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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SRGAP3_chr3_8975591_9254646	9005945	CAATAAAG others(8): Show CAATAAAGTGGTTTTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp2 others(31): Show HG00099.hp2 HG00323.hp2 HG00639.hp2 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01981.hp1 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA19087.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0010 a0007c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0042 a0001c0001t0049 a0001c0001t0052 a0001c0003t0053 a0001c0004t0011 a0001c0006t0006 a0001c0013t0001 a0002c0010t0015 a0007c0019t0017	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0046 others(31): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0198 a0001c0001t0002g0016 a0001c0001t0002g0155 a0001c0001t0004g0036 a0001c0001t0006g0030 a0001c0001t0006g0109 a0001c0001t0006g0114 a0001c0001t0006g0131 a0001c0001t0006g0209 a0001c0001t0013g0022 a0001c0001t0013g0112 a0001c0001t0013g0211 a0001c0001t0015g0041 a0001c0001t0015g0154 a0001c0001t0017g0098 a0001c0001t0023g0071 a0001c0001t0025g0088 a0001c0001t0042g0186 a0001c0001t0049g0084 a0001c0001t0052g0188 a0001c0003t0053g0205 a0001c0004t0011g0226 a0001c0006t0006g0151 a0001c0013t0001g0057 a0002c0010t0015g0011 a0007c0019t0017g0089	34	226	0.1504	-15	c.222 others(34): Show c.2227+4348_2227+4362delTAAAACCACTTTATT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	18/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9036561	CACAAAAC others(8): Show CACAAAACAAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(46): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01255.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG02027.hp1 HG02071.hp2 HG02135.hp2 HG02886.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18962.hp1 NA18971.hp1 NA18975.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18993.hp2 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19067.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0051 a0001c0003t0053 a0001c0005t0001 a0001c0009t0012 a0003c0008t0002	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0044 others(46): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0063 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0153 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0203 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0152 a0001c0001t0003g0173 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0004g0077 a0001c0001t0004g0120 a0001c0001t0004g0128 a0001c0001t0009g0087 a0001c0001t0011g0200 a0001c0001t0019g0124 a0001c0001t0020g0069 a0001c0001t0023g0134 a0001c0001t0032g0055 a0001c0001t0039g0196 a0001c0001t0040g0023 a0001c0001t0043g0102 a0001c0001t0045g0123 a0001c0001t0048g0165 a0001c0001t0051g0190 a0001c0003t0053g0205 a0001c0005t0001g0007 a0001c0009t0012g0068 a0003c0008t0002g0140 a0003c0008t0002g0177	49	126	0.3889	-15	c.143 others(34): Show c.1436+1487_1436+1501delTTTGTTTTGTTTTGT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	11/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9123394	CACAATAC others(8): Show CACAATACACATACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01099.hp1 others(12): Show HG00438.hp1 HG00544.hp1 HG01099.hp1 HG01515.hp2 HG02109.hp1 HG02647.hp1 HG02895.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp2 NA18993.hp2 NA19067.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0002c0010 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0001c0003t0007 a0001c0005t0001 a0001c0007t0020 a0001c0009t0012 a0002c0010t0015 a0003c0008t0002	a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0090 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0090 a0001c0001t0002g0081 a0001c0001t0003g0113 a0001c0001t0003g0173 a0001c0001t0042g0186 a0001c0001t0044g0160 a0001c0001t0049g0084 a0001c0003t0007g0227 a0001c0005t0001g0007 a0001c0007t0020g0074 a0001c0009t0012g0068 a0002c0010t0015g0011 a0003c0008t0002g0140	15	218	0.0688	-15	c.260 others(32): Show c.260+1316_260+1330delATGTATGTGTATTGT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21						chr3	TogoVar
SRGN_chr10_69083103_69109805	69106662	AAAAAAAA others(8): Show AAAAAAAAAACAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(136): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02896.hp2 HG02976.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0006t0012 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0006t0012 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0141 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0011g0005 a0001c0006t0012g0097 a0002c0002t0001g0072 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0174	139	371	0.3747	-15	c.25 others(26): Show c.2543_*2557delAAAAAAAAACAAAAC		SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding					1858		chr10	TogoVar
