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
HSPA1A	3303	broad.mit.edu	37	6	31783386	31783386	+	Translation_Start_Site	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:31783386A>T	ENST00000375651.5	+	0	96				HSPA1A_ENST00000458062.2_De_novo_Start_OutOfFrame|HSPA1L_ENST00000417199.3_5'UTR	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A						anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CCGTTGTCCCAAGGCTTCCCA	0.607000													15	9					0	0	1.49906e-05	0	0
SPZ1	84654	broad.mit.edu	37	5	79616044	79616044	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:79616044T>A	ENST00000296739.4	+	1	255	c.10T>A	c.(10-12)Tct>Act	p.S4T		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S4T(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATGGCCAGCTCTGCTAAGTC	0.468000													135	184					0	0	0.000147903	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													3	41					0	0	6.4e-05	0	0
CLLU1	574028	broad.mit.edu	37	12	92818809	92818809	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:92818809G>A	ENST00000378485.1	+	1	1075	c.353G>A	c.(352-354)cGc>cAc	p.R118H	CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Intron|CLLU1OS_ENST00000378487.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAACTGTTGCGCGTGTGTTGG	0.323000													11	15					0	0	3.86212e-05	0	0
PTPDC1	138639	broad.mit.edu	37	9	96850154	96850154	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr9:96850154A>T	ENST00000375360.3	+	4	636	c.296A>T	c.(295-297)gAg>gTg	p.E99V	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E151V	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	99							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCATCCTCTGAGCTCCTGGAG	0.468000													56	81					0	0	0.000147903	0	0
SRF	6722	broad.mit.edu	37	6	43139845	43139845	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:43139845A>C	ENST00000265354.4	+	1	809	c.451A>C	c.(451-453)Atc>Ctc	p.I151L		NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	151	MADS-box.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GATGGAGTTCATCGACAACAA	0.687000													5	37					0	0	1.23904e-05	0	0
ROCK1P1	727758	broad.mit.edu	37	18	116843	116843	+	RNA	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:116843A>T	ENST00000576266.1	+	0	190																											TCATTTTAGTAAACTGTTTCA	0.294000													17	7					0	0	7.16444e-05	0	0
SLC5A4	6527	broad.mit.edu	37	22	32635079	32635079	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr22:32635079T>C	ENST00000266086.4	-	6	489		c.e6-2		RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4						carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TATGTCTGCCTAAAAAGGGAA	0.463000													19	3					0	0	9.7654e-05	0	0
C10orf71	118461	broad.mit.edu	37	10	50530628	50530628	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:50530628G>A	ENST00000374144.3	+	3	326	c.38G>A	c.(37-39)aGc>aAc	p.S13N	C10orf71_ENST00000323868.4_Missense_Mutation_p.S13N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	13										endometrium(1)	1						GACGCGTTCAGCGACTCCTCC	0.542000													7	3					0	0	2.17888e-05	0	0
IGSF10	285313	broad.mit.edu	37	3	151163993	151163993	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:151163993A>G	ENST00000282466.3	-	4	3775	c.3776T>C	c.(3775-3777)gTg>gCg	p.V1259A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1259					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTTGCATCACACTTGTTGA	0.438000													4	48					0	0	2.56e-06	0	0
EXD1	161829	broad.mit.edu	37	15	41476512	41476512	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:41476512G>T	ENST00000314992.5	-	10	1352	c.1162C>A	c.(1162-1164)Caa>Aaa	p.Q388K	EXD1_ENST00000458580.2_Missense_Mutation_p.Q446K	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	388					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTTGTAGCTTGTTTATTCAAA	0.383000													40	6					4.16155e-14	3.01511e-12	6.26518e-05	1	0
GNAS	2778	broad.mit.edu	37	20	57430051	57430051	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:57430051C>T	ENST00000306120.3	+	1	1541	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	GNAS_ENST00000371099.2_Silent_p.S577S|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371100.4_Silent_p.S577S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Silent_p.S577S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ATGACTCCAGCGGAGACGAGT	0.672000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			13	37					0	0	0.000151284	0	0
SPAST	6683	broad.mit.edu	37	2	32368403	32368403	+	Splice_Site	SNP	A	A	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:32368403A>G	ENST00000315285.3	+	14	1661		c.e14-1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin						cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATATTTTTCAGACAAGACTA	0.328000													12	20					0	0	0.00010058	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													6	9					0	0	8.12818e-05	0	0
