839T>C	ENST00000257963.4	+	9	1540	c.1463T>C	c.(1462-1464)cTg>cCg	p.L488P	ACVR1B_ENST00000541224.1_Missense_Mutation_p.L529P|ACVR1B_ENST00000542485.1_Missense_Mutation_p.L436P	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	488	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTGACGGCCCTGCGCATCAAG	0.617000													12	109					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168408	142168408	+	RNA	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:142168408C>A	ENST00000454561.2	-	0	515																											GATACAGGGCCGAGTCGTCCA	0.512000													27	87					2.09667e-21	2.92519e-21	1	1	0
MUC6	4588	broad.mit.edu	37	11	1017471	1017471	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr11:1017471C>A	ENST00000421673.2	-	31	5380	c.5330G>T	c.(5329-5331)gGc>gTc	p.G1777V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1777	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTTCTGGTGCCTGTACTGGT	0.572000													28	475					8.58068e-18	1.12459e-17	1	1	0
TRO	7216	broad.mit.edu	37	X	54951138	54951138	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chrX:54951138C>A	ENST00000173898.7	+	5	1489	c.1377C>A	c.(1375-1377)gaC>gaA	p.D459E	TRO_ENST00000399736.1_Missense_Mutation_p.D62E|TRO_ENST00000375022.4_Missense_Mutation_p.D459E|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000319167.8_Missense_Mutation_p.D459E|TRO_ENST00000420798.2_5'UTR|TRO_ENST00000375041.2_Missense_Mutation_p.D62E	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	459	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGTTAAGGACCAGACAAAGA	0.498000													15	9					0.00400662	0.00420089	1	1	0
BRCA2	675	broad.mit.edu	37	13	32913737	32913737	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr13:32913737T>C	ENST00000544455.1	+	11	5472	c.5245T>C	c.(5245-5247)Tat>Cat	p.Y1749H	BRCA2_ENST00000380152.3_Missense_Mutation_p.Y1749H	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1749					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCTAACAGCTATTCCTACCA	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			28	20					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20307982	20307982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:20307982C>T	ENST00000335117.8	+	4	520	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAAAATATTTCAATGTGGTAA	0.303000													13	39					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78910311	78910311	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:78910311G>C	ENST00000545128.1	+	26	3844	c.3306G>C	c.(3304-3306)gaG>gaC	p.E1102D		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	805					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGTGTGAAGAGGGCTTCTTTC	0.507000													4	14					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318132	176318132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:176318132C>T	ENST00000292432.5	-	4	411	c.320G>A	c.(319-321)tGg>tAg	p.W107*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	107	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGAGTCACCCACAAAACACG	0.602000													13	43					0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72006534	72006534	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:72006534G>T	ENST00000257515.8	+	11	1587	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H	FAM189A2_ENST00000455972.1_Missense_Mutation_p.Q389H|FAM189A2_ENST00000303068.7_Missense_Mutation_p.Q224H|FAM189A2_ENST00000377216.3_Missense_Mutation_p.Q176H|FAM189A2_ENST00000469179.1_3'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	389						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCCATTGCAGCCCAGCACAT	0.592000													6	40					0.0293803	0.0300757	1	1	0
NMT1	4836	broad.mit.edu	37	17	43176875	43176875	+	Silent	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr17:43176875G>A	ENST00000592782.1	+	9	1118	c.987G>A	c.(985-987)ctG>ctA	p.L329L	NMT1_ENST00000258960.2_Silent_p.L329L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	329					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCTACCGACTGCCAGAGGCCA	0.602000											OREG0024470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	34					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584535	30584535	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:30584535A>T	ENST00000217299.3	+	3	1189	c.1015A>T	c.(1015-1017)Atg>Ttg	p.M339L		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	339						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGTGCGTCATGACCTTCTG	0.567000													19	26					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3129109	3129109	+	Silent	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr4:3129109G>A	ENST00000355072.5	+	12	1666	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	507					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACTGCAGGCGGACTCAGTGG	0.582000													16	30					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927228	55927228	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr11:55927228C>A	ENST00000313447.1	-	1	565	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGCATTTGAGCAAAGCATAGG	0.348000													36	20					1.414e-09	1.7473e-09	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18324716	18324716	+	Silent	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr22:18324716G>T	ENST00000441493.2	-	20	3025	c.2673C>A	c.(2671-2673)atC>atA	p.I891I	MICAL3_ENST00000400561.2_Silent_p.I891I|MICAL3_ENST00000383094.3_Silent_p.I891I|MICAL3_ENST00000414725.2_Silent_p.I919I|MICAL3_ENST00000444520.1_Silent_p.I891I|MICAL3_ENST00000207726.7_Silent_p.I919I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	891	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCTCCAGCTCGATCCGCTCTG	0.647000													11	4					0.000151284	0.000168853	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139163766	139163766	+	Silent	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:139163766A>T	ENST00000395297.1	-	13	3122	c.2952T>A	c.(2950-2952)acT>acA	p.T984T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	984										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGGGCACACAGTGCCTGCTT	0.507000										HNSCC(54;0.14)			36	58					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906650	56906650	+	Silent	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:56906650C>A	ENST00000438926.2	+	8	1076	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P	SLC12A3_ENST00000566786.1_Silent_p.P348P|SLC12A3_ENST00000262502.5_Silent_p.P348P|SLC12A3_ENST00000563236.1_Silent_p.P349P	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	349			P -> L (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTTCTTCCCCTCGGCCACAG	0.567000													22	32					3.5997e-14	4.61295e-14	1	1	0