SRP72_chr4_56462617_56508681	56492106	TGGGCACC others(8): Show TGGGCACCACGCCCAG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	386	0.0026	-15	c.164 others(32): Show c.1640+539_1640+553delGGGCACCACGCCCAG		SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	16/18						chr4	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	23	0.0435	-15	c.141 others(30): Show c.141+882_141+896delTTTTTTTTTTTTTTT		SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35882062	CAGTAGTA others(8): Show CAGTAGTAGCAGTAGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp2 HG00642.hp1 HG02145.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0008 a0003c0005t0002g0311 a0001c0001t0001g0008 a0003c0005t0002g0311	2	340	0.0059	-15	c.478 others(32): Show c.478+4647_478+4661delACTACTGCTACTACT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35882118	CTAGTAGT others(8): Show CTAGTAGTAGTAGTAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02818.hp1 others(4): Show HG01109.hp2 HG02258.hp2 HG02818.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055	7	72	0.0972	-15	c.478 others(32): Show c.478+4591_478+4605delCTACTACTACTACTA		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35892653	AAACAACA others(8): Show AAACAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19010.hp2 NA18951.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0190 a0001c0001t0001g0087 a0001c0001t0001g0190	2	131	0.0153	-15	c.75- others(30): Show c.75-1655_75-1641delGTTGTTGTTGTTGTT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15						chr6	TogoVar
SRPK2_chr7_105111374_105393921	105280947	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp2 others(46): Show HG00099.hp1 HG00280.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01433.hp2 HG01515.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18949.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19002.hp2 NA19058.hp1 NA19074.hp1 NA19078.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0006t0001	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 others(46): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0002g0130 a0001c0001t0003g0157 a0001c0001t0006g0137 a0001c0001t0006g0183 a0003c0006t0001g0145	49	60	0.8167	-15	c.72- others(32): Show c.72-77177_72-77163delTTTTTTTTTTTTTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105331308	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp2 NA18955.hp1 others(7): Show HG03017.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp1 NA18989.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 others(7): Show a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0113	10	48	0.2083	-15	c.71+ others(32): Show c.71+57325_71+57339delTTTTTTTTTTTTTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPX2_chrX_100639199_100680788	100649484	AAAAAAGA others(8): Show AAAAAAGAAAAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0094 a0001c0001t0019g0094	1	316	0.0032	-15	c.83- others(30): Show c.83-1289_83-1275delGGGGAAAAAGAAAAA		SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRD_chr22_26478877_26499658	26495260	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02818.hp2 others(2): Show HG02486.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0027 a0002c0002t0003g0088 a0002c0002t0003g0027 a0002c0002t0003g0088	5	27	0.1852	-15	c.35 others(26): Show c.3589_*3603delTTTTTTTTTTTTTTT		SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding					603		chr22	TogoVar
SRRM3_chr7_76196896_76292287	76211816	CTATTATT others(8): Show CTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA20905.hp2 NA19030.hp1 NA19043.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0145 a0001c0001t0006g0220 a0001c0001t0007g0221 a0001c0001t0001g0145 a0001c0001t0006g0220 a0001c0001t0007g0221	3	192	0.0156	-15	c.-40 others(32): Show c.-40+9776_-40+9790delTTATTATTATTATTA		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76223820	GCCTTCCC others(8): Show GCCTTCCCTTCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00609.hp2 others(11): Show HG00323.hp2 HG00423.hp1 HG00609.hp2 HG01496.hp2 HG01934.