SSPO	23145	broad.mit.edu	37	7	149519711	149519711	+	RNA	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr7:149519711G>A	ENST00000378016.2	+	0	13201							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGGCAGGCGCCCCCTGCAC	0.692000													8	4					0	0	2.17888e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067461	103067461	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103067461G>A	ENST00000264260.2	+	11	1953	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R313K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	455	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.R455K(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGCTTGAAAGAGATGTGGCT	0.423000													25	32					0	0	5.49717e-05	0	0
AP3D1	8943	broad.mit.edu	37	19	2109958	2109958	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:2109958C>T	ENST00000355272.6	-	29	3471		c.e29-1		AP3D1_ENST00000345016.5_Splice_Site|AP3D1_ENST00000356926.4_Splice_Site|AP3D1_ENST00000350812.6_Splice_Site	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCATTCTGCGGTGGAG	0.642000													24	30					0	0	5.49717e-05	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													9	38					0	0	3.86212e-05	0	0
OR11A1	26531	broad.mit.edu	37	6	29394894	29394894	+	Silent	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:29394894A>T	ENST00000377149.1	-	5	997	c.525T>A	c.(523-525)atT>atA	p.I175I	OR11A1_ENST00000377148.1_Silent_p.I175I|OR11A1_ENST00000377147.2_Silent_p.I175I|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AAAACTGGTCAATGTGGTTGG	0.547000													12	16					0	0	0.000151284	0	0
PRSS48	345062	broad.mit.edu	37	4	152204317	152204317	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:152204317A>G	ENST00000455694.2	+	4	532	c.530A>G	c.(529-531)gAc>gGc	p.D177G	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.D34G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	177	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CCCATTATTGACCGCCAGGCT	0.463000													95	99					0	0	0.000147903	0	0
AR	367	broad.mit.edu	37	X	66765795	66765795	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:66765795C>T	ENST00000374690.3	+	1	1331	c.807C>T	c.(805-807)taC>taT	p.Y269Y	AR_ENST00000396044.3_Silent_p.Y269Y|AR_ENST00000504326.1_Silent_p.Y269Y|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	267	Modulating.		P -> S (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Y269Y(1)|p.Y79Y(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATTGCATGTACGCCCCACTTT	0.597000									Androgen Insensitivity Syndrome				18	33					0	0	9.7654e-05	0	0
DST	667	broad.mit.edu	37	6	56496732	56496732	+	Silent	SNP	G	G	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:56496732G>C	ENST00000370754.5	-	28	3812	c.3813C>G	c.(3811-3813)ccC>ccG	p.P1271P	DST_ENST00000421834.2_Silent_p.P1093P|DST_ENST00000361203.3_Silent_p.P1093P|DST_ENST00000244364.6_Silent_p.P767P|DST_ENST00000312431.6_Silent_p.P1093P|DST_ENST00000370769.4_Silent_p.P1093P|DST_ENST00000518935.1_Silent_p.P767P|DST_ENST00000370788.2_Silent_p.P1093P|DST_ENST00000370765.6_Silent_p.P767P|DST_ENST00000446842.2_Silent_p.P767P			Q03001	DYST_HUMAN	dystonin	1093					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTTTCCAGGGGAGTTCGAA	0.383000													31	110					0	0	7.24521e-05	0	0
DCC	1630	broad.mit.edu	37	18	50918108	50918108	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:50918108C>A	ENST00000442544.2	+	17	3155	c.2539C>A	c.(2539-2541)Cca>Aca	p.P847T	DCC_ENST00000412726.1_Missense_Mutation_p.P675T|DCC_ENST00000581580.1_Missense_Mutation_p.P482T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	847	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATGCTCCCACCAGTAGGTGT	0.522000													22	134					1.55469e-16	1.13864e-14	5.49717e-05	1	0
GPR139	124274	broad.mit.edu	37	16	20043116	20043116	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr16:20043116T>A	ENST00000570682.1	-	2	1303	c.1003A>T	c.(1003-1005)Atc>Ttc	p.I335F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	335						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGCATCTTGATGCAGTGTGAG	0.443000													84	16					0	0	0.000147903	0	0
NUP62CL	54830	broad.mit.edu	37	X	106397458	106397458	+	Silent	SNP	C	C	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:106397458C>G	ENST00000372466.4	-	5	464	c.213G>C	c.(211-213)gtG>gtC	p.V71V	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	71					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						CATATGTCATCACAGGAGTTG	0.388000													19	63					0	0	1.64113e-05	0	0
IL4I1	259307	broad.mit.edu	37	19	50399210	50399210	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:50399210C>A	ENST00000595948.1	-	5	800	c.180G>T	c.(178-180)caG>caT	p.Q60H	IL4I1_ENST00000391826.2_Missense_Mutation_p.Q38H|IL4I1_ENST00000341114.3_Missense_Mutation_p.Q60H	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	38						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGTCAGGATCCTGCATGCATT	0.632000													32	39					5.60225e-13	4.01574e-11	3.70037e-05	1	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													4	10					0	0	1.23904e-05	0	0
