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
SGMS1_chr10_50300600_50628956	50458339	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19077.hp1 HG02922.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0092 a0001c0002t0010g0108 a0001c0002t0001g0092 a0001c0002t0010g0108	2	312	0.0064	-12	c.-31 others(31): Show c.-313+2322_-313+2333delAAAAAAAAAAAA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	5/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50476097	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG02717.hp1 others(1): Show HG01069.hp1 HG01243.hp1 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 others(1): Show a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0142	4	312	0.0128	-12	c.-49 others(31): Show c.-497-9177_-497-9166delTTTTTTTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	3/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50487985	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG03486.hp2 others(1): Show HG02258.hp2 HG02723.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0002t0007g0132 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0002t0007g0132 a0001c0002t0007g0141	4	312	0.0128	-12	c.-49 others(33): Show c.-497-21065_-497-21054delTAAATAAATAAA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	3/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50527063	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	312	0.0032	-12	c.-58 others(31): Show c.-588-7154_-588-7143delTTTTTTTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50532225	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(40): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01257.hp2 HG01361.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 NA18945.hp2 NA18948.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp2 NA18981.hp1 NA18992.hp1 NA18995.hp2 NA19004.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19089.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0040 a0001c0001t0001g0135 a0001c0001t0001g0158 others(40): Show a0001c0001t0001g0040 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0002g0129 a0001c0001t0002g0251 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0311 a0001c0001t0003g0015 a0001c0001t0003g0066 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0004g0134 a0001c0001t0005g0203 a0001c0001t0005g0207 a0001c0001t0005g0209 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0002t0001g0087 a0001c0002t0001g0131 a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0234	43	312	0.1378	-12	c.-58 others(33): Show c.-588-12316_-588-12305delCACACACACACA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50563742	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18959.hp2 NA18995.hp1 others(4): Show HG03834.hp2 NA18959.hp2 NA18995.hp1 NA19058.hp2 NA19065.hp1 NA19077.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0063 a0001c0001t0002g0075 a0001c0001t0012g0213 others(4): Show a0001c0001t0001g0063 a0001c0001t0002g0075 a0001c0001t0012g0213 a0001c0002t0001g0072 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0201	7	312	0.0224	-12	c.-58 others(33): Show c.-589+26399_-589+26410delTTTTTTTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS2_chr4_107819932_107920047	107892234	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	270	0.0037	-12	c.-24 others(31): Show c.-244-3064_-244-3053delAAAAAAAAAAAA	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SGO1_chr3_20164484_20191206	20189286	GTTATTTC others(5): Show GTTATTTCTACTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG03209.hp2 others(2): Show HG01891.hp1 HG02486.hp1 HG03209.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0055 a0001c0002t0001g0001 a0001c0002t0001g0055	5	430	0.0116	-12	c.-33 others(23): Show c.-3358_-3347delAAGTAGAAATAA	SGO1	ENSG00000129810.15	transcript	ENST00000412997.6	protein_coding		3081		chr3	TogoVar
SGO2_chr2_200521207_200589096	200522317	ATTCTTTC others(5): Show ATTCTTTCTTTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02559.hp2 others(8): Show HG01109.hp2 HG01243.hp2 HG02559.hp2 HG02615.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp1 NA19240.hp2	a0003 a0005 a0003 a0005	a0003c0006 a0005c0008 a0003c0006 a0005c0008	a0003c0006t0001 a0005c0008t0001 a0003c0006t0001 a0005c0008t0001	a0003c0006t0001g0166 a0003c0006t0001g0167 a0005c0008t0001g0017 others(7): Show a0003c0006t0001g0166 a0003c0006t0001g0167 a0005c0008t0001g0017 a0005c0008t0001g0082 a0005c0008t0001g0083 a0005c0008t0001g0084 a0005c0008t0001g0085 a0005c0008t0001g0086 a0005c0008t0001g0087 a0005c0008t0001g0088	11	384	0.0287	-12	c.-39 others(23): Show c.-3937_-3926delTTCTTTCTTTCT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		3889		chr2	TogoVar