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp2 NA18943.hp1 NA18967.hp2 NA19054.hp1 NA19065.hp2 NA19074.hp2 NA19082.hp1	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0010c0018 a0011c0015 a0001c0001 a0010c0018 a0011c0015	a0001c0001t0001 a0010c0018t0001 a0011c0015t0001 a0001c0001t0001 a0010c0018t0001 a0011c0015t0001	a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 others(11): Show a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0010c0018t0001g0122 a0011c0015t0001g0180	14	82	0.1707	-15	c.-39 others(34): Show c.-39-11149_-39-11135delTCCCTTCCCTTCCCT		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	119075681	TGATGGTG others(8): Show TGATGGTGATGATGAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18995.hp1 NA19086.hp1 HG01496.hp2 NA18995.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0094 a0002c0002t0002g0095 a0002c0002t0002g0242 a0001c0001t0001g0094 a0002c0002t0002g0095 a0002c0002t0002g0242	3	326	0.0092	-15	c.132 others(34): Show c.132-26541_132-26527delAAGATGGTGATGATG		SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119075755	ATGATGGT others(8): Show ATGATGGTGATGATGG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0032 a0001c0001t0039g0032	1	326	0.0031	-15	c.132 others(34): Show c.132-26478_132-26464delATGGTGATGATGGTG		SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119104749	ACTGCATA others(8): Show ACTGCATATGTAACTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01123.hp1 others(34): Show HG00741.hp1 HG01070.hp1 HG01123.hp1 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18945.hp1 NA18955.hp1 NA18998.hp2 NA19058.hp1 NA19070.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0010	a0001c0001 a0001c0007 a0001c0009 others(9): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0019 a0002c0002 a0002c0023 a0003c0003 a0003c0022 a0006c0006 a0008c0020 a0010c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0019 a0001c0001t0035 a0001c0001t0064 a0001c0001t0072 a0001c0001t0079 a0001c0007t0009 a0001c0007t0021 a0001c0007t0031 a0001c0009t0069 a0001c0011t0012 a0001c0011t0025 a0001c0019t0001 a0002c0002t0002 a0002c0002t0020 a0002c0002t0076 a0002c0023t0023 a0003c0003t0001 a0003c0003t0003 a0003c0003t0009 a0003c0003t0013 a0003c0003t0040 a0003c0022t0041 a0006c0006t0002 a0008c0020t0042 a0010c0021t0073	a0001c0001t0001g0064 a0001c0001t0001g0109 a0001c0001t0001g0211 others(33): Show a0001c0001t0001g0064 a0001c0001t0001g0109 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0246 a0001c0001t0003g0001 a0001c0001t0004g0313 a0001c0001t0007g0196 a0001c0001t0012g0141 a0001c0001t0019g0131 a0001c0001t0035g0100 a0001c0001t0064g0185 a0001c0001t0072g0302 a0001c0001t0079g0306 a0001c0007t0009g0022 a0001c0007t0021g0008 a0001c0007t0031g0054 a0001c0009t0069g0108 a0001c0011t0012g0285 a0001c0011t0025g0006 a0001c0019t0001g0176 a0002c0002t0002g0301 a0002c0002t0020g0140 a0002c0002t0076g0277 a0002c0023t0023g0055 a0003c0003t0001g0113 a0003c0003t0001g0119 a0003c0003t0001g0203 a0003c0003t0003g0269 a0003c0003t0009g0014 a0003c0003t0013g0147 a0003c0003t0040g0102 a0003c0022t0041g0063 a0006c0006t0002g0103 a0008c0020t0042g0004 a0010c0021t0073g0283	37	326	0.1135	-15	c.278 others(32): Show c.278+2381_278+2395delTTCTGCATATGTAAC		SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM5_chr19_43607088_43619498	43612464	AGGGGCAC others(8): Show AGGGGCACACACAGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp1 HG00735.hp1	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0001 a0016c0013t0001	a0016c0013t0001g0000 a0016c0013t0001g0000	1	414	0.0024	-15	c.348 others(22): Show c.348_362delCACACACAGCCGGGG	p.Thr others(13): Show p.Thr117_Gly121del	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding	1/1	382/2411	348/2148	116/715		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRRT_chr7_100870103_100893664	100889736	GCCCCGCC others(8): Show GCCCCGCCCCTCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(73): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18956.hp2 NA18961.hp1 NA18963.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18993.hp2 NA19000.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0008t0001	a0001c0001t0001g0161 a0001c0002t0001g0001 a0001c0002t0001g0007 others(28): Show a0001c0001t0001g0161 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0172 a0001c0002t0003g0001 a0001c0002t0003g0015 a0001c0002t0003g0077 a0001c0008t0001g0001	76	346	0.2197	-15	c.11 others(26): Show c.1188_*1202delCCCCGCCCCTCCCCT		SRRT	ENSG00000087087.20	transcript	ENST00000611405.5	protein_coding					1073		chr7	TogoVar
