Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IGLON5_chr19_51306644_51335891	51311155	GCTCCAGG others(138): Show GCTCCAGGGTCTGAGAGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGCCTGGACTCCTGGGCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0010 a0007c0005t0010	a0007c0005t0010g0083 a0007c0005t0010g0083	1	418	0.0024	-145	c.-69 others(9): Show c.-692_-548del	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		488		chr19	TogoVar
IGLON5_chr19_51306644_51335891	51311160	AGGGTCTG others(138): Show AGGGTCTGAGAGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTGGGCTGAGGGAGGAGGGGCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01081.hp2 others(32): Show HG00639.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA18968.hp1 NA19001.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0029 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0053 a0001c0001t0061 a0001c0001t0067 a0001c0001t0073 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082	a0001c0001t0001g0011 a0001c0001t0003g0011 a0001c0001t0003g0076 others(29): Show a0001c0001t0001g0011 a0001c0001t0003g0011 a0001c0001t0003g0076 a0001c0001t0004g0012 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0095 a0001c0001t0004g0098 a0001c0001t0007g0074 a0001c0001t0008g0081 a0001c0001t0010g0012 a0001c0001t0010g0079 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0010g0093 a0001c0001t0029g0084 a0001c0001t0042g0096 a0001c0001t0044g0094 a0001c0001t0046g0092 a0001c0001t0048g0012 a0001c0001t0050g0091 a0001c0001t0053g0097 a0001c0001t0061g0073 a0001c0001t0067g0082 a0001c0001t0073g0085 a0001c0001t0077g0077 a0001c0001t0079g0088 a0001c0001t0080g0075 a0001c0001t0082g0030	35	418	0.0837	-145	c.-68 others(9): Show c.-687_-543del	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		483		chr19	TogoVar
IL1RAPL2_chrX_104561199_105772829	104585256	TATATATA others(138): Show TATATATATAATATATTATATATATTATATAATATATTATATATTATATA TTATATAATATATATTATATATAATATATATTATATATTATATATATTAT ATATATTATATATATTATATATAATATATATTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	141	0.0071	-145	c.-20 others(19): Show c.-20+18215_-20+18359del	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB5_chr3_124756948_124892365	124789381	ACAGAACC others(138): Show ACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03139.hp1 HG03139.hp2 others(6): Show HG00642.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03491.hp2 NA18906.hp1 NA19007.hp1 NA19056.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0006t0002	a0001c0001t0001g0123 a0001c0001t0001g0211 a0001c0001t0002g0139 others(6): Show a0001c0001t0001g0123 a0001c0001t0001g0211 a0001c0001t0002g0139 a0001c0001t0002g0155 a0001c0001t0002g0240 a0001c0001t0002g0251 a0001c0001t0018g0242 a0001c0006t0002g0276 a0001c0006t0002g0277	9	352	0.0256	-145	c.169 others(19): Show c.1693+6862_1693+7006del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789932	TCAGAACC others(138): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02895.hp2 HG03471.hp2 HG01109.hp1 HG02895.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0095 a0001c0001t0007g0003 a0001c0001t0007g0010 a0001c0001t0001g0095 a0001c0001t0007g0003 a0001c0001t0007g0010	3	352	0.0085	-145	c.169 others(19): Show c.1693+6311_1693+6455del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789961	TCAGAACC others(138): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTAACAGAACCGCCTCTGACTAGACAGGGTTAT	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	352	0.0028	-145	c.169 others(19): Show c.1693+6282_1693+6426del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124790106	TCAGAACC others(138): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18972.hp2 HG01071.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0168 a0001c0001t0007g0001 a0001c0001t0002g0168 a0001c0001t0007g0001	2	352	0.0057	-145	c.169 others(19): Show c.1693+6137_1693+6281del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