SGO2_chr2_200521207_200589096	200524454	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	384	0.0026	-12	c.-18 others(23): Show c.-1800_-1789delTTTTTTTTTTTT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		1752		chr2	TogoVar
SGO2_chr2_200521207_200589096	200529510	GTTTTGTT others(5): Show GTTTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp1 others(14): Show HG00639.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01981.hp2 HG02055.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0001 a0003c0006t0003	a0003c0006t0001g0029 a0003c0006t0001g0030 a0003c0006t0001g0162 others(13): Show a0003c0006t0001g0029 a0003c0006t0001g0030 a0003c0006t0001g0162 a0003c0006t0001g0163 a0003c0006t0001g0164 a0003c0006t0001g0165 a0003c0006t0001g0166 a0003c0006t0001g0167 a0003c0006t0001g0168 a0003c0006t0001g0169 a0003c0006t0001g0170 a0003c0006t0001g0171 a0003c0006t0001g0172 a0003c0006t0001g0173 a0003c0006t0001g0174 a0003c0006t0003g0030	17	384	0.0443	-12	c.-3+ others(27): Show c.-3+3268_-3+3279delGTTTTTTGTTTT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGO2_chr2_200521207_200589096	200568909	TTATTTTT others(5): Show TTATTTTTGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00597.hp2 others(85): Show HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18978.hp1 NA18979.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19007.hp1 NA19011.hp2 NA19055.hp2 NA19064.hp1 NA19072.hp1 NA19084.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0019	a0001c0003 a0001c0022 a0002c0005 others(2): Show a0001c0003 a0001c0022 a0002c0005 a0006c0009 a0019c0023	a0001c0003t0002 a0001c0022t0002 a0002c0005t0003 others(3): Show a0001c0003t0002 a0001c0022t0002 a0002c0005t0003 a0002c0005t0007 a0006c0009t0002 a0019c0023t0002	a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0021 others(69): Show a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0146 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0022t0002g0026 a0002c0005t0003g0002 a0002c0005t0003g0019 a0002c0005t0003g0020 a0002c0005t0003g0096 a0002c0005t0003g0097 a0002c0005t0003g0098 a0002c0005t0003g0099 a0002c0005t0003g0100 a0002c0005t0003g0101 a0002c0005t0003g0102 a0002c0005t0003g0103 a0002c0005t0003g0104 a0002c0005t0003g0117 a0002c0005t0003g0120 a0002c0005t0003g0121 a0002c0005t0003g0122 a0002c0005t0003g0123 a0002c0005t0003g0124 a0002c0005t0003g0125 a0002c0005t0003g0145 a0002c0005t0003g0147 a0002c0005t0007g0119 a0006c0009t0002g0027 a0006c0009t0002g0028 a0006c0009t0002g0137 a0006c0009t0002g0138 a0019c0023t0002g0118	88	384	0.2292	-12	c.474 others(27): Show c.474-753_474-742delTATTTTTGTTAA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	5/8			chr2	TogoVar
SGPL1_chr10_70810948_70886184	70813914	TCACACAC others(5): Show TCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01433.hp1 NA20752.hp2 HG00323.hp2 HG01433.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0153 a0001c0001t0005g0155 a0001c0001t0013g0092 a0001c0001t0005g0153 a0001c0001t0005g0155 a0001c0001t0013g0092	3	402	0.0075	-12	c.-22 others(23): Show c.-2255_-2244delCACACACACACA	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding		2033		chr10	TogoVar
SGPL1_chr10_70810948_70886184	70843257	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19070.hp1 NA18961.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0303 a0001c0001t0002g0304	2	402	0.0050	-12	c.28- others(27): Show c.28-1207_28-1196delTGTGTGTGTGTG	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SGPL1_chr10_70810948_70886184	70848454	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(20): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG02015.hp2 HG02683.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp2 NA18747.hp1 NA18963.hp1 NA18967.hp1 NA19007.hp2 NA19062.hp1 NA19067.hp2 NA19076.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0004 a0004c0014 a0001c0003 a0002c0004 a0004c0014	a0001c0003t0004 a0001c0003t0033 a0001c0003t0057 others(4): Show a0001c0003t0004 a0001c0003t0033 a0001c0003t0057 a0001c0003t0058 a0002c0004t0004 a0002c0004t0033 a0004c0014t0004	a0001c0003t0004g0042 a0001c0003t0004g0068 a0001c0003t0004g0218 others(19): Show a0001c0003t0004g0042 a0001c0003t0004g0068 a0001c0003t0004g0218 a0001c0003t0004g0219 a0001c0003t0004g0221 a0001c0003t0004g0222 a0001c0003t0004g0223 a0001c0003t0004g0229 a0001c0003t0004g0234 a0001c0003t0004g0260 a0001c0003t0004g0261 a0001c0003t0033g0042 a0001c0003t0057g0262 a0001c0003t0058g0167 a0002c0004t0004g0017 a0002c0004t0004g0224 a0002c0004t0004g0226 a0002c0004t0004g0227 a0002c0004t0004g0228 a0002c0004t0004g0230 a0002c0004t0033g0017 a0004c0014t0004g0225	23	402	0.0572	-12	c.194 others(29): Show c.194-2672_194-2661delTTTTTTTTTTTT	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SGPP1_chr14_63679216_63733065	63679924	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02523.hp2 NA18980.hp2 others(1): Show HG00423.hp2 HG02523.hp2 NA18980.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0005g0001 a0001c0002t0005g0028 a0001c0002t0005g0029	4	288	0.0139	-12	c.61 others(23): Show c.6169_*6180delAAAAAAAAAAAA	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding		4291		chr14	TogoVar