SRRT_chr7_100870103_100893664	100889741	GCCCCTCC others(8): Show GCCCCTCCCCTCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01433.hp2 others(3): Show HG00423.hp1 HG00673.hp1 HG01433.hp2 HG01981.hp2 HG02683.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0002	a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0002g0003 others(3): Show a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0003t0001g0023 a0001c0005t0002g0005	6	241	0.0249	-15	c.11 others(26): Show c.1193_*1207delCCCCTCCCCTCCCCT		SRRT	ENSG00000087087.20	transcript	ENST00000611405.5	protein_coding					1078		chr7	TogoVar
SRSF11_chr1_70216380_70258052	70242856	AGGCAGTG others(8): Show AGGCAGTGTAGTAATT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	336	0.0030	-15	c.801 others(32): Show c.801-1826_801-1812delGCAGTGTAGTAATTG		SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRSF12_chr6_89090959_89123071	89093907	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 NA20805.hp2 HG01496.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0080 a0001c0001t0014g0079 a0001c0001t0002g0080 a0001c0001t0014g0079	2	211	0.0095	-15	c.46 others(26): Show c.4656_*4670delAAAAAAAAAAAAAAA		SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding					2051		chr6	TogoVar
SRSF4_chr1_29142743_29186900	29159108	ACAAACCA others(8): Show ACAAACCAAACCAAAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG02055.hp1 others(4): Show HG00733.hp2 HG01109.hp1 HG02055.hp1 HG02451.hp1 HG02965.hp2 HG02970.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0087 a0001c0001t0003g0088 a0003c0003t0001g0098 others(4): Show a0001c0001t0003g0087 a0001c0001t0003g0088 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102	7	158	0.0443	-15	c.363 others(30): Show c.363+251_363+265delGTTTGGTTTGGTTTG		SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	3/5						chr1	TogoVar
SRSF6_chr20_43452896_43469243	43461334	GTTGTTTT others(8): Show GTTGTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00597.hp2 others(57): Show HG00099.hp1 HG00408.hp1 HG00597.hp2 HG00642.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG02040.hp1 HG02080.hp2 HG02135.hp1 HG02257.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG04184.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18956.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18986.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19057.hp2 NA19059.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0036 a0001c0001t0037	a0001c0001t0003g0002 a0001c0001t0003g0029 a0001c0001t0003g0034 others(6): Show a0001c0001t0003g0002 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0009g0002 a0001c0001t0009g0014 a0001c0001t0036g0002 a0001c0001t0037g0002	60	365	0.1644	-15	c.27 others(24): Show c.274_*288delGTTTTTTTTTTTTTT		SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	6/6				274	INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62150633	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp2 HG01168.hp1 others(30): Show HG00544.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01943.hp1 HG02004.hp2 HG02129.hp1 HG02132.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp1 NA18960.hp1 NA18980.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0009 a0005c0011 others(1): Show a0001c0001 a0001c0009 a0005c0011 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0009t0001 a0005c0011t0001 a0006c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0002g0254 a0001c0001t0018g0003 a0001c0001t0020g0039 a0001c0001t0022g0058 a0001c0009t0001g0003 a0001c0009t0001g0063 a0005c0011t0001g0038 a0006c0015t0001g0277	33	40	0.8250	-15	c.69+ others(30): Show c.69+6767_69+6781delTTTTTTTTTTTTTTT		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62160261	GTGGGGAG others(8): Show GTGGGGAGAGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	314	0.0032	-15	c.231 others(30): Show c.231+315_231+329delATGGGGAGAGGTGGG		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62160346	GTGGAGAG others(8): Show GTGGAGAGAGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00609.hp2 others(25): Show HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG01099.hp1 HG01884.hp1 HG02165.hp2 HG02602.hp2 HG02738.hp1 HG03130.hp1 HG03471.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18961.hp1 NA18981.hp1 NA18985.hp1 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0003c0008t0002 a0001c0001t0002 a0001c0001t0003 a0003c0008t0002	a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0222 others(25): Show a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0288 a0001c0001t0003g0213 a0003c0008t0002g0259	28	314	0.0892	-15	c.231 others(30): Show c.231+389_231+403delAGAGAGGTGGGATGG		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62165528	CTGCGTGC others(8): Show CTGCGTGCTGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(59): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp1 HG01884.hp1 HG02056.hp1 HG02074.