Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SPRY4_chr5_142305430_142330021	142311564	TTTGTTGT others(2): Show TTTGTTGTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(129): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18949.hp2 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp2 NA18993.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0005c0009 a0007c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(33): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0065 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0078 a0001c0001t0082 a0001c0001t0086 a0001c0001t0091 a0001c0001t0095 a0001c0001t0102 a0001c0003t0021 a0001c0004t0006 a0005c0009t0001 a0007c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0004g0005 a0001c0001t0004g0070 a0001c0001t0004g0086 a0001c0001t0004g0148 a0001c0001t0004g0155 a0001c0001t0004g0176 a0001c0001t0004g0180 a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0001t0006g0007 a0001c0001t0006g0024 a0001c0001t0006g0079 a0001c0001t0006g0153 a0001c0001t0006g0223 a0001c0001t0013g0020 a0001c0001t0013g0089 a0001c0001t0013g0094 a0001c0001t0013g0157 a0001c0001t0017g0010 a0001c0001t0021g0154 a0001c0001t0021g0203 a0001c0001t0021g0213 a0001c0001t0022g0013 a0001c0001t0024g0019 a0001c0001t0029g0043 a0001c0001t0030g0184 a0001c0001t0030g0197 a0001c0001t0031g0082 a0001c0001t0031g0201 a0001c0001t0033g0028 a0001c0001t0039g0047 a0001c0001t0040g0048 a0001c0001t0042g0053 a0001c0001t0051g0193 a0001c0001t0052g0194 a0001c0001t0057g0078 a0001c0001t0059g0200 a0001c0001t0062g0202 a0001c0001t0065g0160 a0001c0001t0069g0205 a0001c0001t0070g0206 a0001c0001t0072g0182 a0001c0001t0073g0156 a0001c0001t0074g0126 a0001c0001t0078g0091 a0001c0001t0082g0208 a0001c0001t0086g0163 a0001c0001t0091g0164 a0001c0001t0095g0146 a0001c0001t0102g0158 a0001c0003t0021g0196 a0001c0004t0006g0219 a0005c0009t0001g0195 a0007c0006t0001g0095	132	249	0.5301	-9	c.26 others(20): Show c.2636_*2644delCAACAACAA	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2636		chr5	TogoVar
SPRYD4_chr12_56463578_56484708	56476187	TTTGTCAC others(2): Show TTTGTCACCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0081 a0001c0001t0083 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0002t0077	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(62): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0012g0001 a0001c0001t0015g0001 a0001c0001t0016g0001 a0001c0001t0017g0001 a0001c0001t0018g0001 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0025g0001 a0001c0001t0027g0001 a0001c0001t0029g0001 a0001c0001t0030g0001 a0001c0001t0031g0001 a0001c0001t0032g0001 a0001c0001t0034g0001 a0001c0001t0039g0001 a0001c0001t0040g0001 a0001c0001t0042g0001 a0001c0001t0043g0001 a0001c0001t0044g0001 a0001c0001t0045g0001 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0001 a0001c0001t0049g0001 a0001c0001t0050g0001 a0001c0001t0051g0001 a0001c0001t0053g0001 a0001c0001t0054g0001 a0001c0001t0055g0001 a0001c0001t0056g0001 a0001c0001t0057g0001 a0001c0001t0058g0001 a0001c0001t0059g0001 a0001c0001t0060g0001 a0001c0001t0061g0001 a0001c0001t0064g0001 a0001c0001t0065g0001 a0001c0001t0066g0001 a0001c0001t0067g0001 a0001c0001t0068g0001 a0001c0001t0069g0001 a0001c0001t0070g0001 a0001c0001t0071g0001 a0001c0001t0072g0005 a0001c0001t0073g0001 a0001c0001t0081g0001 a0001c0001t0083g0001 a0001c0001t0087g0001 a0001c0001t0090g0001 a0001c0001t0091g0001 a0001c0001t0092g0001 a0001c0002t0077g0001	313	368	0.8505	-9	c.66 others(20): Show c.6620_*6628delTTGTCACCC	SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding	2/2	6620	INFO_REALIGN_3_PRIME	chr12	TogoVar
SPRYD7_chr13_49907702_49941340	49938052	ATTTTTTT others(2): Show ATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02630.hp1 others(3): Show HG02280.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0015 a0001c0001t0007g0070 a0001c0001t0007g0071	6	169	0.0355	-9	c.-18 others(20): Show c.-1826_-1818delAAAAAAAAA	SPRYD7	ENSG00000123178.16	transcript	ENST00000361840.8	protein_coding		1713		chr13	TogoVar
SPTAN1_chr9_128547587_128638662	128570326	ATATATTT others(2): Show ATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01934.hp1 HG01981.hp1 others(16): Show HG01123.hp1 HG01934.hp1 HG01981.hp1 HG02080.hp1 HG02080.hp2 HG02300.hp1 HG02683.hp1 HG02698.hp1 HG03195.hp2 HG03209.hp2 HG03654.hp1 HG03704.hp1 NA18944.hp2 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA19043.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0025 a0001c0002 a0001c0007 a0001c0025	a0001c0002t0001 a0001c0007t0001 a0001c0025t0001 a0001c0002t0001 a0001c0007t0001 a0001c0025t0001	a0001c0002t0001g0184 a0001c0002t0001g0204 a0001c0002t0001g0206 others(16): Show a0001c0002t0001g0184 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0228 a0001c0002t0001g0236 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0261 a0001c0002t0001g0264 a0001c0007t0001g0272 a0001c0025t0001g0182	19	293	0.0648	-9	c.363 others(26): Show c.363+1431_363+1439delATATTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570328	ATATTTTT others(2): Show ATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(48): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00735.hp1 HG01192.hp1 HG01433.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02572.hp1 HG02818.hp2 HG03041.hp1 HG03490.hp2 HG03579.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp2 NA18999.hp2 NA19001.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0023 a0001c0026 others(1): Show a0001c0002 a0001c0023 a0001c0026 a0006c0031	a0001c0002t0001 a0001c0002t0005 a0001c0023t0001 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0023t0001 a0001c0026t0001 a0006c0031t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0032 others(48): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0032 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0289 a0001c0002t0001g0307 a0001c0002t0001g0310 a0001c0002t0005g0181 a0001c0023t0001g0303 a0001c0026t0001g0209 a0006c0031t0001g0225	51	215	0.2372	-9	c.363 others(26): Show c.363+1433_363+1441delATTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01099.hp1 others(23): Show HG00558.hp2 HG00735.