LONP1	9361	broad.mit.edu	37	19	5714222	5714222	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:5714222C>A	ENST00000360614.3	-	2	647	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000585374.1_Missense_Mutation_p.V50F|LONP1_ENST00000593119.1_Missense_Mutation_p.V100F|LONP1_ENST00000590729.1_Missense_Mutation_p.V50F	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	164	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGACGCCGACATAAGGCTGG	0.458000													34	70					4.65686e-17	3.44813e-15	0.000109025	1	0
PSME3	10197	broad.mit.edu	37	17	40986871	40986871	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr17:40986871A>G	ENST00000293362.3	+	4	382	c.221A>G	c.(220-222)aAt>aGt	p.N74S	PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000545225.1_Missense_Mutation_p.N13S|PSME3_ENST00000590720.1_Missense_Mutation_p.N74S|PSME3_ENST00000441946.2_Missense_Mutation_p.N85S	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	74					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTCTCACCAATAGCCATGAT	0.448000													35	53					0	0	4.2857e-05	0	0
FUT9	10690	broad.mit.edu	37	6	96651149	96651149	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:96651149C>A	ENST00000302103.5	+	3	444	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	40					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GATCTTCAGTCCAATGGAATC	0.398000													32	10					2.2171e-23	1.67852e-21	3.70037e-05	1	0
RAG1	5896	broad.mit.edu	37	11	36596185	36596185	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:36596185C>T	ENST00000299440.5	+	2	1443	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	444			A -> V (in OS/T(-)B(-)NK(+) SCID; atypical).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.A444V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCTCTGAGGGCGAGGAATGAG	0.562000									Familial Hemophagocytic Lymphohistiocytosis				31	10					0	0	4.66903e-05	0	0
HABP4	22927	broad.mit.edu	37	9	99233343	99233343	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr9:99233343C>A	ENST00000375249.4	+	5	869	c.794C>A	c.(793-795)tCc>tAc	p.S265Y	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	265					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GTGGAGGAGTCCCAGGGCACC	0.463000													34	54					9.65963e-10	6.85122e-08	8.91981e-05	1	0
KRT35	3886	broad.mit.edu	37	17	39634648	39634648	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr17:39634648C>T	ENST00000246639.2	-	5	1006	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	KRT35_ENST00000393989.1_Missense_Mutation_p.A322T			Q92764	KRT35_HUMAN	keratin 35	322	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ATCTCCAGGGCGTTGACCGTG	0.602000													19	25					0	0	7.07596e-05	0	0
ZNF592	9640	broad.mit.edu	37	15	85341986	85341986	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:85341986C>T	ENST00000299927.3	+	5	2926	c.2904C>T	c.(2902-2904)gcC>gcT	p.A968A	ZNF592_ENST00000560079.2_Silent_p.A968A			Q92610	ZN592_HUMAN	zinc finger protein 592	968					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGCCTGAAGCCCACCGCAGGG	0.667000													8	14					0	0	1.12685e-05	0	0
C12orf50	160419	broad.mit.edu	37	12	88379686	88379686	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:88379686G>A	ENST00000298699.2	-	11	1247	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	C12orf50_ENST00000550553.1_Missense_Mutation_p.T317M	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	356										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGACCCATGCGTGGGCCTGCT	0.478000													65	85					0	0	0.000147903	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36361338	36361338	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:36361338C>G	ENST00000405275.2	+	3	250	c.7C>G	c.(7-9)Cgg>Ggg	p.R3G	CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R30G			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	30					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAAGATGCGTCGGAAACAAAC	0.478000													12	56					0	0	0.000151284	0	0
DDX53	168400	broad.mit.edu	37	X	23018497	23018497	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:23018497C>G	ENST00000327968.5	+	1	411	c.323C>G	c.(322-324)gCt>gGt	p.A108G	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	108	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCCAAAGCGGCTATAGAAACA	0.383000													18	113					0	0	5.01169e-05	0	0