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02738.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18961.hp1 NA18971.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18999.hp1 NA19000.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0002t0004 a0001c0002t0010 a0001c0002t0014 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0012t0004 a0003c0008t0002	a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0142 others(59): Show a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0142 a0001c0001t0002g0178 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0288 a0001c0001t0003g0213 a0001c0001t0019g0230 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0261 a0001c0002t0004g0263 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0267 a0001c0002t0004g0268 a0001c0002t0004g0271 a0001c0002t0004g0272 a0001c0002t0004g0275 a0001c0002t0010g0260 a0001c0002t0010g0262 a0001c0002t0010g0273 a0001c0002t0014g0274 a0001c0002t0014g0276 a0001c0002t0023g0269 a0001c0002t0025g0278 a0001c0002t0026g0270 a0001c0012t0004g0281 a0003c0008t0002g0220 a0003c0008t0002g0259	62	314	0.1975	-15	c.916 others(28): Show c.916+15_916+29delTGCGTGCTGGGCTCG		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10						chr20	TogoVar
SSBP2_chr5_81407804_81756097	81418927	GCTTTTCA others(8): Show GCTTTTCAAAGTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0083 a0001c0001t0062g0083	1	204	0.0049	-15	c.15 others(26): Show c.1562_*1576delAGAGACTTTGAAAAG		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17				1562		chr5	TogoVar
SSBP2_chr5_81407804_81756097	81643595	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0187 a0001c0001t0017g0187	1	39	0.0256	-15	c.135 others(32): Show c.135+6657_135+6671delAAAAAAAAAAAAAAA		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	2/16						chr5	TogoVar
SSBP2_chr5_81407804_81756097	81686868	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG01069.hp2 others(18): Show HG00621.hp2 HG00733.hp1 HG01069.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG02055.hp2 HG02683.hp1 HG03017.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(12): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0045 a0001c0001t0055 a0001c0001t0071 a0001c0001t0072 a0001c0002t0001 a0001c0002t0010 a0001c0002t0052 a0001c0003t0033	a0001c0001t0002g0121 a0001c0001t0006g0137 a0001c0001t0008g0133 others(18): Show a0001c0001t0002g0121 a0001c0001t0006g0137 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0008g0140 a0001c0001t0008g0146 a0001c0001t0016g0125 a0001c0001t0018g0192 a0001c0001t0019g0135 a0001c0001t0026g0190 a0001c0001t0045g0087 a0001c0001t0055g0120 a0001c0001t0071g0126 a0001c0001t0072g0127 a0001c0002t0001g0070 a0001c0002t0001g0132 a0001c0002t0001g0166 a0001c0002t0010g0136 a0001c0002t0010g0139 a0001c0002t0052g0119 a0001c0003t0033g0193	21	163	0.1288	-15	c.63- others(32): Show c.63-36544_63-36530delCTTTTCTTTTCTTTT		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16						chr5	TogoVar
SSBP3_chr1_54220432_54411394	54239093	GTGTCTGA others(8): Show GTGTCTGATATGTAAA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	278	0.0036	-15	c.927 others(28): Show c.927+21_927+35delTTTACATATCAGACA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240108	GCGCGCGC others(8): Show GCGCGCGCGCGCGCAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0279 a0001c0001t0022g0279	1	278	0.0036	-15	c.856 others(30): Show c.856+782_856+796delTTGCGCGCGCGCGCG		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54289030	AAAAAAAC others(8): Show AAAAAAACAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 NA20300.hp2 HG02717.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0039 a0001c0003t0006 a0001c0001t0005 a0001c0001t0039 a0001c0003t0006	a0001c0001t0005g0118 a0001c0001t0039g0232 a0001c0003t0006g0162 a0001c0001t0005g0118 a0001c0001t0039g0232 a0001c0003t0006g0162	3	275	0.0109	-15	c.277 others(32): Show c.277-7518_277-7504delGTTTTTTTGTTTTTT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54294160	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	189	0.0053	-15	c.277 others(34): Show c.277-12648_277-12634delCTTTCTTTCTTTCTT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54316654	AAAAAATA others(8): Show AAAAAATAAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp1 HG04199.hp1 others(10): Show HG00323.hp2 HG01192.hp1 HG04199.hp1 NA18957.hp2 NA18990.