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp2 HG01978.hp1 HG02683.hp2 HG02895.hp1 HG03704.hp2 HG03834.hp2 HG06807.hp2 NA18974.hp1 NA18980.hp1 NA18985.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19070.hp2 NA19081.hp2 NA19091.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0001c0019 a0003c0011	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0019t0001 a0003c0011t0001	a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0001g0076 others(22): Show a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0002t0001g0188 a0001c0002t0001g0211 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0012t0001g0001 a0001c0012t0001g0124 a0001c0019t0001g0218 a0003c0011t0001g0063 a0003c0011t0001g0066 a0003c0011t0001g0067	26	227	0.1145	-9	c.363 others(26): Show c.363+1449_363+1457delTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54468326	AATAAAAA others(2): Show AATAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp1 HG03098.hp2 others(3): Show HG01346.hp2 HG02109.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0003 a0001c0013t0015 a0001c0003t0003 a0001c0013t0015	a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0013t0015g0255 others(3): Show a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263	6	368	0.0163	-9	c.-48 others(28): Show c.-48+11810_-48+11818delTAAAAAATA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(32): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG02015.hp2 HG02135.hp2 HG02258.hp2 HG02698.hp2 HG02738.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp2 NA18940.hp1 NA18941.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18982.hp1 NA18986.hp1 NA18992.hp1 NA19012.hp2 NA19056.hp2 NA19062.hp2 NA19067.hp1 NA19084.hp2 NA19086.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0001c0025 a0001c0026 a0003c0027 a0009c0024	a0001c0001t0007 a0001c0001t0044 a0001c0003t0003 others(12): Show a0001c0001t0007 a0001c0001t0044 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0032 a0001c0003t0033 a0001c0003t0036 a0001c0011t0003 a0001c0011t0023 a0001c0025t0003 a0001c0026t0006 a0003c0027t0003 a0009c0024t0009	a0001c0001t0007g0197 a0001c0001t0007g0292 a0001c0001t0007g0294 others(32): Show a0001c0001t0007g0197 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0044g0297 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0177 a0001c0003t0003g0284 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0025t0003g0352 a0001c0026t0006g0102 a0003c0027t0003g0075 a0009c0024t0009g0232	35	97	0.3608	-9	c.149 others(28): Show c.149-17500_149-17492delTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40538191	CCAACCTG others(2): Show CCAACCTGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00741.hp2 others(81): Show HG00099.hp1 HG00140.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18946.hp1 NA18970.hp2 NA18983.hp1 NA18984.hp1 NA19043.hp1 NA19054.hp2 NA19085.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0012 a0013 a0014 a0018 a0021	a0001c0001 a0001c0010 a0002c0003 others(26): Show a0001c0001 a0001c0010 a0002c0003 a0002c0004 a0002c0015 a0002c0019 a0002c0020 a0002c0021 a0002c0034 a0002c0045 a0003c0005 a0003c0006 a0003c0018 a0004c0011 a0004c0014 a0004c0025 a0005c0009 a0005c0023 a0005c0026 a0005c0029 a0009c0024 a0009c0030 a0010c0032 a0011c0055 a0012c0035 a0013c0046 a0014c0031 a0018c0051 a0021c0042	a0001c0001t0001 a0001c0010t0001 a0002c0003t0001 others(30): Show a0001c0001t0001 a0001c0010t0001 a0002c0003t0001 a0002c0004t0001 a0002c0015t0001 a0002c0019t0001 a0002c0020t0001 a0002c0021t0001 a0002c0034t0001 a0002c0045t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0011 a0003c0006t0001 a0003c0006t0004 a0003c0018t0001 a0004c0011t0001 a0004c0014t0001 a0004c0025t0001 a0005c0009t0001 a0005c0009t0009 a0005c0023t0001 a0005c0026t0001 a0005c0029t0001 a0009c0024t0001 a0009c0030t0007 a0010c0032t0001 a0011c0055t0001 a0012c0035t0001 a0013c0046t0001 a0014c0031t0001 a0018c0051t0001 a0021c0042t0001	a0001c0001t0001g0093 a0001c0010t0001g0070 a0001c0010t0001g0091 others(81): Show a0001c0001t0001g0093 a0001c0010t0001g0070 a0001c0010t0001g0091 a0002c0003t0001g0016 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0064 a0002c0003t0001g0099 a0002c0003t0001g0124 a0002c0003t0001g0163 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0222 a0002c0003t0001g0232 a0002c0004t0001g0025 a0002c0004t0001g0050 a0002c0004t0001g0069 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0104 a0002c0004t0001g0169 a0002c0004t0001g0224 a0002c0004t0001g0226 a0002c0015t0001g0086 a0002c0015t0001g0135 a0002c0015t0001g0179 a0002c0019t0001g0041 a0002c0019t0001g0162 a0002c0020t0001g0161 a0002c0020t0001g0231 a0002c0021t0001g0010 a0002c0021t0001g0220 a0002c0034t0001g0157 a0002c0045t0001g0085 a0003c0005t0001g0011 a0003c0005t0001g0015 a0003c0005t0001g0034 a0003c0005t0001g0037 a0003c0005t0001g0059 a0003c0005t0001g0115 a0003c0005t0001g0210 a0003c0005t0001g0211 a0003c0005t0002g0207 a0003c0005t0002g0208 a0003c0005t0011g0052 a0003c0006t0001g0031 a0003c0006t0001g0081 a0003c0006t0001g0123 a0003c0006t0001g0151 a0003c0006t0001g0212 a0003c0006t0001g0213 a0003c0006t0001g0215 a0003c0006t0001g0216 a0003c0006t0001g0217 a0003c0006t0001g0229 a0003c0006t0004g0076 a0003c0018t0001g0051 a0003c0018t0001g0234 a0004c0011t0001g0136 a0004c0011t0001g0137 a0004c0011t0001g0141 a0004c0014t0001g0058 a0004c0014t0001g0146 a0004c0025t0001g0056 a0005c0009t0001g0007 a0005c0009t0001g0144 a0005c0009t0001g0148 a0005c0009t0001g0175 a0005c0009t0001g0189 a0005c0009t0009g0190 a0005c0023t0001g0192 a0005c0026t0001g0005 a0005c0029t0001g0140 a0009c0024t0001g0176 a0009c0030t0007g0172 a0010c0032t0001g0006 a0011c0055t0001g0020 a0012c0035t0001g0107 a0013c0046t0001g0153 a0014c0031t0001g0057 a0018c0051t0001g0221 a0021c0042t0001g0225	84	232	0.3621	-9	c.435 others(28): Show c.4359+3853_4359+3861delCTGGGCAAC	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	20/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64801552	GTGTGAGC others(2): Show GTGTGAGCCT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02109.hp2 HG01081.hp1 HG01891.hp1 HG02109.