SGPP1_chr14_63679216_63733065	63688714	CTTTTTTT others(5): Show CTTTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02818.hp1 others(1): Show HG02630.hp2 HG02809.hp1 HG02818.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0034 a0001c0002t0008g0035 a0001c0002t0008g0036 others(1): Show a0001c0002t0008g0034 a0001c0002t0008g0035 a0001c0002t0008g0036 a0001c0002t0008g0037	4	288	0.0139	-12	c.775 others(29): Show c.775-2070_775-2059delAGAAAAAAAAAA	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	2/2			chr14	TogoVar
SGPP1_chr14_63679216_63733065	63718977	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02145.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0068 a0001c0001t0003g0070	2	288	0.0069	-12	c.684 others(29): Show c.684+8272_684+8283delATATATATATAT	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SGPP1_chr14_63679216_63733065	63719006	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	288	0.0035	-12	c.684 others(29): Show c.684+8243_684+8254delAAAATATATATA	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SGPP2_chr2_222419543_222567621	222422285	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0257 a0001c0001t0002g0232 a0001c0001t0002g0257	2	272	0.0074	-12	c.-23 others(23): Show c.-2317_-2306delAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222438906	CTCACCCT others(5): Show CTCACCCTACCAG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0239 a0001c0001t0017g0239	1	272	0.0037	-12	c.219 others(31): Show c.219+14089_219+14100delCCCTACCAGTCA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222467950	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03130.hp2 HG03471.hp2 HG02015.hp1 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0018 a0001c0001t0001 a0001c0001t0020 a0001c0002t0018	a0001c0001t0001g0129 a0001c0001t0020g0110 a0001c0002t0018g0255 a0001c0001t0001g0129 a0001c0001t0020g0110 a0001c0002t0018g0255	3	272	0.0110	-12	c.220 others(29): Show c.220-6591_220-6580delAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222541594	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19030.hp2 HG03710.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0072 a0001c0001t0002 a0001c0005t0072	a0001c0001t0002g0240 a0001c0005t0072g0156 a0001c0001t0002g0240 a0001c0005t0072g0156	2	272	0.0074	-12	c.648 others(31): Show c.648+16585_648+16596delATTTATTTATTT	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM1_chr22_24801211_24932578	24845941	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00673.hp2 others(9): Show HG00408.hp1 HG00558.hp1 HG00673.hp2 HG02559.hp1 HG02630.hp1 HG02922.hp1 HG02970.hp2 HG03540.hp1 HG03710.hp2 HG04228.hp1 NA18990.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0002 a0002c0002t0023 a0003c0003t0009 a0003c0003t0017 a0003c0013t0003	a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0002g0083 others(9): Show a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0002g0083 a0001c0001t0003g0133 a0001c0001t0003g0327 a0001c0001t0005g0176 a0002c0002t0002g0249 a0002c0002t0023g0212 a0003c0003t0009g0043 a0003c0003t0009g0284 a0003c0003t0017g0320 a0003c0013t0003g0040	12	338	0.0355	-12	c.139 others(29): Show c.139+1028_139+1039delTCTTTCTTTCTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860897	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0221 a0002c0012t0003g0221	1	338	0.0030	-12	c.926 others(29): Show c.926+1072_926+1083delAAAAAAAAAAAA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860916	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp1 HG01943.hp2 HG01952.hp1	a0001 a0013 a0001 a0013	a0001c0004 a0013c0037 a0001c0004 a0013c0037	a0001c0004t0002 a0013c0037t0002 a0001c0004t0002 a0013c0037t0002	a0001c0004t0002g0111 a0013c0037t0002g0104 a0001c0004t0002g0111 a0013c0037t0002g0104	2	338	0.0059	-12	c.926 others(29): Show c.926+1078_926+1089delAAAAAATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860918	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	338	0.0030	-12	c.926 others(29): Show c.926+1080_926+1091delAAAATATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24900340	CTTCTTTC others(5): Show CTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00642.hp2 others(34): Show HG00423.hp1 HG00544.hp1 HG00642.hp2 HG00735.hp2 HG01123.hp1 HG01168.hp2 HG01256.hp2 HG01433.hp1 HG01928.hp2 HG01993.