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19063.hp2 NA19070.hp2 NA19081.hp1 NA19088.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0037 a0001c0001t0038	a0001c0001t0002g0043 a0001c0001t0003g0191 a0001c0001t0003g0211 others(10): Show a0001c0001t0002g0043 a0001c0001t0003g0191 a0001c0001t0003g0211 a0001c0001t0003g0216 a0001c0001t0006g0166 a0001c0001t0007g0222 a0001c0001t0009g0196 a0001c0001t0017g0205 a0001c0001t0017g0212 a0001c0001t0022g0275 a0001c0001t0027g0247 a0001c0001t0037g0231 a0001c0001t0038g0197	13	257	0.0506	-15	c.277 others(34): Show c.277-35142_277-35128delATTTATTTTATTTTT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54316658	AATAAAAT others(8): Show AATAAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(15): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG01081.hp2 HG01256.hp2 HG01258.hp1 HG01943.hp2 HG02148.hp1 HG02300.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp2 NA18967.hp1 NA18979.hp2 NA19066.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0045	a0001c0001t0001g0055 a0001c0001t0003g0176 a0001c0001t0003g0195 others(15): Show a0001c0001t0001g0055 a0001c0001t0003g0176 a0001c0001t0003g0195 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0004g0051 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0098 a0001c0001t0005g0100 a0001c0001t0005g0150 a0001c0001t0008g0254 a0001c0001t0008g0258 a0001c0001t0011g0015 a0001c0001t0011g0016 a0001c0001t0015g0017 a0001c0001t0019g0257 a0001c0001t0045g0264	18	240	0.0750	-15	c.277 others(34): Show c.277-35146_277-35132delATTTATTTATTTTAT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSC4D_chr7_76384337_76414697	76395690	CTCCTCTT others(8): Show CTCCTCTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0085 a0001c0004t0003g0085	1	386	0.0026	-15	c.869 others(30): Show c.869-375_869-361delAAAAAGAAAAGAGGA		SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	6/10						chr7	TogoVar
SSC5D_chr19_55483436_55524099	55517967	ACCACAAC others(8): Show ACCACAACCCCTCACT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02572.hp2 HG03041.hp2 HG01884.hp1 HG02572.hp2 HG03041.hp2	a0020 a0031 a0020 a0031	a0020c0044 a0031c0062 a0020c0044 a0031c0062	a0020c0044t0001 a0031c0062t0001 a0020c0044t0001 a0031c0062t0001	a0020c0044t0001g0384 a0020c0044t0001g0385 a0031c0062t0001g0284 a0020c0044t0001g0384 a0020c0044t0001g0385 a0031c0062t0001g0284	3	410	0.0073	-15	c.370 others(24): Show c.3706_3720delTCCACAACCCCTCAC	p.Ser others(15): Show p.Ser1236_His1240del	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	14/14	3860/4977	3706/4722	1236/1573		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108849918	ACATGGGG others(8): Show ACATGGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19065.hp1 NA18983.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0206 a0001c0001t0004g0207	2	330	0.0061	-15	c.110 others(32): Show c.110+2705_110+2719delCTCCCCTCCCCCATG		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14						chr12	TogoVar
SSH1_chr12_108773191_108862583	108859881	AGGAGGGG others(8): Show AGGAGGGGAGAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02257.hp1 others(8): Show HG01243.hp1 HG01884.hp2 HG02257.hp1 HG02486.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03471.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0010 a0001c0001t0012 a0001c0001t0035 others(3): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0035 a0001c0003t0039 a0001c0009t0049 a0001c0009t0050	a0001c0001t0010g0028 a0001c0001t0010g0240 a0001c0001t0010g0241 others(8): Show a0001c0001t0010g0028 a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0001t0010g0242 a0001c0001t0010g0243 a0001c0001t0010g0244 a0001c0001t0012g0305 a0001c0001t0035g0304 a0001c0003t0039g0301 a0001c0009t0049g0302 a0001c0009t0050g0303	11	322	0.0342	-15	c.-24 others(26): Show c.-2400_-2386delCCTCCTCTCCCCTCC		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding					2299		chr12	TogoVar
SSH1_chr12_108773191_108862583	108859946	AGGAGGGG others(8): Show AGGAGGGGAGAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0294 a0001c0001t0031g0294	1	295	0.0034	-15	c.-24 others(26): Show c.-2465_-2451delCCTCCTCTCCCCTCC		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding					2364		chr12	TogoVar