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0010 a0002c0012t0010	a0002c0012t0010g0001 a0002c0012t0010g0257 a0002c0012t0010g0001 a0002c0012t0010g0257	3	266	0.0113	-9	c.648 others(24): Show c.648-161_648-153delAGGCTCACA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	6/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64830334	CTTATTAT others(2): Show CTTATTATTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp2 others(81): Show HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01981.hp2 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18956.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA19007.hp1 NA19030.hp2 NA19070.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0013 a0021 a0023 a0028 a0029 a0030	a0001c0001 a0001c0002 a0001c0009 others(28): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0021 a0001c0022 a0001c0059 a0001c0063 a0001c0068 a0002c0003 a0002c0006 a0002c0007 a0002c0078 a0002c0080 a0003c0004 a0003c0030 a0003c0039 a0003c0079 a0004c0077 a0005c0010 a0005c0015 a0006c0016 a0007c0017 a0007c0035 a0009c0020 a0013c0075 a0021c0045 a0023c0072 a0028c0065 a0029c0034 a0030c0044	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(43): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0019 a0001c0009t0001 a0001c0009t0002 a0001c0009t0006 a0001c0014t0004 a0001c0021t0004 a0001c0022t0004 a0001c0059t0001 a0001c0063t0004 a0001c0068t0003 a0002c0003t0013 a0002c0003t0020 a0002c0006t0001 a0002c0006t0003 a0002c0006t0005 a0002c0007t0001 a0002c0007t0003 a0002c0007t0019 a0002c0078t0014 a0002c0080t0002 a0003c0004t0002 a0003c0004t0015 a0003c0004t0038 a0003c0030t0012 a0003c0039t0008 a0003c0079t0006 a0004c0077t0004 a0005c0010t0004 a0005c0015t0001 a0006c0016t0005 a0006c0016t0011 a0006c0016t0021 a0007c0017t0001 a0007c0035t0003 a0009c0020t0001 a0013c0075t0003 a0021c0045t0005 a0023c0072t0001 a0028c0065t0014 a0029c0034t0002 a0030c0044t0001	a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0225 others(81): Show a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0002t0001g0018 a0001c0002t0001g0041 a0001c0002t0001g0068 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0114 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0002g0081 a0001c0002t0002g0084 a0001c0002t0002g0090 a0001c0002t0002g0192 a0001c0002t0003g0007 a0001c0002t0003g0033 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0080 a0001c0002t0003g0092 a0001c0002t0003g0099 a0001c0002t0003g0243 a0001c0002t0006g0093 a0001c0002t0019g0143 a0001c0009t0001g0014 a0001c0009t0002g0010 a0001c0009t0002g0011 a0001c0009t0006g0012 a0001c0014t0004g0075 a0001c0021t0004g0039 a0001c0022t0004g0096 a0001c0059t0001g0247 a0001c0063t0004g0199 a0001c0068t0003g0218 a0002c0003t0013g0159 a0002c0003t0013g0160 a0002c0003t0020g0193 a0002c0006t0001g0149 a0002c0006t0003g0152 a0002c0006t0005g0150 a0002c0007t0001g0237 a0002c0007t0003g0221 a0002c0007t0003g0231 a0002c0007t0019g0258 a0002c0078t0014g0200 a0002c0080t0002g0169 a0003c0004t0002g0035 a0003c0004t0002g0214 a0003c0004t0002g0222 a0003c0004t0002g0228 a0003c0004t0002g0229 a0003c0004t0002g0244 a0003c0004t0015g0265 a0003c0004t0015g0266 a0003c0004t0015g0267 a0003c0004t0038g0264 a0003c0030t0012g0164 a0003c0030t0012g0168 a0003c0039t0008g0070 a0003c0079t0006g0016 a0004c0077t0004g0087 a0005c0010t0004g0046 a0005c0010t0004g0239 a0005c0015t0001g0191 a0005c0015t0001g0217 a0006c0016t0005g0202 a0006c0016t0011g0056 a0006c0016t0011g0073 a0006c0016t0021g0049 a0007c0017t0001g0161 a0007c0017t0001g0171 a0007c0035t0003g0162 a0009c0020t0001g0195 a0009c0020t0001g0196 a0009c0020t0001g0197 a0013c0075t0003g0176 a0021c0045t0005g0187 a0023c0072t0001g0074 a0028c0065t0014g0180 a0029c0034t0002g0240 a0030c0044t0001g0256	84	165	0.5091	-9	c.-51 others(26): Show c.-51-7198_-51-7190delTAATAATAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77505347	ACCCCCAC others(2): Show ACCCCCACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01123.hp2 HG01255.hp2 HG01257.hp1 HG01981.hp2 HG01993.hp1 HG02148.hp1 HG02698.hp1 HG02735.hp2 HG04204.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA19081.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0002t0006	a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 others(15): Show a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0008g0172 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0002t0006g0104 a0001c0002t0006g0108 a0001c0002t0006g0109 a0001c0002t0006g0111 a0001c0002t0006g0112 a0001c0002t0006g0113 a0001c0002t0006g0114 a0001c0002t0006g0123 a0001c0002t0006g0153	18	244	0.0738	-9	c.69 others(20): Show c.6928_*6936delGGGTGGGGG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding		649		chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531420	TTTCTTCT others(2): Show TTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG03098.hp1 others(1): Show HG02451.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0028 a0001c0003t0001 a0001c0002t0028 a0001c0003t0001	a0001c0002t0028g0173 a0001c0003t0001g0011 a0001c0003t0001g0013 others(1): Show a0001c0002t0028g0173 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0021	4	216	0.0185	-9	c.130 others(28): Show c.1304-9848_1304-9840delGAAGAAGAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77608919	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02976.hp2 others(5): Show HG02572.hp1 HG02615.