ACVR1B	91	broad.mit.edu	37	12	52387845	52387845	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:52387845T>G	ENST00000257963.4	+	9	1546	c.1469T>G	c.(1468-1470)aTc>aGc	p.I490S	ACVR1B_ENST00000541224.1_Missense_Mutation_p.I531S|ACVR1B_ENST00000542485.1_Missense_Mutation_p.I438S	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	490	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCCCTGCGCATCAAGAAGACC	0.612000													13	109					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7012482	7012482	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr4:7012482G>T	ENST00000409757.4	+	11	1745	c.1621G>T	c.(1621-1623)Gcg>Tcg	p.A541S	TBC1D14_ENST00000451522.2_Missense_Mutation_p.A261S|TBC1D14_ENST00000410031.1_Missense_Mutation_p.A313S|TBC1D14_ENST00000448507.1_Missense_Mutation_p.A541S|TBC1D14_ENST00000446947.2_Missense_Mutation_p.A188S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	541	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTGTCAAATGGCGTTTTTTAG	0.443000													44	90					1.57945e-13	2.00916e-13	1	1	0
GPC6	10082	broad.mit.edu	37	13	95055323	95055323	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr13:95055323C>A	ENST00000377047.4	+	9	2135	c.1520C>A	c.(1519-1521)cCc>cAc	p.P507H		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	507						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GACGTGTGTCCCACGGAGTTT	0.552000													37	91					6.53348e-20	8.89993e-20	1	1	0
NOL7	51406	broad.mit.edu	37	6	13615826	13615826	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr6:13615826A>T	ENST00000451315.2	+	1	268	c.236A>T	c.(235-237)gAg>gTg	p.E79V	AL441883.1_ENST00000600057.1_3'UTR|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	79						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GCGAGAGAAGAGGAGCGGCGA	0.667000											OREG0017200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54949475	54949475	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chrX:54949475G>T	ENST00000173898.7	+	3	622	c.510G>T	c.(508-510)ttG>ttT	p.L170F	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.L170F|TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.L170F|TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	170					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGTCACCCTTGCAGGTCCTAA	0.498000													27	10					2.50493e-22	3.55207e-22	1	1	0
VPS4A	27183	broad.mit.edu	37	16	69349944	69349944	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:69349944G>A	ENST00000254950.11	+	2	211	c.55G>A	c.(55-57)Gag>Aag	p.E19K	VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.E43K	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	19	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				AGCCACAGAGGAGGACAAAGC	0.562000													18	56					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24930250	24930250	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:24930250G>T	ENST00000405141.1	+	14	2622	c.1911G>T	c.(1909-1911)ttG>ttT	p.L637F	NCOA1_ENST00000538539.1_Missense_Mutation_p.L637F|NCOA1_ENST00000395856.3_Missense_Mutation_p.L637F|NCOA1_ENST00000348332.3_Missense_Mutation_p.L637F|NCOA1_ENST00000407230.1_Missense_Mutation_p.L486F|NCOA1_ENST00000406961.1_Missense_Mutation_p.L637F|NCOA1_ENST00000288599.5_Missense_Mutation_p.L637F			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	637	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGCTTTTGACAACAACTG	0.458000			T	PAX3	alveolar rhadomyosarcoma								33	43					2.46105e-21	3.4061e-21	1	1	0
CDH11	1009	broad.mit.edu	37	16	65022083	65022083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:65022083C>A	ENST00000394156.3	-	7	1429	c.976G>T	c.(976-978)Gag>Tag	p.E326*	CDH11_ENST00000268603.4_Nonsense_Mutation_p.E326*|CDH11_ENST00000566827.1_Nonsense_Mutation_p.E200*			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	326	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATCACCCCCTCCTGTGTTTCA	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			36	133					4.3181e-19	5.79094e-19	1	1	0
MPO	4353	broad.mit.edu	37	17	56356388	56356388	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr17:56356388G>C	ENST00000340482.3	-	5	1138	c.962C>G	c.(961-963)cCg>cGg	p.P321R	MPO_ENST00000225275.3_Missense_Mutation_p.P289R			P05164	PERM_HUMAN	myeloperoxidase	289					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GAAGCAGGGCGGCTGCTGAAC	0.667000													6	7					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	137034054	137034054	+	Translation_Start_Site	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:137034054G>A	ENST00000541417.1	-	0	472				KLHL3_ENST00000394937.3_Silent_p.D95D|KLHL3_ENST00000309755.4_Silent_p.D95D|KLHL3_ENST00000506491.1_Silent_p.D13D|KLHL3_ENST00000508657.1_Silent_p.D63D			Q9UH77	KLHL3_HUMAN	kelch-like family member 3							cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCCCATCCACGTCCTTGATTT	0.408000													43	91					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863675	52863675	+	Splice_Site	SNP	C	C	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:52863675C>G	ENST00000252250.6	-	7	1251		c.e7-1			NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C						cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GGCTGGCACACTAGGAGGGGA	0.562000													8	45					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61912160	61912160	+	Splice_Site	SNP	G	G	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr17:61912160G>C	ENST00000448276.2	-	6	989	c.723_splice	c.e6-1	p.P242_splice	SMARCD2_ENST00000225742.9_Splice_Site_p.P167_splice|SMARCD2_ENST00000323347.10_Splice_Site_p.P194_splice	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	242					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGTTTGCTAGGCTGGGGATGG	0.507000											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	47					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15415892	15415892	+	Missense_Mutation	SNP	A	A	C	rs141034921	byFrequency	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:15415892A>C	ENST00000281513.5	-	44	5465	c.5440T>G	c.