KCNJ6_chr21_37602373_37921457	37757151	GAATCCAG others(138): Show GAATCCAGCTTGGAGTGAGCACTCCCTCACAGTGTGATGGTACCAGCCTT GGTGAGCTGTCTCTCACAGTGTGATGATTCCAGCCTGGAGTGAGCACTCC CTCACAGTGTGATGATTCCAGCCTGGAGTGAGCACTCCCTCACAGC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0055 a0001c0001t0088g0055	1	198	0.0051	-145	c.26- others(17): Show c.26-42165_26-42021del	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KHDRBS3_chr8_135452456_135652610	135535225	AATAAACT others(138): Show AATAAACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTT AAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTAT ATATAGTTAAACTATATATAAACTATTATATATAGTTAAACTATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG03041.hp1 others(4): Show HG01243.hp1 HG02717.hp1 HG03041.hp1 HG03130.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 others(4): Show a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0002g0256 a0001c0001t0003g0249	7	342	0.0205	-145	c.208 others(17): Show c.208-7350_208-7206del	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIF16B_chr20_16267104_16578448	16395228	GGAGGAGA others(138): Show GGAGGAGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGGGAGG AGAGGGGAGGCCAAGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGG GGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00741.hp2 others(13): Show HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01433.hp2 HG01928.hp2 HG02257.hp2 HG02735.hp2 HG03017.hp2 HG03688.hp2 HG03831.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0010 others(2): Show a0001c0001 a0001c0006 a0001c0010 a0001c0014 a0002c0018	a0001c0001t0003 a0001c0006t0002 a0001c0006t0003 others(6): Show a0001c0001t0003 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0003 a0001c0010t0008 a0001c0014t0003 a0002c0018t0001	a0001c0001t0003g0161 a0001c0006t0002g0110 a0001c0006t0003g0108 others(13): Show a0001c0001t0003g0161 a0001c0006t0002g0110 a0001c0006t0003g0108 a0001c0006t0003g0111 a0001c0006t0003g0112 a0001c0006t0003g0118 a0001c0006t0004g0214 a0001c0006t0007g0100 a0001c0006t0007g0102 a0001c0006t0007g0113 a0001c0006t0007g0117 a0001c0010t0003g0025 a0001c0010t0003g0043 a0001c0010t0008g0124 a0001c0014t0003g0199 a0002c0018t0001g0194	16	250	0.0640	-145	c.178 others(19): Show c.1784+9440_1784+9584del	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25			chr20	TogoVar
KIF26B_chr1_245149985_245714432	245442787	CAGCGGTC others(138): Show CAGCGGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTG TTCACCTACAGCGGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTC CCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp2 others(10): Show HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01109.hp2 HG01243.hp1 HG02257.hp2 HG02630.hp1 HG02647.hp2 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 HG06807.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0017	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0001c0046 a0002c0008 a0002c0056 a0013c0036 a0017c0039	a0001c0001t0029 a0001c0002t0019 a0001c0002t0077 others(10): Show a0001c0001t0029 a0001c0002t0019 a0001c0002t0077 a0001c0002t0078 a0001c0002t0085 a0001c0004t0007 a0001c0007t0016 a0001c0010t0015 a0001c0046t0057 a0002c0008t0004 a0002c0056t0034 a0013c0036t0011 a0017c0039t0042	a0001c0001t0029g0094 a0001c0002t0019g0144 a0001c0002t0077g0063 others(10): Show a0001c0001t0029g0094 a0001c0002t0019g0144 a0001c0002t0077g0063 a0001c0002t0078g0005 a0001c0002t0085g0001 a0001c0004t0007g0019 a0001c0007t0016g0054 a0001c0010t0015g0068 a0001c0046t0057g0079 a0002c0008t0004g0105 a0002c0056t0034g0141 a0013c0036t0011g0135 a0017c0039t0042g0146	13	160	0.0813	-145	c.116 others(21): Show c.1166+23071_1166+23215del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245442816	CAGCGGTC others(138): Show CAGCGGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTG TTCACCTACAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTC CCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	160	0.0063	-145	c.116 others(21): Show c.1166+23100_1166+23244del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245442906	CGGTCATC others(138): Show CGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTC ACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCT CACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 NA20129.hp1 HG02647.hp1 HG02809.