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0024 a0001c0001t0025 others(3): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0025 a0001c0002t0005 a0001c0002t0020 a0001c0002t0029	a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0024g0220 others(5): Show a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0024g0220 a0001c0001t0025g0019 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0020g0002 a0001c0002t0029g0186	8	60	0.1333	-9	c.132 others(26): Show c.132+7520_132+7528delATTATTATT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443197	GGGTGTGT others(2): Show GGGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG00733.hp2 others(10): Show HG00621.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01167.hp2 HG01884.hp2 HG02055.hp2 HG02486.hp1 HG02486.hp2 HG02717.hp1 HG04184.hp2 NA18997.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0103 a0001c0001t0001g0152 a0001c0001t0001g0155 others(10): Show a0001c0001t0001g0103 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0002g0048 a0001c0001t0002g0064 a0001c0001t0004g0041 a0001c0001t0011g0028 a0001c0001t0011g0274 a0001c0001t0011g0275	13	186	0.0699	-9	c.113 others(26): Show c.113-7902_113-7894delACACACACC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443353	TGAGTGTG others(2): Show TGAGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG01243.hp2 others(3): Show HG01168.hp1 HG01175.hp2 HG01243.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0118 a0001c0001t0005g0107 a0001c0001t0005g0108 others(3): Show a0001c0001t0003g0118 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0270	6	334	0.0180	-9	c.113 others(26): Show c.113-8058_113-8050delCACACACTC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369277	CTTTCTTT others(2): Show CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02818.hp1 HG03098.hp1 others(8): Show HG01169.hp1 HG02818.hp1 HG03098.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 NA18906.hp2 NA19079.hp1 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0203 a0001c0001t0004g0129	11	410	0.0268	-9	c.-12 others(28): Show c.-126+2149_-126+2157delAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18622954	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01123.hp2 others(13): Show HG00738.hp2 HG01109.hp1 HG01123.hp2 HG01884.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG06807.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0011 a0001c0001 a0003c0004 a0003c0011	a0001c0001t0003 a0001c0001t0025 a0003c0004t0005 others(1): Show a0001c0001t0003 a0001c0001t0025 a0003c0004t0005 a0003c0011t0005	a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 others(12): Show a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0025g0260 a0003c0004t0005g0022 a0003c0004t0005g0143 a0003c0004t0005g0146 a0003c0004t0005g0147 a0003c0004t0005g0148 a0003c0004t0005g0149 a0003c0004t0005g0150 a0003c0004t0005g0152 a0003c0011t0005g0151	16	230	0.0696	-9	c.61- others(24): Show c.61-5974_61-5966delGTTGTTGTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45661289	TTAAAAAA others(2): Show TTAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02257.hp1 HG02896.hp2 others(4): Show HG01169.hp2 HG02257.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0043 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0001g0149 a0001c0001t0001g0152	7	127	0.0551	-9	c.235 others(24): Show c.235-665_235-657delTAAAAAAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179830630	CTCACTGC others(2): Show CTCACTGCAG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18969.hp2 NA18977.hp2 others(2): Show NA18952.hp1 NA18969.hp2 NA18977.hp2 NA18982.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0028 a0001c0001t0001g0264 a0001c0001t0001g0265	5	460	0.0109	-9	c.755 others(26): Show c.755-2400_755-2392delCACTGCAGT	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRA1_chr5_140545068_140562473	140557513	CCAGTTGA others(2): Show CCAGTTGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03490.hp1 HG03492.hp1 others(1): Show HG02738.hp2 HG03490.hp1 HG03492.hp1 HG03834.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0007 a0002c0001t0001g0023 a0002c0001t0001g0007 a0002c0001t0001g0023	4	400	0.0100	-9	c.-70 others(16): Show c.-70_-62delTCTCAACTG	SRA1	ENSG00000213523.12	transcript	ENST00000336283.9	protein_coding		41		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(2): Show CAAACAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 HG02004.hp2 others(25): Show HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02280.hp2 HG02451.hp2 HG03041.hp2 HG03942.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp2 NA18994.hp2 NA19007.hp2 NA19068.hp1 NA19086.hp2 NA19088.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0002c0004 a0003c0003 others(3): Show a0001c0001 a0002c0004 a0003c0003 a0004c0019 a0004c0020 a0013c0017	a0001c0001t0001 a0002c0004t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0004t0001 a0003c0003t0001 a0004c0019t0001 a0004c0020t0001 a0013c0017t0001	a0001c0001t0001g0086 a0002c0004t0001g0076 a0002c0004t0001g0079 others(25): Show a0001c0001t0001g0086 a0002c0004t0001g0076 a0002c0004t0001g0079 a0003c0003t0001g0004 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0114 a0003c0003t0001g0281 a0003c0003t0001g0283 a0003c0003t0001g0297 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0303 a0004c0019t0001g0077 a0004c0020t0001g0082 a0013c0017t0001g0305	28	190	0.1474	-9	c.205 others(28): Show c.2050-1621_2050-1613delTTTTTGTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45532162	CCACCATC others(2): Show CCACCATCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(58): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00733.hp1 HG01167.hp2 HG01433.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19068.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0013c0017 a0001c0001 a0003c0003 a0013c0017	a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 a0013c0017t0001	a0001c0001t0001g0064 a0003c0003t0001g0004 a0003c0003t0001g0055 others(58): Show a0001c0001t0001g0064 a0003c0003t0001g0004 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0311 a0003c0003t0004g0298 a0013c0017t0001g0305	61	356	0.1713	-9	c.187 others(30): Show c.1874+14561_1874+14569delCTGATGGTG	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38533968	TCCACCAC others(2): Show TCCACCACCA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01243.hp1 others(16): Show HG00733.hp1 HG01109.hp1 HG01243.