(5440-5442)Ttg>Gtg	p.L1814V	NBAS_ENST00000441750.1_Missense_Mutation_p.L1694V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1814										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGGCTCCAATGCTTCAAGA	0.373000													26	57					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616368	22616368	+	RNA	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr14:22616368C>A	ENST00000390457.2	+	0	206																											GGGAGAAAATCTCACTGTGTA	0.517000													7	62					0.248553	0.249998	1	1	0
IGKV1-17	28937	broad.mit.edu	37	2	89416963	89416963	+	RNA	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:89416963G>T	ENST00000490686.1	-	0	247																											TTGCAAACTGGATGCAGCATA	0.512000													67	67					5.02462e-34	7.55878e-34	1	1	0
ZNF491	126069	broad.mit.edu	37	19	11917623	11917623	+	Silent	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:11917623A>T	ENST00000323169.5	+	3	1186	c.855A>T	c.(853-855)tcA>tcT	p.S285S	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CTCCCAGTTCATTTCAAAGGC	0.413000													16	42					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103368622	103368622	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:103368622T>C	ENST00000424685.2	-	7	848	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	RELN_ENST00000343529.5_Missense_Mutation_p.Q230R|RELN_ENST00000428762.1_Missense_Mutation_p.Q230R			P78509	RELN_HUMAN	reelin	230					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)		CGCGCCACACTGTTCTCCAGT	0.458000													5	46					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006136	34006136	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:34006136G>A	ENST00000373381.4	-	60	9796	c.9620C>T	c.(9619-9621)cCt>cTt	p.P3207L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3183	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAACACTGAGGCAGCTCTCC	0.582000													28	59					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999891	124999891	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:124999891A>T	ENST00000431078.1	+	3	666	c.302A>T	c.(301-303)gAc>gTc	p.D101V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	101	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGAAGCTCTGACTGGGTGACG	0.507000													3	18					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73990933	73990933	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr4:73990933G>T	ENST00000358602.4	-	17	3447	c.3331C>A	c.(3331-3333)Cac>Aac	p.H1111N	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.H860N|ANKRD17_ENST00000509867.2_Missense_Mutation_p.H998N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1111					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTCTCGGTGCTCTATACTA	0.398000													27	53					1.68575e-08	2.02525e-08	1	1	0
CALCRL	10203	broad.mit.edu	37	2	188223813	188223813	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:188223813C>A	ENST00000409998.1	-	13	1667	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.G296C|CALCRL_ENST00000410068.1_Missense_Mutation_p.G296C|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	296						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CAAATTGGGCCATGGATAATG	0.343000													26	114					6.32553e-13	7.98771e-13	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52425531	52425531	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr3:52425531A>T	ENST00000420323.2	+	63	10225	c.9964A>T	c.(9964-9966)Atg>Ttg	p.M3322L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3387	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACTTCAGGATGTACATCAC	0.597000													8	19					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531945	75531945	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:75531945A>G	ENST00000297785.3	-	9	980	c.926T>C	c.(925-927)aTt>aCt	p.I309T	ALDH1A1_ENST00000376939.1_3'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	309					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCACAAAAATCCTGGATGC	0.443000													38	48					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145610329	145610329	+	Silent	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:145610329A>G	ENST00000265271.5	+	6	865	c.699A>G	c.(697-699)gcA>gcG	p.A233A	RBM27_ENST00000506502.1_Silent_p.A233A	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	233					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTGGGGCACAGTCTATTC	0.453000													18	46					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101779470	101779470	+	Silent	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:101779470G>A	ENST00000261637.4	+	61	8340	c.8166G>A	c.(8164-8166)gaG>gaA	p.E2722E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2722					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			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						AGGCTAATGAGAAAAGGGCAC	0.423000													12	55					0	0	1	0	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	T	C	rs1967723	by1000genomes	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr14:35409214T>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CAACTTCTAATTCATCTCGCC	0.448000													4	79					0	0	1	0	0