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp1 HG02273.hp1 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG03239.hp1 HG03453.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA19005.hp2 NA19009.hp1 NA19060.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0002c0009 others(4): Show a0001c0001 a0002c0002 a0002c0009 a0002c0015 a0003c0003 a0004c0042 a0008c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0009t0003 a0002c0015t0002 a0003c0003t0001 a0004c0042t0010 a0008c0028t0001	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0064 others(34): Show a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0003g0133 a0001c0001t0004g0170 a0001c0001t0010g0303 a0001c0001t0011g0224 a0001c0001t0011g0273 a0001c0001t0019g0317 a0002c0002t0001g0100 a0002c0002t0001g0210 a0002c0002t0002g0008 a0002c0002t0003g0052 a0002c0002t0003g0070 a0002c0002t0003g0101 a0002c0002t0004g0174 a0002c0002t0012g0321 a0002c0009t0003g0155 a0002c0015t0002g0202 a0002c0015t0002g0268 a0003c0003t0001g0301 a0004c0042t0010g0305 a0008c0028t0001g0093	37	338	0.1095	-12	c.261 others(31): Show c.2611-1436_2611-1425delTTCTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24907260	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01099.hp1 others(11): Show HG00323.hp1 HG00639.hp2 HG01099.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02293.hp2 HG03710.hp1 HG04115.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0025	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 others(11): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0255 a0001c0001t0002g0132 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0262 a0001c0001t0007g0038 a0001c0001t0008g0271 a0001c0001t0025g0035	14	338	0.0414	-12	c.281 others(31): Show c.2818+2109_2818+2120delTAAATAAATAAA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24928903	CAATAAAT others(5): Show CAATAAATAAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01071.hp1 others(17): Show HG00408.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01952.hp2 HG02015.hp2 HG02055.hp1 HG02083.hp2 HG02630.hp1 HG02895.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18953.hp1 NA18969.hp1 NA18993.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0027 a0002c0002 others(4): Show a0001c0001 a0001c0027 a0002c0002 a0002c0009 a0002c0012 a0003c0008 a0003c0013	a0001c0001t0001 a0001c0001t0003 a0001c0027t0003 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0027t0003 a0002c0002t0003 a0002c0002t0014 a0002c0002t0027 a0002c0009t0003 a0002c0012t0003 a0003c0008t0003 a0003c0013t0003	a0001c0001t0001g0254 a0001c0001t0003g0061 a0001c0001t0003g0063 others(17): Show a0001c0001t0001g0254 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0211 a0001c0001t0003g0246 a0001c0001t0003g0327 a0001c0027t0003g0095 a0002c0002t0003g0087 a0002c0002t0003g0096 a0002c0002t0003g0101 a0002c0002t0003g0193 a0002c0002t0003g0318 a0002c0002t0014g0183 a0002c0002t0014g0186 a0002c0002t0027g0313 a0002c0009t0003g0059 a0002c0009t0003g0155 a0002c0012t0003g0015 a0003c0008t0003g0325 a0003c0013t0003g0204	20	338	0.0592	-12	c.46 others(23): Show c.4630_*4641delAATAAATAAATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding		1326		chr22	TogoVar
SGSM2_chr17_2332501_2386054	2378921	CCAGCCTC others(5): Show CCAGCCTCAGCCT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0261 a0006c0008t0003g0261	1	422	0.0024	-12	c.290 others(28): Show c.2900-103_2900-92delTCAGCCTCAGCC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM3_chr22_40365594_40415289	40389600	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	292	0.0034	-12	c.-11 others(33): Show c.-111-11083_-111-11072delAAAAAAAAAAAA	SGSM3	ENSG00000100359.21	transcript	ENST00000248929.14	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGTB_chr5_65660928_65727109	65671644	CGGGGGTG others(5): Show CGGGGGTGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(175): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0003t0025 a0001c0004t0003	a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 others(151): Show a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0214 a0001c0001t0001g0249 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0302 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0260 a0001c0001t0002g0290 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0169 a0001c0001t0003g0194 a0001c0001t0003g0264 a0001c0001t0003g0268 