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 HG04115.hp2 HG06807.hp1 NA18942.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0002c0004 a0006c0024	a0001c0001t0001 a0001c0003t0001 a0001c0003t0008 others(10): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0008 a0001c0003t0012 a0001c0003t0038 a0001c0003t0040 a0001c0008t0020 a0001c0008t0043 a0001c0012t0049 a0001c0012t0050 a0002c0004t0005 a0002c0004t0022 a0006c0024t0021	a0001c0001t0001g0040 a0001c0003t0001g0127 a0001c0003t0008g0001 others(12): Show a0001c0001t0001g0040 a0001c0003t0001g0127 a0001c0003t0008g0001 a0001c0003t0008g0164 a0001c0003t0008g0180 a0001c0003t0012g0165 a0001c0003t0038g0095 a0001c0003t0040g0132 a0001c0008t0020g0009 a0001c0008t0043g0155 a0001c0012t0049g0088 a0001c0012t0050g0213 a0002c0004t0005g0153 a0002c0004t0022g0152 a0006c0024t0021g0008	19	260	0.0731	-9	c.341 others(26): Show c.3418-546_3418-538delTGGTGGTGG	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	18/18			chr17	TogoVar
SRCIN1_chr17_38525031_38610952	38581410	AAAAAAAA others(2): Show AAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02258.hp2 others(6): Show HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp1 HG02723.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0045 a0001c0005t0046 a0001c0005t0007 a0001c0005t0045 a0001c0005t0046	a0001c0005t0007g0006 a0001c0005t0007g0178 a0001c0005t0007g0225 others(5): Show a0001c0005t0007g0006 a0001c0005t0007g0178 a0001c0005t0007g0225 a0001c0005t0007g0227 a0001c0005t0007g0228 a0001c0005t0007g0229 a0001c0005t0045g0226 a0001c0005t0046g0224	9	260	0.0346	-9	c.23- others(24): Show c.23-2628_23-2620delCTTTTTTTT	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	1/18			chr17	TogoVar
SRD5A2_chr2_31517480_31585938	31549081	AATTATTA others(2): Show AATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG06807.hp1 HG06807.hp2 others(2): Show HG02622.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 a0002c0002t0001	a0001c0001t0001g0343 a0001c0001t0001g0356 a0001c0001t0007g0358 others(2): Show a0001c0001t0001g0343 a0001c0001t0001g0356 a0001c0001t0007g0358 a0001c0001t0023g0282 a0002c0002t0001g0106	5	87	0.0575	-9	c.282 others(28): Show c.282-15324_282-15316delAATAATAAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55343115	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(161): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18955.hp2 NA18956.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19078.hp1 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0043 a0001c0001t0049 a0001c0001t0055 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0068 a0002c0002t0019 a0003c0003t0025 a0003c0003t0065 a0005c0005t0040	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(131): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0201 a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0142 a0001c0001t0002g0156 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0003g0058 a0001c0001t0004g0008 a0001c0001t0004g0019 a0001c0001t0004g0055 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0005g0013 a0001c0001t0005g0051 a0001c0001t0005g0076 a0001c0001t0006g0012 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0099 a0001c0001t0006g0145 a0001c0001t0006g0162 a0001c0001t0007g0005 a0001c0001t0007g0018 a0001c0001t0007g0048 a0001c0001t0007g0241 a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0008g0012 a0001c0001t0008g0146 a0001c0001t0009g0004 a0001c0001t0009g0047 a0001c0001t0009g0049 a0001c0001t0009g0155 a0001c0001t0009g0163 a0001c0001t0011g0035 a0001c0001t0011g0137 a0001c0001t0013g0056 a0001c0001t0013g0065 a0001c0001t0014g0233 a0001c0001t0015g0010 a0001c0001t0015g0210 a0001c0001t0015g0213 a0001c0001t0016g0205 a0001c0001t0016g0206 a0001c0001t0016g0207 a0001c0001t0016g0214 a0001c0001t0016g0215 a0001c0001t0017g0016 a0001c0001t0017g0017 a0001c0001t0018g0226 a0001c0001t0021g0150 a0001c0001t0021g0151 a0001c0001t0022g0103 a0001c0001t0022g0105 a0001c0001t0022g0122 a0001c0001t0024g0002 a0001c0001t0024g0011 a0001c0001t0024g0140 a0001c0001t0025g0102 a0001c0001t0025g0104 a0001c0001t0027g0010 a0001c0001t0027g0073 a0001c0001t0028g0025 a0001c0001t0029g0003 a0001c0001t0030g0096 a0001c0001t0032g0009 a0001c0001t0033g0225 a0001c0001t0034g0005 a0001c0001t0036g0138 a0001c0001t0037g0100 a0001c0001t0039g0074 a0001c0001t0043g0209 a0001c0001t0049g0010 a0001c0001t0055g0039 a0001c0001t0058g0039 a0001c0001t0060g0212 a0001c0001t0062g0002 a0001c0001t0063g0129 a0001c0001t0064g0002 a0001c0001t0066g0154 a0001c0001t0068g0157 a0002c0002t0019g0204 a0003c0003t0025g0091 a0003c0003t0065g0090 a0005c0005t0040g0075	164	169	0.9704	-9	c.-32 others(20): Show c.-3221_-3213delAAAAAAAAA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding		3126		chr4	TogoVar
SREBF1_chr17_17806334_17841986	17829206	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01169.hp2 others(14): Show HG00140.hp2 HG00280.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02965.hp1 HG03041.hp2 HG06807.hp2 NA18942.hp2 NA19074.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0020	a0001c0001 a0001c0022 a0002c0003 others(3): Show a0001c0001 a0001c0022 a0002c0003 a0006c0011 a0009c0020 a0020c0024	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0022t0002 a0002c0003t0019 a0002c0003t0029 a0006c0011t0026 a0009c0020t0002 a0020c0024t0002	a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0046 others(13): Show a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0070 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0008g0098 a0001c0001t0021g0075 a0001c0022t0002g0059 a0002c0003t0019g0097 a0002c0003t0029g0232 a0006c0011t0026g0094 a0009c0020t0002g0058 a0020c0024t0002g0077	17	227	0.0749	-9	c.91+ others(24): Show c.91+7512_91+7520delATATATATA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17833420	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp1 others(50): Show HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02886.hp1 HG03516.hp1 HG03704.hp1 NA18942.hp2 NA18956.hp2 NA18964.hp1 NA18979.hp2 NA18998.hp1 NA19004.hp2 NA19009.hp2 NA19060.hp1 NA19074.