CLDN25	644672	broad.mit.edu	37	11	113650978	113650978	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr11:113650978C>A	ENST00000453129.2	+	1	510	c.461C>A	c.(460-462)cCt>cAt	p.P154H		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	154						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GACAGCATCCCTGACATCATA	0.577000													12	50					0.0809354	0.081882	1	1	0
IGHV1-2	28474	broad.mit.edu	37	14	106452900	106452900	+	RNA	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr14:106452900C>T	ENST00000390594.2	-	0	185																											AGAAGCCTTGCAGGAGACCTT	0.577000													21	101					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44915859	44915859	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:44915859C>A	ENST00000429094.2	-	18	2603	c.2099G>T	c.(2098-2100)tGc>tTc	p.C700F	NELL2_ENST00000333837.4_Missense_Mutation_p.C723F|NELL2_ENST00000437801.2_Missense_Mutation_p.C750F|NELL2_ENST00000549027.1_Missense_Mutation_p.C699F|NELL2_ENST00000395487.2_Missense_Mutation_p.C699F|NELL2_ENST00000551601.1_Missense_Mutation_p.C652F|NELL2_ENST00000452445.2_Missense_Mutation_p.C700F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	700	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTGATGGAGGCACTGACTACT	0.458000													9	43					7.48243e-07	8.62973e-07	1	1	0
CASQ2	845	broad.mit.edu	37	1	116310962	116310962	+	Silent	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:116310962T>C	ENST00000261448.5	-	1	440	c.201A>G	c.(199-201)caA>caG	p.Q67Q	CASQ2_ENST00000456138.2_Silent_p.Q67Q	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	67				Q -> P (in Ref. 1; BAA23494).	heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGAACTGTTTTTGCGTGACCT	0.473000													30	87					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865212	106865212	+	Missense_Mutation	SNP	C	C	T	rs138506167		TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr10:106865212C>T	ENST00000369701.3	+	7	1378	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	384						integral to membrane	neuropeptide receptor activity	p.P384L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTGGGCCTTTTGCCCGC	0.473000													32	76					0	0	1	0	0
RAPSN	5913	broad.mit.edu	37	11	47464341	47464341	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr11:47464341G>A	ENST00000298854.2	-	3	770	c.557C>T	c.(556-558)cCc>cTc	p.P186L	RAPSN_ENST00000529341.1_Missense_Mutation_p.P186L|RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000352508.3_Missense_Mutation_p.P186L	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	186					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CGCCTTGCAGGGGAAGAACAG	0.597000													27	31					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141771172	141771172	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:141771172C>T	ENST00000389484.3	-	14	3304	c.2333G>A	c.(2332-2334)aGa>aAa	p.R778K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	778					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGGTGGTCTTTCATGCCT	0.343000										TSP Lung(27;0.18)			13	59					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17025272	17025272	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:17025272C>T	ENST00000443236.1	-	29	3995	c.3964G>A	c.(3964-3966)Gtg>Atg	p.V1322M		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1275						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCAACCACCACGTAGGCTGTC	0.607000													12	34					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204924040	204924040	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:204924040C>T	ENST00000367172.4	+	7	824	c.496C>T	c.(496-498)Cct>Tct	p.P166S	NFASC_ENST00000401399.1_Missense_Mutation_p.P166S|NFASC_ENST00000404907.1_Missense_Mutation_p.P160S|NFASC_ENST00000539706.1_Missense_Mutation_p.P160S|NFASC_ENST00000404076.1_Missense_Mutation_p.P160S|NFASC_ENST00000403080.1_Missense_Mutation_p.P166S|NFASC_ENST00000360049.4_Missense_Mutation_p.P160S|NFASC_ENST00000513543.1_Missense_Mutation_p.P160S|NFASC_ENST00000367169.4_Missense_Mutation_p.P166S|NFASC_ENST00000338586.6_Missense_Mutation_p.P166S|NFASC_ENST00000367171.4_Missense_Mutation_p.P166S|NFASC_ENST00000338515.6_Missense_Mutation_p.P166S|NFASC_ENST00000339876.6_Missense_Mutation_p.P166S|NFASC_ENST00000367170.4_Missense_Mutation_p.P166S			O94856	NFASC_HUMAN	neurofascin	166	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCCCCCGCCTGGACTTCC	0.572000													40	208					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92083505	92083505	+	Silent	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:92083505T>C	ENST00000285420.4	+	2	411	c.312T>C	c.(310-312)acT>acC	p.T104T	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	74										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AGCTGACTACTAAGGAGAATA	0.373000													108	65					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3597991	3597991	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:3597991C>T	ENST00000315212.3	-	4	836	c.481G>A	c.(481-483)Ggc>Agc	p.G161S		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	161	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CAGTAAACGCCGATTCCTGCT	0.517000													11	197					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625066	111625066	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:111625066G>A	ENST00000333999.3	+	1	464	c.464G>A	c.(463-465)cGa>cAa	p.R155Q		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	155						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TATCTCTTCCGACAAGAGATG	0.502000													8	53					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17500265	17500265	+	Silent	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:17500265T>C	ENST00000541323.1	+	7	1528	c.1083T>C	c.(1081-1083)aaT>aaC	p.N361N	PDGFRL_ENST00000398074.3_Silent_p.N361N|PDGFRL_ENST00000251630.6_Silent_p.N361N|PDGFRL_ENST00000523248.1_Intron	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	361	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTGCTCAGAATCTTCAAGGAC	0.438000													10	43					0	0	1	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361759	5361759	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:5361759C>A	ENST00000223864.2	-	4	432	c.212_splice	c.e4+1	p.G71_splice	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	71						integral to membrane											CAAACATACCCAGCTGTTAAA	0.373000													7	48					0.000157383	0.000173422	1	1	0