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0008 a0001c0007t0008 a0002c0003t0004 a0001c0001t0008 a0001c0007t0008 a0002c0003t0004	a0001c0001t0008g0118 a0001c0007t0008g0067 a0002c0003t0004g0092 a0001c0001t0008g0118 a0001c0007t0008g0067 a0002c0003t0004g0092	3	160	0.0188	-145	c.116 others(21): Show c.1166+23213_1166+23357del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK7_chr19_50971468_50988917	50982930	GCCTCCCT others(138): Show GCCTCCCTCAGACCTAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGAC CTAGGAGTCCAGGTCCAAGTCCCTCCTCCCTCAGGCTCAGGAGTCCAGGC CCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(129): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18956.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0002t0003 a0001c0002t0006 a0001c0010t0002 a0003c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0020 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0004g0139 a0001c0001t0007g0159 a0001c0001t0009g0151 a0001c0001t0017g0170 a0001c0002t0003g0172 a0001c0002t0006g0152 a0001c0002t0006g0158 a0001c0010t0002g0145 a0003c0009t0001g0144	132	384	0.3438	-145	c.-58 others(15): Show c.-58-618_-58-474del	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
LCN15_chr9_136754634_136769518	136769373	CCCCCCGC others(138): Show CCCCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCC CCATGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCC CGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	356	0.0028	-145	c.-50 others(11): Show c.-5030_-4886del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4856		chr9	TogoVar
LOC400499_chr16_11367015_11532247	11486265	GGATGGAG others(138): Show GGATGGAGGGATGGATGGATGGATGGATGGATGAATGGTACATGGGTAGA CAGATGATGGGTGGGTAGATGAATGAATGATGGCTGGATAGATGAATGAA TGATGGCTGGGTGGGTGTGTGGTTTGGTAAATGGATTGAGTGAATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG01169.hp1 others(16): Show HG00597.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02602.hp2 HG02647.hp1 HG02735.hp1 HG04115.hp1 NA18964.hp2 NA18977.hp1 NA18985.hp1 NA18986.hp1 NA19060.hp2 NA19065.hp1 NA19079.hp2 NA20300.hp1	a0002 a0004 a0005 others(13): Show a0002 a0004 a0005 a0021 a0042 a0045 a0115 a0122 a0123 a0125 a0130 a0142 a0236 a0237 a0250 a0251	a0002c0014 a0004c0013 a0005c0129 others(13): Show a0002c0014 a0004c0013 a0005c0129 a0021c0015 a0042c0044 a0045c0103 a0115c0128 a0122c0131 a0123c0126 a0125c0127 a0130c0132 a0142c0125 a0236c0267 a0237c0236 a0250c0049 a0251c0050	a0002c0014t0001 a0002c0014t0003 a0004c0013t0001 others(14): Show a0002c0014t0001 a0002c0014t0003 a0004c0013t0001 a0005c0129t0003 a0021c0015t0002 a0042c0044t0004 a0045c0103t0003 a0115c0128t0001 a0122c0131t0002 a0123c0126t0005 a0125c0127t0002 a0130c0132t0004 a0142c0125t0003 a0236c0267t0003 a0237c0236t0001 a0250c0049t0002 a0251c0050t0002	a0002c0014t0001g0151 a0002c0014t0003g0123 a0004c0013t0001g0208 others(16): Show a0002c0014t0001g0151 a0002c0014t0003g0123 a0004c0013t0001g0208 a0004c0013t0001g0250 a0005c0129t0003g0209 a0021c0015t0002g0063 a0021c0015t0002g0064 a0042c0044t0004g0268 a0045c0103t0003g0289 a0115c0128t0001g0281 a0122c0131t0002g0263 a0123c0126t0005g0004 a0125c0127t0002g0299 a0130c0132t0004g0062 a0142c0125t0003g0237 a0236c0267t0003g0262 a0237c0236t0001g0106 a0250c0049t0002g0057 a0251c0050t0002g0194	19	310	0.0613	-145	c.201 others(17): Show c.2013+852_2013+996del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	15/66			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132358302	GAGCGTGG others(138): Show GAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGGAGCCGAGG TGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGG AGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGC	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19005.hp1 NA18951.