a0001c0001t0003g0278 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0029 a0001c0001t0004g0032 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0091 a0001c0001t0004g0107 a0001c0001t0004g0134 a0001c0001t0004g0222 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0303 a0001c0001t0004g0311 a0001c0001t0005g0090 a0001c0001t0005g0151 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0005g0221 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0281 a0001c0001t0007g0010 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0008g0046 a0001c0001t0008g0052 a0001c0001t0008g0062 a0001c0001t0008g0082 a0001c0001t0008g0263 a0001c0001t0011g0019 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0012g0138 a0001c0001t0012g0164 a0001c0001t0012g0165 a0001c0001t0012g0178 a0001c0001t0013g0022 a0001c0001t0013g0287 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0015g0081 a0001c0001t0015g0193 a0001c0001t0016g0057 a0001c0001t0016g0296 a0001c0001t0017g0161 a0001c0001t0017g0168 a0001c0001t0018g0021 a0001c0001t0022g0034 a0001c0001t0023g0038 a0001c0001t0024g0265 a0001c0001t0029g0068 a0001c0001t0030g0153 a0001c0001t0031g0150 a0001c0001t0033g0294 a0001c0001t0034g0055 a0001c0001t0037g0160 a0001c0001t0039g0104 a0001c0001t0041g0092 a0001c0001t0043g0106 a0001c0003t0025g0152 a0001c0004t0003g0277	178	360	0.4944	-12	c.803 others(27): Show c.803+259_803+270delACCCCCACCCCC	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding	10/10			chr5	TogoVar
SGTB_chr5_65660928_65727109	65707395	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	360	0.0028	-12	c.274 others(29): Show c.274+1082_274+1093delGTGTGTGTGTGT	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding	4/10			chr5	TogoVar
SH2B1_chr16_28858843_28879205	28863893	AGCCGCCG others(5): Show AGCCGCCGCCGCC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0008 a0002c0002t0015g0008	1	380	0.0026	-12	c.-21 others(23): Show c.-2188_-2177delCCGCCGCCGCCG	SH2B1	ENSG00000178188.16	transcript	ENST00000684370.1	protein_coding	1/8	2177	INFO_REALIGN_3_PRIME	chr16	TogoVar
SH2B2_chr7_102281868_102326711	102301571	TGTGTGTG others(5): Show TGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	406	0.0025	-12	c.729 others(27): Show c.729+294_729+305delTGTGTGTGTGCG	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2B2_chr7_102281868_102326711	102322686	CCCTTCCT others(5): Show CCCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(93): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0014	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0008c0016 a0014c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0002c0002t0002 a0003c0003t0002 a0008c0016t0001 a0014c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(91): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0360 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0137 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0391 a0001c0001t0003g0044 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0006g0316 a0001c0001t0007g0347 a0002c0002t0002g0142 a0002c0002t0002g0150 a0003c0003t0002g0026 a0003c0003t0002g0392 a0008c0016t0001g0290 a0014c0010t0001g0328	96	406	0.2365	-12	c.10 others(23): Show c.1057_*1068delCCTTCCTTCCTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding		976		chr7	TogoVar
SH2B3_chr12_111400923_111456623	111417460	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	326	0.0031	-12	c.-27 others(27): Show c.-27-639_-27-628delATTTATTTATTT	SH2B3	ENSG00000111252.11	transcript	ENST00000341259.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SH2B3_chr12_111400923_111456623	111429015	CGAGGAGG others(5): Show CGAGGAGGAGGAG	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	326	0.0031	-12	c.732 others(31): Show c.732+10159_732+10170delGGAGGAGGAGGA	SH2B3	ENSG00000111252.11	transcript	ENST00000341259.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SH2D1A_chrX_124341563_124378160	124375169	CTCTCTCT others(5): Show CTCTCTCTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	318	0.0031	-12	c.37 others(23): Show c.3779_*3790delTCTCTCTCTATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2010		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375196	TATATATA others(5): Show TATATATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA19058.hp1 NA18978.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0265 a0001c0001t0001g0021 a0001c0001t0001g0265	2	318	0.0063	-12	c.38 others(23): Show c.3806_*3817delATATATACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2037		chrX	TogoVar