DMD	1756	broad.mit.edu	37	X	32662374	32662374	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chrX:32662374C>A	ENST00000357033.4	-	11	1412	c.1206G>T	c.(1204-1206)ttG>ttT	p.L402F	DMD_ENST00000288447.4_Missense_Mutation_p.L394F|DMD_ENST00000378677.2_Missense_Mutation_p.L398F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	402					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.L397F(1)|p.L398F(1)|p.L402F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTACTTCCCAATTGTAGAA	0.403000													41	14					2.47872e-24	3.54396e-24	1	1	0
PSMC6	5706	broad.mit.edu	37	14	53175517	53175517	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr14:53175517G>C	ENST00000445930.2	+	4	289	c.283G>C	c.(283-285)Gtg>Ctg	p.V95L	PSMC6_ENST00000606149.1_Missense_Mutation_p.V81L			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	81					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	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AAGATATGTTGTGGGTTGTCG	0.328000													15	52					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8242469	8242469	+	Silent	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr4:8242469C>T	ENST00000539824.1	+	18	3944	c.3570C>T	c.(3568-3570)gcC>gcT	p.A1190A	SH3TC1_ENST00000245105.3_Silent_p.A1266A			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1266							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGCTGGCAGCCGCCGTGGACC	0.612000													5	87					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244436	56244436	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr19:56244436G>T	ENST00000332836.2	-	2	788	c.761C>A	c.(760-762)cCa>cAa	p.P254Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	254	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAGGATAATTGGCATTGGCTG	0.408000													10	33					0.000442599	0.00048157	1	1	0
PLGLA	285189	broad.mit.edu	37	2	107007384	107007384	+	RNA	SNP	T	T	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:107007384T>A	ENST00000484422.1	+	0	233																											AGTGCAAGACTGGGAATGGAA	0.468000													10	13					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384444	20384444	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:20384444C>T	ENST00000302451.4	-	6	930	c.681_splice	c.e6-1	p.G228_splice		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	228					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACAATTTTTCCCTTGTACAAA	0.343000													23	81					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14799125	14799125	+	Missense_Mutation	SNP	C	C	A	rs138177777		TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr3:14799125C>A	ENST00000253697.3	+	13	2640	c.2188C>A	c.(2188-2190)Ctg>Atg	p.L730M	C3orf20_ENST00000435614.1_Missense_Mutation_p.L608M|C3orf20_ENST00000412910.1_Missense_Mutation_p.L608M	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	730						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCAGTGGCTGCTGAACAC	0.652000													7	6					0.00198382	0.00209269	1	1	0
SENP6	26054	broad.mit.edu	37	6	76385162	76385162	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr6:76385162T>G	ENST00000370014.3	+	12	2023	c.1404T>G	c.(1402-1404)gaT>gaG	p.D468E	SENP6_ENST00000327284.8_Missense_Mutation_p.D461E|SENP6_ENST00000447266.2_Missense_Mutation_p.D468E|SENP6_ENST00000370010.2_Missense_Mutation_p.D461E|SENP6_ENST00000541192.1_Missense_Mutation_p.D64E	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	468					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			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)				TTTGTTTAGATTTTATCAAGA	0.274000													4	23					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17017717	17017717	+	RNA	SNP	C	C	T	rs12561804	by1000genomes	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:17017717C>T	ENST00000492551.1	-	0	2010					NR_026567.1																						GCTCACCTCTCTTCTTCCAGC	0.622000													3	30					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10677747	10677747	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr18:10677747G>T	ENST00000302079.6	-	48	7549	c.7550C>A	c.(7549-7551)cCa>cAa	p.P2517Q	PIEZO2_ENST00000538948.1_Missense_Mutation_p.P537Q|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2605Q|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2580Q|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P372Q|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2580						integral to membrane	ion channel activity										CACTTACACTGGTGTTTTTGA	0.343000													25	27					1.85244e-09	2.27285e-09	1	1	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976122	29976122	+	RNA	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr6:29976122A>G	ENST00000376797.3	-	0	1053				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							GACCAGGCCCACAGGGGATGG	0.607000													27	21					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36664947	36664947	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:36664947T>C	ENST00000399881.3	+	6	672	c.635T>C	c.(634-636)aTt>aCt	p.I212T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	212						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCTTGCAAATTCTACGAGCC	0.423000													20	84					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23346382	23346382	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:23346382G>A	ENST00000338121.5	+	2	1439	c.1362G>A	c.(1360-1362)atG>atA	p.M454I	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.M454I|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	454					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGACGCACATGAGGTACGCGG	0.652000													4	17					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	9					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	630919	630919	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:630919C>G	ENST00000321878.5	+	9	1637	c.1478C>G	c.(1477-1479)tCc>tGc	p.S493C	PIGQ_ENST00000409527.2_Missense_Mutation_p.S493C|PIGQ_ENST00000026218.5_Missense_Mutation_p.S493C	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	493	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTCATCAACTCCCTGCCGCTG	0.657000													21	125					0	0	1	0	0