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0230 a0001c0002t0003g0231	2	290	0.0069	-145	c.117 others(19): Show c.1170+2497_1170+2641del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358383	ATGGAGCA others(138): Show ATGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAG CCGAGGTGATGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTG GGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(39): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02300.hp1 HG02559.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA18950.hp1 NA18998.hp2 NA19074.hp1 NA19087.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0041 a0001c0001t0047 a0001c0001t0048 a0001c0003t0007 a0001c0005t0008 a0001c0005t0015 a0001c0010t0033 a0001c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0148 a0001c0001t0001g0149 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0288 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0285 a0001c0001t0003g0155 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0011g0219 a0001c0001t0013g0122 a0001c0001t0013g0131 a0001c0001t0013g0132 a0001c0001t0021g0287 a0001c0001t0041g0218 a0001c0001t0047g0286 a0001c0001t0048g0190 a0001c0003t0007g0093 a0001c0005t0008g0225 a0001c0005t0015g0223 a0001c0005t0015g0224 a0001c0010t0033g0109 a0001c0011t0001g0102	42	290	0.1448	-145	c.117 others(19): Show c.1170+2506_1170+2650del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579102	CCACCACC others(138): Show CCACCACCATCACCATCACCACTACCACCACCACCACCATCACCACCACC ATCACCATCACCACCACCACCACCACCATCACCATCACCAGCACCACCAC CATCACCATCACCACCACCACCACCACCATCACCACCACCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0057 a0003c0007t0013g0057	1	362	0.0028	-145	c.391 others(15): Show c.391+619_391+763del	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L5_chr19_7025578_7038011	7035810	ATAATATA others(138): Show ATAATATAATTATATAACATATAAATTATATTATATATATAATATAATTA TATAACATATAAATTATATTATATATAATATAATTCTATAACATATAAAT TATATTATATATAATATAATTATATAACATATAAATTATATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0018 a0009c0012t0002g0018	1	249	0.0040	-145	c.29 others(11): Show c.2917_*3061del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2800		chr19	TogoVar
METTL23_chr17_76721839_76738880	76732086	TGTGGCTC others(138): Show TGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGA TCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCC AGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01891.hp1 others(11): Show HG01099.hp1 HG01884.hp1 HG01891.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp2 HG02970.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0001t0001g0071 a0004c0004t0001g0008	14	412	0.0340	-145	c.85- others(13): Show c.85-871_85-727del	METTL23	ENSG00000181038.14	transcript	ENST00000341249.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237544497	GGTGAGTG others(138): Show GGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACAGTTGTTGAGTTGGG GGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGT GTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGCACTGTA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0256 a0003c0003t0002g0256	1	286	0.0035	-145	c.153 others(19): Show c.1539+1866_1540-1937del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544525	GGGGGACA others(138): Show GGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTG TTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAG TGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG03491.hp1 others(1): Show HG02145.hp1 HG02896.hp1 HG03491.hp1 HG03492.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0003c0003t0005 a0007c0007t0002 a0003c0003t0001 a0003c0003t0005 a0007c0007t0002	a0003c0003t0001g0267 a0003c0003t0005g0266 a0007c0007t0002g0227 others(1): Show a0003c0003t0001g0267 a0003c0003t0005g0266 a0007c0007t0002g0227 a0007c0007t0002g0228	4	286	0.0140	-145	c.153 others(19): Show c.1539+1869_1540-1934del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP11_chr22_23767849_23789316	23777139	CAGGCCGG others(138): Show CAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCC GAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGAT GGATAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02055.hp1 HG02074.hp1 others(31): Show HG01433.