ZNF630	57232	broad.mit.edu	37	X	47919835	47919835	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:47919835A>T	ENST00000442455.3	-	4	533	c.190T>A	c.(190-192)Tac>Aac	p.Y64N	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.Y78N|ZNF630_ENST00000276054.4_5'UTR	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTACCTGGGTAGATCCACCTT	0.408000													41	53					0	0	0.000147903	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786315	128786315	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:128786315C>G	ENST00000529694.1	+	3	1325	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	KCNJ5_ENST00000533599.1_Missense_Mutation_p.Q317E|KCNJ5_ENST00000338350.4_Missense_Mutation_p.Q317E	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	317					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CATGACCTGCCAAGCCCGGAG	0.502000													31	2					0	0	4.66903e-05	0	0
CBLN2	147381	broad.mit.edu	37	18	70209065	70209065	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:70209065G>T	ENST00000269503.4	-	3	1104	c.331C>A	c.(331-333)Cgc>Agc	p.R111S	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.R111S|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	111	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTCATGGTGCGGTTGCTCATC	0.711000													14	2					1.67942e-08	1.17874e-06	7.07596e-05	1	0
IL18RAP	8807	broad.mit.edu	37	2	103068392	103068392	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068392C>T	ENST00000264260.2	+	12	2140	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	IL18RAP_ENST00000409369.1_Silent_p.F375F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	517	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TCTGTTACTTCCAAGAGCCAG	0.413000													31	51					0	0	3.51345e-05	0	0
KCNH8	131096	broad.mit.edu	37	3	19554767	19554767	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:19554767A>T	ENST00000328405.2	+	13	2651	c.2385A>T	c.(2383-2385)aaA>aaT	p.K795N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	795						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAACTTGAAATTGCAACTTT	0.433000													42	55					0	0	7.51294e-05	0	0
IK	3550	broad.mit.edu	37	5	140027504	140027504	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:140027504G>C	ENST00000417647.2	+	1	150	c.11G>C	c.(10-12)cGa>cCa	p.R4P	MIR3655_ENST00000581765.1_RNA	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	4					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCGGAGCGAGATAGTAAG	0.512000													10	86					0	0	3.86212e-05	0	0
LUZP2	338645	broad.mit.edu	37	11	25004713	25004713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:25004713C>A	ENST00000533227.1	+	9	668	c.381C>A	c.(379-381)tgC>tgA	p.C127*	LUZP2_ENST00000336930.6_Nonsense_Mutation_p.C213*	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	213						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGCAGCTCTGCTTGACATCTG	0.413000													45	13					4.37618e-36	3.35076e-34	0.000147903	1	0
NARG2	79664	broad.mit.edu	37	15	60741574	60741574	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:60741574G>C	ENST00000261520.4	-	10	1826	c.1592C>G	c.(1591-1593)aCt>aGt	p.T531S	NARG2_ENST00000439632.1_Missense_Mutation_p.T394S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	531						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TATATCTATAGTCATATCATT	0.333000													36	57					0	0	8.91981e-05	0	0
BRD9	65980	broad.mit.edu	37	5	884140	884140	+	Silent	SNP	A	A	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:884140A>G	ENST00000323510.4	-	5	590	c.591T>C	c.(589-591)agT>agC	p.S197S	BRD9_ENST00000388890.4_Silent_p.S177S|BRD9_ENST00000467963.1_Silent_p.S293S|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Silent_p.S240S|BRD9_ENST00000435709.2_Silent_p.S177S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	293	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCTCTGCGGTACTGTCCGTCA	0.627000													9	31					0	0	0.000151284	0	0
PCNX	22990	broad.mit.edu	37	14	71568760	71568760	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr14:71568760C>T	ENST00000304743.2	+	31	6089	c.5643C>T	c.(5641-5643)gcC>gcT	p.A1881A	PCNX_ENST00000238570.5_Silent_p.A1809A|PCNX_ENST00000439984.3_Silent_p.A1770A|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1881						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTATGAAGCCATAGTATCTC	0.408000													35	51					0	0	2.86225e-05	0	0
MMP17	4326	broad.mit.edu	37	12	132329745	132329745	+	Splice_Site	SNP	G	G	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:132329745G>C	ENST00000360564.1	+	7	1153	c.1051_splice	c.e7+1	p.G351_splice	MMP17_ENST00000535291.1_Splice_Site_p.G267_splice|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	351	Hemopexin-like 1.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTTCTTCAAAGGTACCTCCAG	0.652000													15	20					0	0	7.07596e-05	0	0