GUSBP3	653188	broad.mit.edu	37	5	68902954	68902954	+	RNA	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:68902954G>T	ENST00000510264.2	+	0	29																											ACTAAAGGACGGACAGAGCAT	0.393000													14	79					1.87028e-06	2.14277e-06	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													6	48					0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138254	32138254	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr6:32138254C>A	ENST00000395499.1	-	4	1037	c.458G>T	c.(457-459)gGg>gTg	p.G153V	AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G153V|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G153V|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G153V|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G41V|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G153V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G153V			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	153					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GATGGCATCCCCCGTGCGCTT	0.622000													21	62					1.50039e-11	1.88092e-11	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81799909	81799909	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:81799909G>T	ENST00000356860.3	-	4	649	c.311C>A	c.(310-312)gCg>gAg	p.A104E	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A104E|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A104E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	104						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AACTTTCTCCGCTTCCAATGC	0.348000													53	105					3.28156e-27	4.85222e-27	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821806	5821806	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chrX:5821806C>A	ENST00000381095.3	-	5	1540	c.913G>T	c.(913-915)Ggc>Tgc	p.G305C	NLGN4X_ENST00000538097.1_Missense_Mutation_p.G305C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G305C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G305C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G325C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	305					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGTTGCAGCCGACCTTGTCT	0.572000													35	15					6.53348e-20	8.89993e-20	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34320643	34320643	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr18:34320643G>A	ENST00000257209.4	+	18	3198	c.3076G>A	c.(3076-3078)Gat>Aat	p.D1026N	FHOD3_ENST00000445677.1_Missense_Mutation_p.D988N|FHOD3_ENST00000592128.1_Missense_Mutation_p.D5N|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1201N|FHOD3_ENST00000359247.4_Missense_Mutation_p.D1009N|FHOD3_ENST00000591635.1_Missense_Mutation_p.D222N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1009	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTCCCACCGATGAGGAGAA	0.473000													4	23					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43056995	43056995	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:43056995C>A	ENST00000316099.3	+	9	1239	c.1150C>A	c.(1150-1152)Cat>Aat	p.H384N	HNF4A_ENST00000457232.1_Missense_Mutation_p.H362N|HNF4A_ENST00000415691.1_Missense_Mutation_p.H384N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	384					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGATGCACCCCATGCCCACCA	0.592000													15	54					1.67942e-08	2.02525e-08	1	1	0
GAS6	2621	broad.mit.edu	37	13	114523877	114523877	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr13:114523877G>T	ENST00000357389.3	-	15	2278	c.2126C>A	c.(2125-2127)aCg>aAg	p.T709K	GAS6_ENST00000450766.1_Missense_Mutation_p.T393K|GAS6_ENST00000355761.4_Missense_Mutation_p.T612K|GAS6_ENST00000418959.3_Missense_Mutation_p.T367K|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.T666K			Q14393	GAS6_HUMAN	growth arrest-specific 6	709	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGAGTGGGCCGTGATGTCGCT	0.697000													8	37					2.17888e-05	2.4637e-05	1	1	0
C6	729	broad.mit.edu	37	5	41149524	41149524	+	Silent	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:41149524G>T	ENST00000263413.3	-	17	2706	c.2442C>A	c.(2440-2442)ccC>ccA	p.P814P	C6_ENST00000337836.5_Silent_p.P814P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	814	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTTACAAGCGGGTGAAGTAA	0.423000													44	174					5.48756e-27	8.04532e-27	1	1	0
SLC4A10	57282	broad.mit.edu	37	2	162804198	162804198	+	Silent	SNP	C	C	A	rs141829716	by1000genomes	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:162804198C>A	ENST00000375514.5	+	17	2456	c.2169C>A	c.(2167-2169)acC>acA	p.T723T	SLC4A10_ENST00000446997.1_Silent_p.T742T|SLC4A10_ENST00000415876.2_Silent_p.T712T|SLC4A10_ENST00000272716.5_Silent_p.T712T|SLC4A10_ENST00000421911.1_Silent_p.T742T	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	742					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTCAGCCACCCTGAAGCAGT	0.398000													45	77					5.78141e-17	7.52018e-17	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8460570	8460570	+	Splice_Site	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr9:8460570T>C	ENST00000381196.4	-	30	4259	c.3714_splice	c.e30-1	p.K1239_splice	PTPRD_ENST00000397606.3_Splice_Site_p.K818_splice|PTPRD_ENST00000355233.5_Splice_Site_p.K828_splice|PTPRD_ENST00000360074.4_Splice_Site_p.K1226_splice|PTPRD_ENST00000358503.5_Splice_Site_p.K1217_splice|PTPRD_ENST00000356435.5_Splice_Site_p.K1239_splice|PTPRD_ENST00000540109.1_Splice_Site_p.K1239_splice|PTPRD_ENST00000397611.3_Splice_Site_p.K825_splice|PTPRD_ENST00000537002.1_Splice_Site_p.K825_splice|PTPRD_ENST00000486161.1_Splice_Site_p.K828_splice|PTPRD_ENST00000397617.3_Splice_Site_p.K818_splice	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1239					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCATACATCTTCTGAGGAAA	0.413000										TSP Lung(15;0.13)			12	33					0	0	1	0	0