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18962.hp1 NA19043.hp2 NA19068.hp1 NA19079.hp1 NA19089.hp1 NA20905.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0002c0007 a0003c0003 others(1): Show a0002c0002 a0002c0007 a0003c0003 a0005c0009	a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0007t0003 a0003c0003t0004 a0003c0003t0007 a0005c0009t0004	a0002c0002t0001g0008 a0002c0002t0003g0008 a0002c0002t0003g0014 others(13): Show a0002c0002t0001g0008 a0002c0002t0003g0008 a0002c0002t0003g0014 a0002c0002t0003g0039 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0008g0008 a0002c0007t0003g0050 a0002c0007t0003g0051 a0003c0003t0004g0009 a0003c0003t0004g0035 a0003c0003t0004g0036 a0003c0003t0004g0037 a0003c0003t0007g0030 a0003c0003t0007g0034 a0005c0009t0004g0009	34	411	0.0827	-145	c.109 others(17): Show c.109-2043_109-1899del	MMP11	ENSG00000099953.10	transcript	ENST00000215743.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
MOK_chr14_102223836_102310164	102294100	GACCAGCC others(138): Show GACCAGCCTGGGTAACATGGTGAAATCTTGTCTCTACCAAAAATACAAAA AAATTAGCCAGGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0249 a0002c0004t0002g0249	1	252	0.0040	-145	c.8-1 others(15): Show c.8-10653_8-10509del	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	1/11			chr14	TogoVar
MTRR_chr5_7864148_7906113	7883371	CTGCTTGG others(138): Show CTGCTTGGTTACATATGCTGAGTTGTGTGCGGCTTGGTTACATGTGCTGA GTTGTGTGGTGCTTGGTTACATATGCTGAGTTGTGTGGTGCTTGGTTACA TATGCTGAGTTGTGTGGTGCTTGGTTACATATGCTGAGTTGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(55): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG04115.hp1 HG04204.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18986.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp1	a0005 a0007 a0005 a0007	a0005c0005 a0007c0007 a0005c0005 a0007c0007	a0005c0005t0001 a0005c0005t0006 a0005c0005t0014 others(2): Show a0005c0005t0001 a0005c0005t0006 a0005c0005t0014 a0005c0005t0015 a0007c0007t0001	a0005c0005t0001g0008 a0005c0005t0001g0014 a0005c0005t0001g0043 others(34): Show a0005c0005t0001g0008 a0005c0005t0001g0014 a0005c0005t0001g0043 a0005c0005t0001g0044 a0005c0005t0001g0045 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0005t0001g0206 a0005c0005t0001g0209 a0005c0005t0001g0210 a0005c0005t0001g0221 a0005c0005t0001g0226 a0005c0005t0001g0227 a0005c0005t0001g0228 a0005c0005t0001g0232 a0005c0005t0001g0233 a0005c0005t0006g0197 a0005c0005t0006g0198 a0005c0005t0006g0199 a0005c0005t0006g0200 a0005c0005t0014g0207 a0005c0005t0015g0201 a0007c0007t0001g0003 a0007c0007t0001g0046 a0007c0007t0001g0105 a0007c0007t0001g0208 a0007c0007t0001g0211 a0007c0007t0001g0212 a0007c0007t0001g0213 a0007c0007t0001g0214 a0007c0007t0001g0215 a0007c0007t0001g0222 a0007c0007t0001g0223 a0007c0007t0001g0230 a0007c0007t0001g0236	58	428	0.1355	-145	c.903 others(15): Show c.903+123_903+267del	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYZAP_chr15_57586904_57690364	57688159	TGTGTGTA others(138): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATT ATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	352	0.0028	-145	c.36 others(11): Show c.3662_*3806del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2796		chr15	TogoVar
NEU4_chr2_241804193_241822413	241806123	TCCCCCCT others(138): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02559.hp1 HG02717.hp2 HG00733.hp1 HG02559.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0043 a0001c0001t0003g0051 a0002c0003t0002g0149 a0001c0001t0003g0043 a0001c0001t0003g0051 a0002c0003t0002g0149	3	319	0.0094	-145	c.-31 others(11): Show c.-3154_-3010del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3069		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806918	TCCCCCCT others(138): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	319	0.0031	-145	c.-23 others(11): Show c.-2359_-2215del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2274		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995048	CTGTATAT others(138): Show CTGTATATATGTACAGTATGTATACTGTATATGTGTACAGTATGTATATG TGTACAGTATGTATATGTGTACAGTATGTATATATGTACAGTATGTATAT ATGTACAGTATGTATACTGTATATGTGTACAGTATGTATGCTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	362	0.0028	-145	c.