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0009 a0010 others(1): Show a0001 a0009 a0010 a0020	a0001c0001 a0001c0010 a0001c0022 others(3): Show a0001c0001 a0001c0010 a0001c0022 a0009c0020 a0010c0018 a0020c0024	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0021 a0001c0010t0002 a0001c0022t0002 a0009c0020t0002 a0010c0018t0002 a0020c0024t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0018 others(37): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0056 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0014g0084 a0001c0001t0014g0085 a0001c0001t0021g0075 a0001c0010t0002g0080 a0001c0022t0002g0059 a0009c0020t0002g0058 a0010c0018t0002g0087 a0020c0024t0002g0077	53	290	0.1828	-9	c.91+ others(24): Show c.91+3298_91+3306delTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17833447	AAAAATAT others(2): Show AAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG03098.hp1 others(3): Show HG02647.hp1 HG02818.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0015 a0007c0009t0009 a0001c0001t0001 a0001c0001t0015 a0007c0009t0009	a0001c0001t0001g0134 a0001c0001t0015g0136 a0001c0001t0015g0138 others(3): Show a0001c0001t0001g0134 a0001c0001t0015g0136 a0001c0001t0015g0138 a0001c0001t0015g0141 a0007c0009t0009g0135 a0007c0009t0009g0137	6	335	0.0179	-9	c.91+ others(24): Show c.91+3271_91+3279delATATATTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF2_chr22_41828105_41912305	41852728	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00673.hp1 others(29): Show HG00408.hp2 HG00423.hp2 HG00673.hp1 HG01109.hp1 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18975.hp1 NA19030.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0012 a0004c0004t0001 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010	a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 others(28): Show a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0002g0039 a0002c0002t0003g0001 a0002c0002t0003g0011 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0003g0328 a0002c0002t0003g0330 a0002c0002t0005g0051 a0002c0002t0007g0329 a0002c0002t0012g0057 a0004c0004t0001g0045 a0004c0004t0001g0053 a0004c0004t0001g0224 a0004c0004t0003g0007 a0004c0004t0005g0052 a0004c0004t0009g0047 a0004c0004t0009g0048 a0004c0004t0009g0049 a0004c0004t0010g0054	32	60	0.5333	-9	c.89- others(26): Show c.89-14080_89-14072delTTTTTTTTT	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1IP1_chr5_64713148_64773691	64749059	CATAATAA others(2): Show CATAATAATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02280.hp2 HG02451.hp1 others(21): Show HG00544.hp1 HG02280.hp2 HG02451.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA18947.hp2 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA19001.hp2 NA19005.hp1 NA19059.hp2 NA19068.hp1 NA19086.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 a0001c0001t0032 a0001c0001t0049 a0001c0001t0050 a0001c0002t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0012 a0001c0003t0039	a0001c0001t0001g0162 a0001c0001t0003g0028 a0001c0001t0003g0234 others(20): Show a0001c0001t0001g0162 a0001c0001t0003g0028 a0001c0001t0003g0234 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0029g0190 a0001c0001t0032g0085 a0001c0001t0049g0241 a0001c0001t0050g0264 a0001c0002t0004g0193 a0001c0002t0004g0209 a0001c0002t0004g0210 a0001c0002t0004g0211 a0001c0003t0005g0051 a0001c0003t0010g0060 a0001c0003t0012g0033 a0001c0003t0012g0034 a0001c0003t0039g0061	24	181	0.1326	-9	c.61+ others(24): Show c.61+5247_61+5255delTATTATTAT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	2/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64749100	TAATAATA others(2): Show TAATAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18949.hp1 NA18972.hp1 HG02523.hp1 NA18949.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0245	3	340	0.0088	-9	c.61+ others(24): Show c.61+5206_61+5214delTTTATTATT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	2/4			chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63868070	TTTTTTTT others(2): Show TTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp2 HG03098.hp2 others(3): Show HG00408.hp1 HG02056.hp2 HG03098.hp2 HG03927.hp1 NA18946.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0118 a0001c0001t0126 a0001c0002t0024 others(3): Show a0001c0001t0118 a0001c0001t0126 a0001c0002t0024 a0001c0002t0045 a0001c0002t0061 a0001c0006t0084	a0001c0001t0118g0106 a0001c0001t0126g0043 a0001c0002t0024g0044 others(3): Show a0001c0001t0118g0106 a0001c0001t0126g0043 a0001c0002t0024g0044 a0001c0002t0045g0048 a0001c0002t0061g0042 a0001c0006t0084g0014	6	166	0.0361	-9	c.67+ others(26): Show c.67+23196_67+23204delGTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63949396	TTTATTAT others(2): Show TTTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01069.hp2 others(38): Show HG00408.hp1 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG02055.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03516.hp1 HG03579.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18946.hp1 NA18951.hp1 NA18967.hp2 NA18971.hp2 NA18988.hp1 NA19079.