DST	667	broad.mit.edu	37	6	56504763	56504763	+	Silent	SNP	T	T	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:56504763T>C	ENST00000370754.5	-	18	2483	c.2484A>G	c.(2482-2484)gaA>gaG	p.E828E	DST_ENST00000421834.2_Silent_p.E650E|DST_ENST00000361203.3_Silent_p.E650E|DST_ENST00000244364.6_Silent_p.E324E|DST_ENST00000312431.6_Silent_p.E650E|DST_ENST00000370769.4_Silent_p.E650E|DST_ENST00000518935.1_Silent_p.E324E|DST_ENST00000370788.2_Silent_p.E650E|DST_ENST00000370765.6_Silent_p.E324E|DST_ENST00000446842.2_Silent_p.E324E			Q03001	DYST_HUMAN	dystonin	650					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGATTCAAATTCTTCAATAG	0.328000													37	94					0	0	0.000159656	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045093	16045093	+	Silent	SNP	A	A	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:16045093A>G	ENST00000326742.7	-	1	127	c.126T>C	c.(124-126)taT>taC	p.Y42Y	CYP4F11_ENST00000248041.7_Silent_p.Y42Y|CYP4F11_ENST00000402119.3_Silent_p.Y42Y			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	42					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGCAGTTGTCATAGAAGGTGT	0.642000													14	33					0	0	3.45872e-05	0	0
WFS1	7466	broad.mit.edu	37	4	6296913	6296913	+	Silent	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:6296913G>A	ENST00000226760.1	+	7	1028	c.858G>A	c.(856-858)ctG>ctA	p.L286L	WFS1_ENST00000503569.1_Silent_p.L286L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	286					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CACTGCGTCTGAAGGTGAGTG	0.647000													83	280					0	0	0.000147903	0	0
UMODL1	89766	broad.mit.edu	37	21	43508437	43508437	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr21:43508437G>A	ENST00000400427.1	+	5	817	c.421G>A	c.(421-423)Gtc>Atc	p.V141I	UMODL1_ENST00000408989.2_Missense_Mutation_p.V213I|UMODL1_ENST00000408910.2_Missense_Mutation_p.V213I|UMODL1_ENST00000400424.1_Missense_Mutation_p.V141I	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	213	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCCTCCACCGTCCACCACCT	0.637000													34	33					0	0	0.000132358	0	0
PI4KB	5298	broad.mit.edu	37	1	151282708	151282708	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:151282708A>T	ENST00000368875.2	-	4	1549	c.969T>A	c.(967-969)agT>agA	p.S323R	PI4KB_ENST00000368872.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.S311R|PI4KB_ENST00000271657.5_Missense_Mutation_p.S323R|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Intron	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	311					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATTATCAATACTCTCGGTGC	0.587000													7	12					0	0	0.000157383	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													6	107					0	0	3.86212e-05	0	0
ROCK1P1	727758	broad.mit.edu	37	18	116842	116842	+	RNA	SNP	T	T	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:116842T>C	ENST00000576266.1	+	0	189																											TTCATTTTAGTAAACTGTTTC	0.299000													17	7					0	0	7.16444e-05	0	0
STRIP2	57464	broad.mit.edu	37	7	129091519	129091519	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr7:129091519G>A	ENST00000249344.2	+	4	380	c.340G>A	c.(340-342)Gac>Aac	p.D114N	STRIP2_ENST00000435494.2_Missense_Mutation_p.D114N	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GGGACTCTTGGACCGGCTAGA	0.552000													38	26					0	0	6.26518e-05	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746165	77746165	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:77746165G>C	ENST00000409088.3	-	3	1244	c.830C>G	c.(829-831)cCc>cGc	p.P277R	LRRTM4_ENST00000409884.1_Missense_Mutation_p.P277R|LRRTM4_ENST00000409282.1_Missense_Mutation_p.P278R|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P278R|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P277R	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	277						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGTAAATTGGGGAGGCATTT	0.398000													13	16					0	0	0.00010058	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068368	103068368	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068368C>T	ENST00000264260.2	+	12	2116	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	IL18RAP_ENST00000409369.1_Silent_p.L367L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	509	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CACTGAAACTCATTTTAATTA	0.413000													29	44					0	0	8.91981e-05	0	0
TRPC6	7225	broad.mit.edu	37	11	101324406	101324406	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:101324406A>T	ENST00000344327.3	-	12	3043	c.2619T>A	c.(2617-2619)gaT>gaA	p.D873E	TRPC6_ENST00000532133.1_Missense_Mutation_p.D795E|TRPC6_ENST00000348423.4_Missense_Mutation_p.D757E|TRPC6_ENST00000360497.4_Missense_Mutation_p.D818E	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	873					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CACTCTCCTTATCTATCTGGG	0.448000													19	8					0	0	2.27731e-05	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1979365	1979365	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:1979365C>T	ENST00000255641.8	+	8	1311	c.816C>T	c.(814-816)cgC>cgT	p.R272R		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	272	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCAAACGCGCCACGCCCA	0.731000													4	5					0	0	8.12818e-05	0	0