-75 others(19): Show c.-75+17875_-75+18019del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NMNAT3_chr3_139555191_139682972	139583495	TTCTGAAG others(138): Show TTCTGAAGCTATGGAAGTAGTTTGTGACTGTTTTGTTTCCACAAAGTTTG AATTATTTTCTTCACTTCATTTGAGAAATATAGGTGGATTGAGAGACATT CTTCATTCAAACAAAAGTTTAACAGCTATTTCTAAAACACATATCA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01496.hp2 HG02257.hp2 others(7): Show HG01175.hp1 HG01496.hp2 HG02257.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0281 a0001c0002t0001g0122 a0001c0002t0001g0124 others(7): Show a0001c0001t0001g0281 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0175 a0001c0002t0001g0195 a0001c0002t0002g0040 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047	10	322	0.0311	-145	c.110 others(17): Show c.110-4585_110-4441del	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NXNL1_chr19_17450425_17465926	17463791	GAAGAAGA others(138): Show GAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAAAGAAGAAGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0024 a0001c0006t0001g0024	1	408	0.0025	-145	c.-30 others(11): Show c.-3067_-2923del	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2866		chr19	TogoVar
NXN_chr17_794310_984776	893705	ATGCCCTG others(138): Show ATGCCCTGGAAGCCAGAGGAAGCATCTCAACCCCTGGAAGCCAGAGGAAG CATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCC AGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01070.hp1 others(2): Show HG00323.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0136 a0001c0001t0002g0167 a0001c0001t0005g0032 others(2): Show a0001c0001t0002g0136 a0001c0001t0002g0167 a0001c0001t0005g0032 a0001c0001t0015g0239 a0001c0001t0015g0240	5	242	0.0207	-145	c.361 others(19): Show c.361-67772_361-67628del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR6J1_chr14_22625929_22649352	22637584	TGGGGGGG others(138): Show TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20805.hp1 HG00639.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0050 a0002c0002t0002 a0002c0002t0050	a0002c0002t0002g0248 a0002c0002t0050g0125 a0002c0002t0002g0248 a0002c0002t0050g0125	2	362	0.0055	-145	c.-27 others(17): Show c.-27-2891_-27-2747del	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OTUD7A_chr15_31470398_31875673	31511392	TATATATG others(138): Show TATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACACATATATGTATAT CTATATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01943.hp2 HG01175.hp1 HG01175.hp2 HG01943.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0008 a0001c0001 a0002c0003 a0002c0008	a0001c0001t0004 a0002c0003t0009 a0002c0008t0017 a0001c0001t0004 a0002c0003t0009 a0002c0008t0017	a0001c0001t0004g0100 a0002c0003t0009g0117 a0002c0008t0017g0090 a0001c0001t0004g0100 a0002c0003t0009g0117 a0002c0008t0017g0090	3	244	0.0123	-145	c.894 others(17): Show c.894-7719_894-7575del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PADI1_chr1_17200128_17251007	17241630	TCAGGGTT others(138): Show TCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGT GAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAAAGTCGGAATCG GGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATC	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	406	0.0025	-145	c.175 others(18): Show c.1758+871_1758+1015del	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15			chr1	TogoVar