SH2D1B_chr1_162390268_162417136	162392171	AAAGGAAG others(5): Show AAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02723.hp1 HG02809.hp1 others(9): Show HG01243.hp1 HG02723.hp1 HG02809.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03654.hp2 NA18945.hp1 NA18947.hp2 NA18971.hp1 NA18983.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0253 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0253 a0001c0001t0002g0140 a0001c0001t0003g0050 a0001c0001t0003g0090 a0001c0001t0005g0007 a0001c0001t0005g0105 a0001c0001t0010g0067	12	424	0.0283	-12	c.50 others(23): Show c.5097_*5108delCCTTCCTTCCTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		3096		chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162403511	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03195.hp1 others(3): Show HG02723.hp1 HG02809.hp1 HG03195.hp1 HG03453.hp1 HG04228.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0001 a0001c0001t0005 a0002c0003t0001	a0001c0001t0005g0007 a0002c0003t0001g0159 a0002c0003t0001g0166 a0001c0001t0005g0007 a0002c0003t0001g0159 a0002c0003t0001g0166	6	424	0.0142	-12	c.135 others(27): Show c.135-721_135-710delATATATATATAT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3			chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162416268	AAAGGAAG others(5): Show AAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp2 others(52): Show HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01993.hp2 HG02071.hp1 HG02083.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18942.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19078.hp1 NA19082.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0002t0003 a0004c0005t0003	a0001c0001t0002g0142 a0001c0001t0003g0013 a0001c0001t0003g0014 others(44): Show a0001c0001t0002g0142 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0008g0095 a0001c0001t0010g0052 a0001c0001t0010g0067 a0001c0001t0012g0089 a0001c0002t0003g0094 a0004c0005t0003g0056	55	424	0.1297	-12	c.-42 others(23): Show c.-4264_-4253delCCTTCCTTCCTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4133		chr1	TogoVar
SH2D3C_chr9_127733317_127783666	127757602	AGATGATG others(5): Show AGATGATGATGAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02109.hp2 HG02922.hp1 others(3): Show HG01517.hp2 HG02109.hp2 HG02922.hp1 HG03139.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0126 others(3): Show a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0126 a0001c0005t0001g0132 a0001c0005t0001g0134 a0001c0005t0001g0135	6	332	0.0181	-12	c.555 others(29): Show c.555+3997_555+4008delATCATCATCATC	SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding	3/11			chr9	TogoVar
SH2D4A_chr8_19308693_19401218	19361549	AATAGCAT others(5): Show AATAGCATGATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02896.hp1 others(5): Show HG02258.hp1 HG02572.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0005t0002 a0002c0004t0002 a0002c0005t0002	a0002c0004t0002g0010 a0002c0004t0002g0086 a0002c0004t0002g0087 others(4): Show a0002c0004t0002g0010 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0089 a0002c0004t0002g0090 a0002c0005t0002g0005 a0002c0005t0002g0098	8	354	0.0226	-12	c.706 others(27): Show c.706+241_706+252delATGATATATAGC	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4A_chr8_19308693_19401218	19394217	AGCAGATG others(5): Show AGCAGATGTAAAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	354	0.0028	-12	c.127 others(29): Show c.1273-332_1273-321delGCAGATGTAAAT	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	9/9			chr8	TogoVar
SH2D4B_chr10_80532902_80651560	80572945	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02896.hp1 HG02970.hp1 HG00597.hp2 HG02896.hp1 HG02970.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0030 a0002c0002t0001 a0005c0005t0003 a0001c0001t0030 a0002c0002t0001 a0005c0005t0003	a0001c0001t0030g0212 a0002c0002t0001g0238 a0005c0005t0003g0228 a0001c0001t0030g0212 a0002c0002t0001g0238 a0005c0005t0003g0228	3	322	0.0093	-12	c.495 others(29): Show c.495+1398_495+1409delATATATATATAT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D5_chr1_20714731_20737703	20715686	GCAGGGCT others(5): Show GCAGGGCTCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA20300.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0038 a0001c0001t0013g0038	2	410	0.0049	-12	c.60 others(23): Show c.6094_*6105delTCCCGAGCCCTG	SH2D5	ENSG00000189410.12	transcript	ENST00000444387.7	protein_coding		4044		chr1	TogoVar
SH3BGRL2_chr6_79626329_79708655	79641150	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	348	0.0029	-12	c.45+ others(27): Show c.45+9679_45+9690delTGTGTGTGTGTG	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar

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