CCDC51	79714	broad.mit.edu	37	3	48476289	48476289	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:48476289C>T	ENST00000395694.2	-	2	335	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000395696.1_Missense_Mutation_p.D84N|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000412398.2_5'UTR	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	84						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCATATCTGTCCCACCAAGTC	0.637000													13	88					0	0	2.31682e-05	0	0
GABRG1	2565	broad.mit.edu	37	4	46067413	46067413	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:46067413A>C	ENST00000295452.4	-	4	677	c.510T>G	c.(508-510)atT>atG	p.I170M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	170					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATCATTCCAAATTCGAAGCA	0.323000													58	90					0	0	0.000147903	0	0
SIDT1	54847	broad.mit.edu	37	3	113302286	113302286	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:113302286G>A	ENST00000264852.4	+	7	1504	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	SIDT1_ENST00000393830.3_Missense_Mutation_p.V260M	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	260						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCAGTTCTTCGTGGTATTTGT	0.453000													21	7					0	0	7.16444e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068417	103068417	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068417C>T	ENST00000264260.2	+	12	2165	c.1576C>T	c.(1576-1578)Ctc>Ttc	p.L526F	IL18RAP_ENST00000409369.1_Missense_Mutation_p.L384F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	526	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TCTACCTCATCTCGTGAAAAA	0.428000													45	82					0	0	0.000147903	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612392	54612392	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr7:54612392G>C	ENST00000302287.3	+	2	563	c.157G>C	c.(157-159)Ggc>Cgc	p.G53R	VSTM2A_ENST00000402026.2_Missense_Mutation_p.G52R|VSTM2A_ENST00000404951.1_Missense_Mutation_p.G53R|VSTM2A_ENST00000407838.3_Missense_Mutation_p.G53R|VSTM2A_ENST00000402613.3_Missense_Mutation_p.G53R			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	53	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CTTCCAGAGCGGCTCCGCCTC	0.647000													5	38					0	0	3.59834e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068354	103068354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068354C>T	ENST00000264260.2	+	12	2102	c.1513C>T	c.(1513-1515)Caa>Taa	p.Q505*	IL18RAP_ENST00000409369.1_Nonsense_Mutation_p.Q363*	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	505	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTTGGATGATCAAACACTGAA	0.408000													36	44					0	0	4.2857e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52192352	52192352	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:52192352A>T	ENST00000371471.2	-	4	3376	c.2951T>A	c.(2950-2952)cTg>cAg	p.L984Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.L984Q			O75362	ZN217_HUMAN	zinc finger protein 217	984					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTGAACAGTCAGCACATTTGG	0.552000													60	20					0	0	0.000147903	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068482	103068482	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068482C>T	ENST00000264260.2	+	12	2230	c.1641C>T	c.(1639-1641)ccC>ccT	p.P547P	IL18RAP_ENST00000409369.1_Silent_p.P405P	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	547	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGTTCCTCCCAATTCTAGGT	0.458000													65	113					0	0	0.000147903	0	0
LOC102546299	102546299	broad.mit.edu	37	5	164028160	164028160	+	RNA	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:164028160C>T	ENST00000486913.3	+	0	338				CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA																							CCGTTGTAGACGCCCACCCTG	0.592000													5	7					0	0	8.12818e-05	0	0
EXD1	161829	broad.mit.edu	37	15	41476511	41476511	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:41476511T>A	ENST00000314992.5	-	10	1353	c.1163A>T	c.(1162-1164)cAa>cTa	p.Q388L	EXD1_ENST00000458580.2_Missense_Mutation_p.Q446L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	388					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATTTGTAGCTTGTTTATTCAA	0.383000													40	6					0	0	6.26518e-05	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389081	19389081	+	Silent	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:19389081G>A	ENST00000338883.4	-	24	3395	c.3396C>T	c.(3394-3396)atC>atT	p.I1132I	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.I964I|MAP3K15_ENST00000359173.3_Silent_p.I567I	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1132							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTCACCTGGGATGAGAATGG	0.478000													37	48					0	0	0.000106405	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	48					0	0	1.23904e-05	0	0