PKP3_chr11_389209_409908	398468	GTACCCCC others(138): Show GTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCA TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0123 a0001c0012t0001g0123	1	216	0.0046	-145	c.106 others(17): Show c.1069-506_1069-362del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402462	CCCCGGAC others(138): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGC CCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	216	0.0046	-145	c.173 others(17): Show c.1738-612_1738-468del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG7_chr12_92697989_92777455	92728227	GTGTATAT others(138): Show GTGTATATATAAATATATATACACACCACATTCCATGGTGTATATATAAA TATATATACACACCACATTCCATGGTGTATATATAAATATATATACACAC CACATTCCATGGTGTATATATAAATATATATACACACCACATTCCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0021 a0016c0029t0001g0021	1	252	0.0040	-145	c.531 others(15): Show c.531-763_531-619del	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRDM16_chr1_3064203_3443621	3287505	GCCCCGCC others(138): Show GCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCC CCCTGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCTGCCC CTGCCATGCGGGCATCGAGGATTGCATTTACCGGGGCTGGAGCCGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02004.hp2 others(9): Show HG01243.hp1 HG01891.hp2 HG02004.hp2 HG02109.hp2 HG02280.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02965.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0015	a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 others(8): Show a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0077 a0001c0001t0087 a0001c0004t0010 a0001c0004t0073 a0001c0006t0039 a0001c0008t0002 a0002c0015t0014	a0001c0001t0012g0041 a0001c0001t0012g0129 a0001c0001t0020g0105 others(9): Show a0001c0001t0012g0041 a0001c0001t0012g0129 a0001c0001t0020g0105 a0001c0001t0022g0061 a0001c0001t0028g0111 a0001c0001t0077g0036 a0001c0001t0087g0062 a0001c0004t0010g0032 a0001c0004t0073g0143 a0001c0006t0039g0140 a0001c0008t0002g0059 a0002c0015t0014g0073	12	210	0.0571	-145	c.438 others(19): Show c.438+43373_438+43517del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	TATACTGC others(138): Show TATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATT GGTACAATAATACTGCACCAATTATCATTGGTACAATAATACTGCACCAA TTATCATTGGTACAATAATACTGCACCAATTATCATTGGTACAATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00673.hp1 others(22): Show HG00408.hp2 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01168.hp1 HG01934.hp1 HG01952.hp1 HG02040.hp2 HG03834.hp1 HG03942.hp2 NA18942.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18981.hp2 NA18989.hp2 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19056.hp1 NA19063.hp1 NA19068.hp2 NA19074.hp2 NA21309.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0011 a0023	a0002c0002 a0002c0025 a0003c0003 others(3): Show a0002c0002 a0002c0025 a0003c0003 a0004c0004 a0011c0041 a0023c0036	a0002c0002t0001 a0002c0002t0002 a0002c0002t0017 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0017 a0002c0025t0001 a0003c0003t0004 a0003c0003t0015 a0004c0004t0001 a0004c0004t0002 a0004c0004t0017 a0011c0041t0001 a0023c0036t0002	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0046 others(22): Show a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0046 a0002c0002t0001g0054 a0002c0002t0001g0070 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0115 a0002c0002t0001g0139 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0219 a0002c0002t0002g0048 a0002c0002t0017g0080 a0002c0025t0001g0083 a0003c0003t0004g0144 a0003c0003t0015g0067 a0004c0004t0001g0021 a0004c0004t0002g0193 a0004c0004t0017g0036 a0011c0041t0001g0110 a0023c0036t0002g0189	25	240	0.1042	-145	c.756 others(19): Show c.756+32279_756+32423del	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PUM1_chr1_30926506_31070717	30972322	GGGAGGGG others(138): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	334	0.0030	-145	c.150 others(19): Show c.1506+2184_1506+2328del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