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0003c0005 a0004c0012	a0001c0001t0007 a0001c0001t0021 a0001c0001t0067 others(37): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0067 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0085 a0001c0001t0096 a0001c0001t0101 a0001c0001t0106 a0001c0001t0111 a0001c0001t0115 a0001c0001t0116 a0001c0001t0119 a0001c0001t0120 a0001c0001t0126 a0001c0001t0127 a0001c0001t0139 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0002t0035 a0001c0002t0037 a0001c0002t0044 a0001c0002t0052 a0001c0002t0053 a0001c0002t0055 a0001c0002t0061 a0001c0002t0131 a0001c0003t0002 a0001c0003t0099 a0001c0006t0084 a0001c0006t0104 a0002c0004t0152 a0003c0005t0138 a0004c0012t0017	a0001c0001t0007g0039 a0001c0001t0021g0151 a0001c0001t0067g0075 others(38): Show a0001c0001t0007g0039 a0001c0001t0021g0151 a0001c0001t0067g0075 a0001c0001t0073g0134 a0001c0001t0076g0080 a0001c0001t0077g0128 a0001c0001t0078g0057 a0001c0001t0080g0164 a0001c0001t0085g0102 a0001c0001t0096g0022 a0001c0001t0101g0166 a0001c0001t0106g0055 a0001c0001t0111g0138 a0001c0001t0115g0058 a0001c0001t0116g0097 a0001c0001t0119g0041 a0001c0001t0120g0108 a0001c0001t0126g0043 a0001c0001t0127g0031 a0001c0001t0139g0092 a0001c0002t0001g0099 a0001c0002t0003g0009 a0001c0002t0004g0054 a0001c0002t0005g0090 a0001c0002t0016g0089 a0001c0002t0035g0027 a0001c0002t0037g0091 a0001c0002t0044g0082 a0001c0002t0052g0093 a0001c0002t0053g0084 a0001c0002t0055g0061 a0001c0002t0061g0042 a0001c0002t0131g0140 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0099g0017 a0001c0006t0084g0014 a0001c0006t0104g0150 a0002c0004t0152g0114 a0003c0005t0138g0169 a0004c0012t0017g0111	41	67	0.6119	-9	c.68- others(26): Show c.68-34512_68-34504delATTATTATT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64041875	ATATTATT others(2): Show ATATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(47): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00639.hp2 HG01069.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01978.hp1 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18951.hp2 NA18963.hp2 NA18967.hp1 NA18988.hp1 NA19030.hp2 NA19057.hp2 NA19084.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0002c0004 a0003c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 others(46): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0068 a0001c0001t0075 a0001c0001t0106 a0001c0001t0110 a0001c0001t0112 a0001c0001t0115 a0001c0001t0122 a0001c0001t0123 a0001c0001t0128 a0001c0001t0129 a0001c0001t0148 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0038 a0001c0002t0041 a0001c0002t0046 a0001c0002t0048 a0001c0002t0049 a0001c0002t0054 a0001c0002t0055 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0061 a0001c0002t0063 a0001c0002t0131 a0001c0010t0019 a0001c0013t0043 a0002c0004t0009 a0002c0004t0090 a0002c0004t0150 a0002c0004t0151 a0002c0004t0152 a0002c0004t0153 a0003c0005t0135 a0003c0005t0136 a0003c0005t0137 a0003c0005t0138	a0001c0001t0006g0154 a0001c0001t0009g0143 a0001c0001t0011g0149 others(47): Show a0001c0001t0006g0154 a0001c0001t0009g0143 a0001c0001t0011g0149 a0001c0001t0021g0151 a0001c0001t0068g0163 a0001c0001t0075g0131 a0001c0001t0106g0055 a0001c0001t0110g0056 a0001c0001t0112g0152 a0001c0001t0115g0058 a0001c0001t0122g0073 a0001c0001t0123g0107 a0001c0001t0128g0133 a0001c0001t0129g0165 a0001c0001t0148g0156 a0001c0002t0001g0070 a0001c0002t0004g0054 a0001c0002t0005g0090 a0001c0002t0005g0158 a0001c0002t0025g0146 a0001c0002t0028g0028 a0001c0002t0029g0112 a0001c0002t0032g0147 a0001c0002t0033g0025 a0001c0002t0034g0001 a0001c0002t0038g0029 a0001c0002t0041g0153 a0001c0002t0046g0120 a0001c0002t0048g0088 a0001c0002t0049g0024 a0001c0002t0054g0046 a0001c0002t0055g0061 a0001c0002t0057g0040 a0001c0002t0058g0015 a0001c0002t0059g0125 a0001c0002t0061g0042 a0001c0002t0063g0049 a0001c0002t0131g0140 a0001c0010t0019g0168 a0001c0013t0043g0155 a0002c0004t0009g0053 a0002c0004t0090g0032 a0002c0004t0150g0121 a0002c0004t0151g0109 a0002c0004t0152g0114 a0002c0004t0153g0076 a0003c0005t0135g0013 a0003c0005t0136g0038 a0003c0005t0137g0047 a0003c0005t0138g0169	50	100	0.5000	-9	c.490 others(24): Show c.490-883_490-875delATTATTATT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	145041066	ATATATAT others(2): Show ATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0054 a0003c0003t0004g0055 a0003c0003t0004g0054 a0003c0003t0004g0055	2	54	0.0370	-9	c.68- others(26): Show c.68-45875_68-45867delCTATATATA	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121184990	TGGCGGAG others(2): Show TGGCGGAGGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02109.hp2 others(17): Show HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0001c0005 a0002c0002 others(1): Show a0001c0003 a0001c0005 a0002c0002 a0009c0007	a0001c0003t0004 a0001c0003t0019 a0001c0003t0053 others(4): Show a0001c0003t0004 a0001c0003t0019 a0001c0003t0053 a0001c0003t0055 a0001c0005t0054 a0002c0002t0009 a0009c0007t0052	a0001c0003t0004g0254 a0001c0003t0004g0257 a0001c0003t0004g0258 others(17): Show a0001c0003t0004g0254 a0001c0003t0004g0257 a0001c0003t0004g0258 a0001c0003t0004g0259 a0001c0003t0004g0260 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0019g0255 a0001c0003t0019g0268 a0001c0003t0053g0261 a0001c0003t0055g0262 a0001c0005t0054g0256 a0002c0002t0009g0269 a0002c0002t0009g0270 a0002c0002t0009g0271 a0002c0002t0009g0272 a0009c0007t0052g0273	20	272	0.0735	-9	c.-66 others(18): Show c.-667_-659delGGCGGAGGC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	1/10	2439	INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279414	CTTTTTTC others(2): Show CTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02922.hp2 others(6): Show HG01167.hp1 HG02145.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03209.hp1 HG03579.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0003 a0001c0001t0001 a0001c0001t0004 a0001c0004t0003	a0001c0001t0001g0145 a0001c0001t0001g0167 a0001c0001t0004g0110 others(6): Show a0001c0001t0001g0145 a0001c0001t0001g0167 a0001c0001t0004g0110 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0004t0003g0111 a0001c0004t0003g0146	9	180	0.0500	-9	c.68- others(26): Show c.68-23851_68-23843delCTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372947	CTTTCTTT others(2): Show CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02135.hp2 NA18975.hp1 others(1): Show HG00323.hp1 HG02135.hp2 NA18975.