CPS1	1373	broad.mit.edu	37	2	211460236	211460236	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:211460236C>T	ENST00000233072.5	+	13	1485	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.S436L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	430					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTCTAGGATCAGGAGGTCTG	0.378000													68	114					0	0	0.000147903	0	0
GABRG1	2565	broad.mit.edu	37	4	46067380	46067380	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:46067380C>T	ENST00000295452.4	-	4	710		c.e4+1			NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACCAATATTACCTTAGAGTAT	0.303000													44	73					0	0	0.000147903	0	0
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr17:45219355C>G	ENST00000066544.3	-	12	1508	c.1415G>C	c.(1414-1416)gGt>gCt	p.G472A	CDC27_ENST00000531206.1_Missense_Mutation_p.G478A|CDC27_ENST00000527547.1_Missense_Mutation_p.G471A|CDC27_ENST00000446365.2_Missense_Mutation_p.G411A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368000													7	162					0	0	8.12818e-05	0	0
CDH23	64072	broad.mit.edu	37	10	73375261	73375261	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:73375261G>A	ENST00000224721.6	+	9	853	c.847_splice	c.e9-1	p.G283_splice	CDH23_ENST00000461841.3_Splice_Site_p.G323_splice|CDH23_ENST00000398809.4_Splice_Site_p.G278_splice|CDH23_ENST00000398842.3_Splice_Site_p.G278_splice|CDH23_ENST00000299366.7_Splice_Site_p.G323_splice	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	278	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTCTTGCAGGGAATACCAAC	0.617000													9	1					0	0	3.86212e-05	0	0
RAVER1	125950	broad.mit.edu	37	19	10434111	10434111	+	Silent	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:10434111G>A	ENST00000293677.6	-	4	1020	c.939C>T	c.(937-939)ttC>ttT	p.F313F		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	296	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGGGGCGCAGAAGGAGACTC	0.716000													9	23					0	0	1.12685e-05	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA																							TGGGAATAATACGGCCATCCA	0.522000													4	43					0	0	2.56e-06	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119768707	119768707	+	Silent	SNP	C	C	G	rs139031897		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:119768707C>G	ENST00000355624.3	-	5	1780	c.1341G>C	c.(1339-1341)ggG>ggC	p.G447G	RAB11FIP2_ENST00000369199.3_Silent_p.G467G|RAB11FIP2_ENST00000476207.1_5'UTR	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	447	FIP-RBD.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACTACGATACCCTGCAGTGG	0.453000													49	14					0	0	0.000147903	0	0
ATG2A	23130	broad.mit.edu	37	11	64669847	64669847	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:64669847A>C	ENST00000421419.2	-	28	3909	c.3795T>G	c.(3793-3795)agT>agG	p.S1265R	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1263R			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1263							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAGAGGCAGGACTCTCCGAGA	0.701000													3	4					0	0	2.56e-06	0	0
AGRN	375790	broad.mit.edu	37	1	982226	982226	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:982226G>A	ENST00000379370.2	+	19	3327	c.3277G>A	c.(3277-3279)Gtg>Atg	p.V1093M		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1093	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGCAGCAGCGTGGCCACCCC	0.687000													4	1					0	0	1.23904e-05	0	0
NEURL1	9148	broad.mit.edu	37	10	105331479	105331479	+	Silent	SNP	C	C	T	rs142246980		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:105331479C>T	ENST00000369780.4	+	3	958	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NEURL_ENST00000369777.2_Silent_p.N166N|NEURL_ENST00000465048.1_3'UTR	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		183	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACCGCATCAACGACTCGGCTG	0.637000													24	5					0	0	2.25844e-05	0	0
PRPH2	5961	broad.mit.edu	37	6	42689566	42689566	+	Silent	SNP	G	G	A	rs143096101		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:42689566G>A	ENST00000230381.5	-	1	746	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	169			Missing (in some patients with macular dystrophy).		cell adhesion|visual perception	integral to membrane		p.N169N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCCGAAAACCGTTGTTGCCGC	0.512000													64	140					0	0	0.000147903	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	7					0	0	6.4e-05	0	0