RGS12_chr4_3288021_3444913	3341539	GGGGGAGG others(138): Show GGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAG AGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGATGGGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02976.hp1 HG00735.hp1 HG02976.hp1	a0002 a0010 a0002 a0010	a0002c0011 a0010c0032 a0002c0011 a0010c0032	a0002c0011t0001 a0010c0032t0001 a0002c0011t0001 a0010c0032t0001	a0002c0011t0001g0221 a0010c0032t0001g0196 a0002c0011t0001g0221 a0010c0032t0001g0196	2	312	0.0064	-145	c.188 others(19): Show c.1882-1273_1882-1129del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF115_chr1_145733868_145829095	145766797	GGGGGGGG others(138): Show GGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG TCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG03098.hp1 HG01175.hp2 HG02055.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0104 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0104	3	272	0.0110	-145	c.428 others(17): Show c.428+4769_428+4913del	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RYR1_chr19_38428691_38592564	38540486	ATAATAAA others(138): Show ATAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATAT ACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAATCTCC AATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01169.hp1 HG02559.hp2 others(2): Show HG01109.hp1 HG01169.hp1 HG02559.hp2 HG03130.hp2 HG03453.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0018	a0001c0056 a0001c0067 a0004c0072 others(2): Show a0001c0056 a0001c0067 a0004c0072 a0007c0038 a0018c0083	a0001c0056t0001 a0001c0067t0001 a0004c0072t0001 others(2): Show a0001c0056t0001 a0001c0067t0001 a0004c0072t0001 a0007c0038t0002 a0018c0083t0002	a0001c0056t0001g0135 a0001c0067t0001g0183 a0004c0072t0001g0125 others(2): Show a0001c0056t0001g0135 a0001c0067t0001g0183 a0004c0072t0001g0125 a0007c0038t0002g0215 a0018c0083t0002g0211	5	218	0.0229	-145	c.116 others(21): Show c.11689+2621_11690-2622del	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43281220	CCTCAGTC others(138): Show CCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCT CAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTG GCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0087 a0004c0028t0087	a0004c0028t0087g0273 a0004c0028t0087g0273	1	280	0.0036	-145	c.484 others(17): Show c.484+9681_484+9825del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SENP1_chr12_48037897_48111079	48056490	CATATTAC others(138): Show CATATTACATATATAAATATATTATTTAATATATTACATATATAAATATA TTATTTAATATATTACATATATAAATATATTATTTAATATATTACATATA TAAATATATTATTTAATATATTACATATATAAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00609.hp1 others(16): Show HG00323.hp2 HG00597.hp1 HG00609.hp1 HG01070.hp2 HG01099.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02165.hp1 HG02280.hp2 HG02602.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp2 NA18949.hp1 NA18968.hp1 NA18999.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0042 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0127 a0001c0001t0018g0053 a0001c0001t0019g0093 a0001c0001t0020g0038 a0001c0001t0021g0117 a0001c0001t0022g0132	19	394	0.0482	-145	c.140 others(19): Show c.1407+7075_1407+7219del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SLC16A3_chr17_82224042_82245086	82224280	GTGCAGAC others(138): Show GTGCAGACACACCCCTACACCTGTGCAGTCACCTGTGCAGACACACCCCT ACACCTGTGCAGTCACCTGTGCAGACACACCCCTACACCCGTGCAGTCAC CTGTGCAGACACACCCCTACACCCGTGCAGACACACCCCTACACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	410	0.0024	-145	c.-48 others(11): Show c.-4852_-4708del	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		4761		chr17	TogoVar
SLC16A3_chr17_82224042_82245086	82224404	GTGCAGAC others(138): Show GTGCAGACACACCCCTACACCTTGCAGTCACCTGTGCAGACACACCCCTA CACCCGTGCAGACACACCCCTACACCTGTGCAGTCACCTGTGCAGACACA CCCCTACACCCGTGCAGTCACCTGTGCAGACACACCCCTACACCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG03453.hp1 HG02622.hp1 HG02818.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0010g0184 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0010g0184	3	410	0.0073	-145	c.-47 others(11): Show c.-4728_-4584del	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		4637		chr17	TogoVar
SNTG2_chr2_945849_1372613	1222802	CCTGCTGC others(138): Show CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATG GAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAG AGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0177 a0004c0004t0001g0177	1	190	0.0053	-145	c.719 others(19): Show c.719+13573_719+13717del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar

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