RNF166	115992	broad.mit.edu	37	16	88767747	88767747	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:88767747T>C	ENST00000312838.4	-	2	330	c.235A>G	c.(235-237)Aag>Gag	p.K79E	RNF166_ENST00000562499.1_5'UTR|RNF166_ENST00000541206.2_5'UTR|RNF166_ENST00000567844.1_Intron	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN	ring finger protein 166	79						intracellular	zinc ion binding			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TCCACCTTCTTGGGGTCGAAG	0.657000													12	15					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580193	37580193	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:37580193C>T	ENST00000217429.4	+	4	919	c.878C>T	c.(877-879)aCg>aTg	p.T293M		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	263					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTACATGGACGGATGGCAAA	0.398000													19	33					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620594	7620594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr3:7620594C>A	ENST00000486284.1	+	8	2275	c.2001C>A	c.(1999-2001)tgC>tgA	p.C667*	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Nonsense_Mutation_p.C667*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.C667*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.C667*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.C667*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	667					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGGTATGTGCATCAGTTATG	0.458000													16	52					2.31682e-05	2.60266e-05	1	1	0
NOD2	64127	broad.mit.edu	37	16	50745748	50745748	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:50745748G>T	ENST00000300589.2	+	4	2031	c.1926G>T	c.(1924-1926)agG>agT	p.R642S		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	642					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAATGGCCAGGCTCCTGCCCA	0.592000													4	36					0.0215528	0.0223271	1	1	0
BAI3	577	broad.mit.edu	37	6	70070791	70070791	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr6:70070791C>A	ENST00000370598.1	+	29	4447	c.3626C>A	c.(3625-3627)gCa>gAa	p.A1209E	BAI3_ENST00000238918.8_Missense_Mutation_p.A415E|BAI3_ENST00000546190.1_Missense_Mutation_p.A173E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1209					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTGCCGAGCAGCCACAATA	0.358000													33	39					3.90053e-15	5.03576e-15	1	1	0
UACA	55075	broad.mit.edu	37	15	70960252	70960252	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr15:70960252C>A	ENST00000322954.6	-	16	2956	c.2771G>T	c.(2770-2772)aGc>aTc	p.S924I	UACA_ENST00000560441.1_Missense_Mutation_p.S909I|UACA_ENST00000539319.1_Missense_Mutation_p.S815I|UACA_ENST00000379983.2_Missense_Mutation_p.S911I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	924						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTGCCAGGCTGATGTACTC	0.378000													8	35					0.0381472	0.0388204	1	1	0
WDR60	55112	broad.mit.edu	37	7	158672379	158672379	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:158672379A>T	ENST00000407559.3	+	5	736	c.578A>T	c.(577-579)cAg>cTg	p.Q193L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	193										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTACAGCTGCAGTACGGAGAC	0.517000													10	17					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415206	10415206	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr17:10415206T>A	ENST00000226207.5	-	14	1460	c.1366A>T	c.(1366-1368)Agg>Tgg	p.R456W	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	456	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGTACTGCCTGGGCTGCTTG	0.478000													90	74					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46710517	46710517	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:46710517T>C	ENST00000299138.7	-	8	950	c.892A>G	c.(892-894)Ata>Gta	p.I298V	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	298					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCAATGATTATGTTCTTCACA	0.348000													6	32					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75264652	75264652	+	Missense_Mutation	SNP	C	C	T	rs139288319		TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr10:75264652C>T	ENST00000339859.4	-	21	4367	c.4267G>A	c.(4267-4269)Gtt>Att	p.V1423I	USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.V1273I|USP54_ENST00000422491.2_Intron|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|USP54_ENST00000394811.2_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.V1423I			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1423					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCTGAGACAACGGTGCCACTG	0.527000													7	80					0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23028868	23028868	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:23028868C>T	ENST00000377103.2	-	1	1510	c.1274G>A	c.(1273-1275)tGt>tAt	p.C425Y		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	425	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AGGGCACTCACAGCTAGCCTG	0.622000													17	32					0	0	1	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436340	113436340	+	Silent	SNP	G	G	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr4:113436340G>T	ENST00000313341.3	-	2	618	c.292C>A	c.(292-294)Cga>Aga	p.R98R		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	98					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TTGGCGCCTCGGGAGACGGCC	0.701000													10	28					4.68919e-08	5.59469e-08	1	1	0