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0003t0026 a0001c0001t0001 a0001c0001t0012 a0001c0003t0026	a0001c0001t0001g0042 a0001c0001t0001g0181 a0001c0001t0012g0081 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0181 a0001c0001t0012g0081 a0001c0003t0026g0143	4	175	0.0229	-9	c.424 others(28): Show c.424-11058_424-11050delTTTTCTTTC	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP54_chr14_34977992_35034567	34998996	TGTGTGTG others(2): Show TGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00741.hp1 others(52): Show HG00099.hp2 HG00621.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01256.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp2 HG02273.hp2 HG03041.hp2 HG03490.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 others(50): Show a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0362 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0377	55	387	0.1421	-9	c.79- others(22): Show c.79-561_79-553delGTGTGTGTG	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	2/15			chr14	TogoVar
SRP54_chr14_34977992_35034567	35007685	TTACATAA others(2): Show TTACATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045	3	394	0.0076	-9	c.360 others(24): Show c.360+301_360+309delCATAAAATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03195.hp2 HG03471.hp1 others(3): Show HG02895.hp1 HG03195.hp2 HG03471.hp1 HG03669.hp2 HG03688.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0002g0067 a0001c0001t0002g0131 others(2): Show a0001c0001t0001g0040 a0001c0001t0002g0067 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0151	6	28	0.2143	-9	c.141 others(24): Show c.141+888_141+896delTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK2_chr7_105111374_105393921	105170915	GGAGAAAG others(2): Show GGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG02647.hp1 others(1): Show HG00099.hp1 HG01256.hp1 HG02647.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0120 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0120 a0001c0001t0001g0151 a0001c0001t0001g0194	4	252	0.0159	-9	c.230 others(26): Show c.230-1659_230-1651delTTCTTTCTC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105280947	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp1 others(62): Show HG00099.hp2 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02055.hp1 HG02083.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18954.hp2 NA18960.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18984.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp2 NA19074.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(62): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0002g0239 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0004t0001g0217	65	76	0.8553	-9	c.72- others(26): Show c.72-77171_72-77163delTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105382552	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(74): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01192.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02976.hp1 HG03130.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 others(74): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0219 a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0008g0073 a0001c0001t0010g0086 a0001c0004t0001g0217 a0002c0003t0001g0031	77	125	0.6160	-9	c.71+ others(24): Show c.71+6087_71+6095delTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105383052	AATTTTTT others(2): Show AATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(83): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19002.hp2 NA19043.hp1 NA19058.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0006t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(83): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0130 a0001c0001t0003g0157 a0001c0001t0006g0137 a0001c0001t0006g0183 a0003c0006t0001g0145	86	105	0.8190	-9	c.71+ others(24): Show c.71+5587_71+5595delAAAAAAAAT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRRD_chr22_26478877_26499658	26495260	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01517.hp1 HG02683.hp1 others(6): Show HG00733.hp1 HG01517.hp1 HG02683.hp1 HG03098.hp1 HG03704.hp2 NA18968.hp1 NA18969.hp1 NA18989.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0091 a0001c0001t0028g0001	9	31	0.2903	-9	c.35 others(20): Show c.3589_*3597delTTTTTTTTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding		603		chr22	TogoVar
SRRM1_chr1_24638302_24678281	24663878	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00642.hp1 others(70): Show HG00280.hp2 HG00408.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01884.hp2 HG02040.hp2 HG02055.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18992.hp2 NA18999.hp2 NA19012.hp2 NA19057.hp2 NA19065.hp2 NA19070.hp2 NA19075.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0010 a0005c0004 a0001c0001 a0001c0010 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0010t0003 a0005c0004t0002	a0001c0001t0001g0020 a0001c0001t0001g0084 a0001c0001t0001g0167 others(57): Show a0001c0001t0001g0020 a0001c0001t0001g0084 a0001c0001t0001g0167 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0003g0015 a0001c0001t0003g0201 a0001c0001t0004g0054 a0001c0001t0004g0060 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0265 a0001c0001t0006g0043 a0001c0001t0006g0275 a0001c0001t0009g0279 a0001c0010t0003g0015 a0005c0004t0002g0061	73	139	0.5252	-9	c.162 others(28): Show c.1628+1104_1628+1112delTAATAATAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM3_chr7_76196896_76292287	76211816	CTATTATT others(2): Show CTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp2 NA19030.hp2 others(1): Show HG02809.hp2 HG02895.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0127 a0001c0001t0002g0279 a0001c0001t0014g0107 others(1): Show a0001c0001t0001g0127 a0001c0001t0002g0279 a0001c0001t0014g0107 a0002c0002t0001g0266	4	193	0.0207	-9	c.-40 others(26): Show c.-40+9782_-40+9790delTTATTATTA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

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