GGN	199720	broad.mit.edu	37	19	38877378	38877378	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:38877378G>A	ENST00000334928.6	-	3	656	c.524C>T	c.(523-525)cCa>cTa	p.P175L	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	175	Interaction with GGNBP1 (By similarity).|Pro-rich.			PP -> SR (in Ref. 1; AAP31500).	cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGTAATGGTGGTGGCGGCTT	0.677000													8	15					0	0	3.86212e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068314	103068314	+	Silent	SNP	C	C	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068314C>T	ENST00000264260.2	+	12	2062	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	IL18RAP_ENST00000409369.1_Silent_p.I349I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	491	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.I491I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCCAGTATCTTTGAACTAC	0.383000													47	48					0	0	0.000147903	0	0
CNGA2	1260	broad.mit.edu	37	X	150911807	150911807	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:150911807C>G	ENST00000329903.4	+	6	865	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	278					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CATCAGCAACCTTGTCCTCTA	0.512000													19	88					0	0	0.000132079	0	0
FMO1	2326	broad.mit.edu	37	1	171254418	171254418	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:171254418C>G	ENST00000354841.4	+	8	1465	c.1334C>G	c.(1333-1335)gCa>gGa	p.A445G	FMO1_ENST00000367750.3_Missense_Mutation_p.A445G|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.A382G			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	445					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATATCAATGCAAAACCCAAC	0.458000													6	99					0	0	0.000157383	0	0
LY75	4065	broad.mit.edu	37	2	160734989	160734989	+	Silent	SNP	G	G	A	rs34313381		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:160734989G>A	ENST00000263636.4	-	11	1647	c.1620C>T	c.(1618-1620)taC>taT	p.Y540Y	LY75_ENST00000553424.1_Silent_p.Y540Y|LY75-CD302_ENST00000505052.1_Silent_p.Y540Y|LY75-CD302_ENST00000504764.1_Silent_p.Y540Y|LY75_ENST00000554112.1_Silent_p.Y540Y	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AATCATTTAGGTATTCTTGCT	0.353000													25	35					0	0	9.22233e-05	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850					NR_040113.1																						CTCACCTAATGTATAAGATGGA	0.327													10	168	---	---	---	---					
HCN1	348980	broad.mit.edu	37	5	45695987	45695995	+	In_Frame_Del	DEL	CCGCCGCCA	CCGCCGCCA	-	rs56064803	byFrequency	TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:45695987_45695995delCCGCCGCCA	ENST00000303230.4	-	1	258_266	c.201_209delTGGCGGCGG	c.(199-210)ggc>gg	p.GGGG71del		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	71	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G72_G74delGGG(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gccgccgccgccgccgccaccgccgccac	0.770													11	8	---	---	---	---					
DEFB113	245927	broad.mit.edu	37	6	49936566	49936566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:49936566delT	ENST00000398718.1	-	2	72	c.73delA	c.(73-75)cafs	p.T25fs		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	25					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					ACTTCTCTTGTTTTTTTCTGT	0.353													21	47	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679315	6679316	+	RNA	DEL	CC	CC	-	rs58387909	by1000genomes	TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr8:6679315_6679316delCC	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		cacacacacaccccccacacac	0.406													4	5	---	---	---	---					
BTAF1	9044	broad.mit.edu	37	10	93719631	93719633	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:93719631_93719633delTGA	ENST00000265990.6	+	10	1388_1390	c.1080_1082delTGA	c.(1078-1083)tct>tc	p.SD360del	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	360					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)				ACTTTGTTTCTGATGAAGTAAGT	0.335													27	10	---	---	---	---					
FAM179B	23116	broad.mit.edu	37	14	45478274	45478274	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr14:45478274delC	ENST00000361462.2	+	6	3246	c.3063delC	c.(3061-3063)tafs	p.Y1021fs	FAM179B_ENST00000382233.2_Intron|FAM179B_ENST00000361577.3_Frame_Shift_Del_p.Y1021fs|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1021	Ser-rich.						binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCAATTCTTACAGTGAAAGTG	0.418													27	39	---	---	---	---					
BLM	641	broad.mit.edu	37	15	91304286	91304288	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:91304286_91304288delTGA	ENST00000355112.3	+	7	1801_1803	c.1683_1685delTGA	c.(1681-1686)ttt>tt	p.FD561del	BLM_ENST00000560509.1_In_Frame_Del_p.FD561del	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	561	Poly-Asp.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGATGACTTTGATGATGATGAT	0.374			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				8	1086	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													6	6	---	---	---	---					