NEU4	129807	broad.mit.edu	37	2	242755751	242755751	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:242755751G>A	ENST00000391969.2	+	3	781	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	NEU4_ENST00000405370.1_Missense_Mutation_p.V24M|NEU4_ENST00000404257.1_Missense_Mutation_p.V36M|NEU4_ENST00000325935.6_Missense_Mutation_p.V37M|NEU4_ENST00000407683.1_Missense_Mutation_p.V24M	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	24						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GACCTACCGCGTGCCCTCGCT	0.697000													4	20					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111495203	111495203	+	Silent	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:111495203G>A	ENST00000369763.4	-	2	693	c.303C>T	c.(301-303)gcC>gcT	p.A101A	LRIF1_ENST00000494675.1_5'UTR|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTGAAGAACTGGCTGGCTGAA	0.373000													21	66					0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31045556	31045556	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:31045556A>G	ENST00000394998.1	+	4	479	c.136A>G	c.(136-138)Att>Gtt	p.I46V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.I48V	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	48					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGTCCGGACAATTCGGCAGAC	0.572000													80	86					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|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	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	34					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	by1000genomes	TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:140237387T>G	ENST00000307360.5	+	1	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662000													4	54					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652113	15652113	+	Silent	SNP	G	G	A			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:15652113G>A	ENST00000262041.5	-	3	1223	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	272					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATTCCCGACAGCTCTGATGGG	0.532000													40	88					0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633590	19633591	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr1:19633590_19633591insAC	ENST00000235835.3	-	5	714_715	c.693_694insGT	c.(691-696)ggtgctfs	p.A232fs		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	232					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGTCAGCAGGCCCCCTGCGG	0.629													26	56	---	---	---	---					
FASTKD1	79675	broad.mit.edu	37	2	170411659	170411659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr2:170411659delC	ENST00000453153.2	-	7	1535	c.1189delG	c.(1189-1191)cgfs	p.A397fs	FASTKD1_ENST00000453929.2_Frame_Shift_Del_p.A397fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	397					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTAAGTTTCGCAAAAAACTCC	0.299													18	26	---	---	---	---					
TIGD4	201798	broad.mit.edu	37	4	153691534	153691535	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr4:153691534_153691535delTT	ENST00000304337.2	-	2	1442_1443	c.622_623delAA	c.(622-624)gfs	p.K208fs		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	208	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TTTGCATAACTTTCCAACTGAA	0.366													48	68	---	---	---	---					
ANXA6	309	broad.mit.edu	37	5	150512728	150512728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr5:150512728delT	ENST00000354546.5	-	9	794	c.567delA	c.(565-567)gafs	p.E189fs	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Frame_Shift_Del_p.E189fs|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Frame_Shift_Del_p.E157fs	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	189						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCATTTCAGTTCCCCTGCCT	0.517													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr7:100369721delT	ENST00000542585.1	+	0	5573				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532													2	4	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													12	373	---	---	---	---					
GPRC5A	9052	broad.mit.edu	37	12	13061511	13061512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr12:13061511_13061512insG	ENST00000014914.5	+	2	1218_1219	c.328_329insG	c.(328-330)ctgfs	p.L110fs	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	110						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	p.S110T(1)|p.S110F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CATCTGCTTCTCCTGCCTGCTG	0.594													91	103	---	---	---	---					
HYKK	123688	broad.mit.edu	37	15	78819900	78819904	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr15:78819900_78819904delGAGAA	ENST00000566332.1	+	4	716_720	c.656_660delGAGAA	c.(655-660)cfs	p.RE219fs	HYKK_ENST00000569878.1_Splice_Site_p.RE219_splice|HYKK_ENST00000408962.2_Splice_Site_p.RE219_splice|HYKK_ENST00000563233.1_Splice_Site_p.RE219_splice|HYKK_ENST00000388988.4_Splice_Site_p.RE219_splice					hydroxylysine kinase																		AGTCATTTTCGAGAATGTGAGTATT	0.346													15	48	---	---	---	---					
NDUFB10	4716	broad.mit.edu	37	16	2011189	2011191	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr16:2011189_2011191delTAC	ENST00000543683.2	+	2	248_250	c.166_168delTAC	c.(166-168)del	p.Y58del	NDUFB10_ENST00000268668.6_In_Frame_Del_p.Y58del|NDUFB10_ENST00000569148.1_In_Frame_Del_p.Y58del			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	58					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	GAACAGGTATTACTACTACCACC	0.488													7	64	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-MP-A4T8-01A-11D-A24P-08	TCGA-MP-A4T8-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ec349f7-c7b8-425b-8b0d-83b2fc3b110a	7b388562-497f-407c-bc16-67a2d659094d	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													5	7	---	---	---	---					