SSTR1_chr14_38202904_38218067	38205795	AAATAATA others(8): Show AAATAATAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp1 others(67): Show HG00099.hp1 HG00140.hp1 HG00609.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02155.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02698.hp2 HG02809.hp1 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18951.hp1 NA18954.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18972.hp2 NA18983.hp2 NA18991.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0010 a0001c0002t0033 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0005g0002 a0001c0001t0006g0001 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0010g0001 a0001c0002t0033g0001 a0001c0003t0004g0002	70	113	0.6195	-15	c.-28 others(26): Show c.-2820_-2806delAATAATAATAATAAT		SSTR1	ENSG00000139874.6	transcript	ENST00000267377.3	protein_coding					2108		chr14	TogoVar
SSTR5_chr16_1067747_1086454	1076433	CTGTCTCT others(8): Show CTGTCTCTCTGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	348	0.0029	-15	c.-27 others(32): Show c.-27-2393_-27-2379delTGTCTCTCTGGCTGG		SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
SSU72_chr1_1536673_1579863	1571244	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03130.hp2 NA19002.hp1 HG00280.hp1 HG03130.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0248 a0001c0002t0002g0312 a0001c0002t0002g0336 a0001c0001t0001g0248 a0001c0002t0002g0312 a0001c0002t0002g0336	3	30	0.1000	-15	c.80+ others(30): Show c.80+3219_80+3233delTTTTTTTTTTTTTTT		SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4						chr1	TogoVar
SSX2IP_chr1_84638706_84695461	84682982	TTTCCCCC others(8): Show TTTCCCCCATTACAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(133): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18948.hp1 NA18951.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0009 a0004c0006 a0006c0005 a0007c0007	a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 others(14): Show a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 a0002c0001t0008 a0002c0001t0009 a0002c0001t0011 a0002c0001t0013 a0002c0001t0016 a0002c0001t0017 a0002c0001t0020 a0002c0001t0021 a0002c0001t0022 a0002c0004t0001 a0002c0009t0001 a0004c0006t0001 a0006c0005t0001 a0007c0007t0001	a0001c0002t0002g0079 a0001c0002t0002g0124 a0001c0003t0003g0084 others(103): Show a0001c0002t0002g0079 a0001c0002t0002g0124 a0001c0003t0003g0084 a0001c0003t0003g0092 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0006 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0030 a0002c0001t0001g0044 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0179 a0002c0001t0001g0220 a0002c0001t0008g0032 a0002c0001t0008g0123 a0002c0001t0009g0026 a0002c0001t0009g0085 a0002c0001t0009g0111 a0002c0001t0011g0042 a0002c0001t0011g0043 a0002c0001t0013g0031 a0002c0001t0016g0029 a0002c0001t0017g0041 a0002c0001t0020g0047 a0002c0001t0021g0076 a0002c0001t0022g0113 a0002c0004t0001g0094 a0002c0009t0001g0073 a0004c0006t0001g0118 a0006c0005t0001g0077 a0007c0007t0001g0117	136	318	0.4277	-15	c.-90 others(32): Show c.-90+7374_-90+7388delTCTGTAATGGGGGAA		SSX2IP	ENSG00000117155.17	transcript	ENST00000342203.8	protein_coding	1/13						chr1	TogoVar
ST3GAL1_chr8_133449848_133576887	133576564	TCAAAAAA others(8): Show TCAAAAAAACAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01515.hp1 HG03704.hp2 others(3): Show HG01081.hp1 HG01515.hp1 HG03704.hp2 HG04199.hp1 NA18982.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0005 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0003t0005 a0001c0004t0003 a0001c0004t0012	a0001c0001t0001g0040 a0001c0001t0001g0198 a0001c0003t0005g0149 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0198 a0001c0003t0005g0149 a0001c0003t0005g0156 a0001c0004t0003g0107 a0001c0004t0012g0151	6	328	0.0183	-15	c.-54 others(26): Show c.-5468_-5454delTTTTTTGTTTTTTTG		ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding					4678		chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70389202	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp2 HG01496.hp1 others(1): Show HG01358.hp2 HG01361.hp2 HG01496.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0001 a0001c0001t0002 a0001c0001t0027	a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0051 others(1): Show a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0051 a0001c0001t0027g0065	4	16	0.2500	-15	c.534 others(30): Show c.534-671_534-657delTTTTTTTTTTTTTTT		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	3/6						chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70443115	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0296 a0001c0001t0007g0296	1	257	0.0039	-15	c.-51 others(26): Show c.-5185_-5171delAAAAAAAAAAAAAAA		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding					4016		chr16	TogoVar

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