Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18948.hp1 NA19011.hp2 others(2): Show HG02083.hp1 NA18948.hp1 NA19011.hp2 NA19063.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0003g0160	5	19	0.2632	13	c.164 others(30): Show c.164-4820_164-4808dupTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRD_chr22_26478877_26499658	26490559	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00738.hp1 others(57): Show HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02129.hp2 HG02145.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03492.hp2 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18950.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18989.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19072.hp1 NA19082.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0013g0002 a0001c0001t0014g0002 a0001c0001t0031g0012 a0001c0001t0032g0012	60	117	0.5128	13	c.764 others(28): Show c.764+371_764+383dupTTTTTTTTTTTTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG02027.hp1 others(12): Show HG00280.hp1 HG00673.hp1 HG02027.hp1 HG02135.hp1 HG03209.hp1 HG03491.hp1 HG04199.hp1 NA18940.hp2 NA18966.hp2 NA18969.hp1 NA18982.hp1 NA18986.hp1 NA19006.hp1 NA19009.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0035 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0257 a0001c0001t0002g0188	15	129	0.1163	13	c.-28 others(24): Show c.-2808_-2807insAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM2_chr16_2747638_2776412	2752821	T T	TCGGAGGC others(6): Show TCGGAGGCGGCGGG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0011 a0002c0043t0011	a0002c0043t0011g0001 a0002c0043t0011g0001	1	400	0.0025	13	c.-43 others(22): Show c.-43_-32+1dupCGGAGGCGGCGGG	SRRM2	ENSG00000167978.19	transcript	ENST00000301740.13	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRRM3_chr7_76196896_76292287	76221359	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	138	0.0072	13	c.-39 others(32): Show c.-39-13660_-39-13648dupTTTTTTTTTTTTT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76236005	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00639.hp2 others(46): Show HG00438.hp1 HG00609.hp2 HG00639.hp2 HG01175.hp1 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG02055.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp1 HG02717.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0007c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0003g0176 a0007c0013t0001g0073	49	165	0.2970	13	c.233 others(28): Show c.233+719_233+731dupAAAAAAAAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76277740	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	313	0.0032	13	c.100 others(32): Show c.1009-3700_1009-3699insAAGAAAGAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76277744	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18973.hp2 HG02683.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0009 a0001c0001t0001 a0001c0004t0009	a0001c0001t0001g0081 a0001c0004t0009g0136 a0001c0001t0001g0081 a0001c0004t0009g0136	2	136	0.0147	13	c.100 others(32): Show c.1009-3696_1009-3695insAAGAAAGAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	118998268	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02630.hp2 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0016 a0004c0004t0029 a0001c0001t0016 a0004c0004t0029	a0001c0001t0016g0046 a0004c0004t0029g0058 a0001c0001t0016g0046 a0004c0004t0029g0058	2	85	0.0235	13	c.131 others(32): Show c.131+16274_131+16286dupAAAAAAAAAAAAA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119100327	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0324 a0003c0003t0013g0324	1	105	0.0095	13	c.132 others(30): Show c.132-1905_132-1893dupAAAAAAAAAAAAA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRSF11_chr1_70216380_70258052	70242472	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00642.hp1 others(105): Show HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0141 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0006g0234 a0001c0001t0008g0089 a0001c0001t0012g0001 a0001c0001t0013g0224 a0001c0005t0001g0062	108	309	0.3495	13	c.801 others(30): Show c.801-2202_801-2201insTTTTTTTTTTTTT	SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRSF3_chr6_36589362_36610600	36596574	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02027.hp1 HG02055.hp1 others(21): Show HG00642.hp1 HG02027.hp1 HG02055.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02602.hp1 HG02738.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 NA18942.hp2 NA18954.hp1 NA18960.hp1 NA18969.hp1 NA18973.hp2 NA18978.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18994.hp2 NA19060.hp2 NA19080.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(18): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0003g0137 a0001c0001t0012g0139 a0001c0001t0014g0136 a0001c0001t0027g0030	24	90	0.2667	13	c.-2- others(26): Show c.-2-177_-2-176insGGGGGGGGGGGGG	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF4_chr1_29142743_29186900	29178353	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02055.hp1 HG02451.hp1 others(2): Show HG00733.hp2 HG02055.hp1 HG02451.hp1 HG02970.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 others(2): Show a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102	5	130	0.0385	13	c.107 others(30): Show c.107+3292_107+3293insAAAAAAAAAAAAA	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	1/5			chr1	TogoVar
SRXN1_chr20_641615_658200	646515	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01243.hp1 others(11): Show HG00738.hp1 HG01074.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG01934.hp2 HG02622.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03688.hp1 HG04199.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010	a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0027 others(5): Show a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0058 a0001c0001t0003g0078 a0001c0001t0008g0012 a0001c0001t0008g0090 a0001c0001t0010g0067	14	24	0.5833	13	c.21 others(24): Show c.2198_*2199insTTTTTTTTTTTTT	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		99		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62167038	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03654.hp1 HG03654.hp2 others(3): Show HG02572.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 NA18981.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0142 a0001c0001t0002g0217 others(3): Show a0001c0001t0002g0123 a0001c0001t0002g0142 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0246 a0001c0001t0002g0254	6	252	0.0238	13	c.916 others(30): Show c.916+1527_916+1528insTTTTTTTTTTTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSBP2_chr5_81407804_81756097	81488059	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0178 a0001c0002t0022g0178	1	203	0.0049	13	c.432 others(30): Show c.432+1190_432+1191insATATATATATATA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	6/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18998.hp1 NA19089.hp1 HG01516.hp1 NA18998.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0017 a0001c0001t0015 a0001c0001t0017	a0001c0001t0015g0014 a0001c0001t0017g0205 a0001c0001t0017g0212 a0001c0001t0015g0014 a0001c0001t0017g0205 a0001c0001t0017g0212	3	128	0.0234	13	c.927 others(30): Show c.927+3668_927+3680dupAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0129 a0001c0005t0025g0129	1	61	0.0164	13	c.366 others(30): Show c.366+4817_366+4829dupTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02074.hp1 HG03041.hp2 others(1): Show HG01358.hp1 HG02074.hp1 HG03041.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0005t0025	a0001c0001t0004g0131 a0001c0001t0008g0251 a0001c0001t0010g0268 others(1): Show a0001c0001t0004g0131 a0001c0001t0008g0251 a0001c0001t0010g0268 a0001c0005t0025g0129	4	66	0.0606	13	c.277 others(32): Show c.277-55971_277-55959dupAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02258.hp1 HG02886.hp1 others(6): Show HG01516.hp2 HG02258.hp1 HG02886.hp1 HG03130.hp2 HG03486.hp1 HG03492.hp1 HG03688.hp1 NA18944.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0047 a0001c0001t0001g0142 a0001c0001t0001g0143 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0002g0135 a0001c0001t0005g0086 a0001c0001t0005g0132 a0001c0001t0013g0031 a0001c0001t0014g0154	9	84	0.1071	13	c.276 others(32): Show c.276+15165_276+15177dupAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02145.hp2 NA18982.hp1 others(5): Show HG02074.hp1 HG02145.hp2 NA18982.hp1 NA18986.hp2 NA18998.hp2 NA19012.hp2 NA19067.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0006t0015	a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0134 others(5): Show a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0004g0113 a0001c0001t0010g0268 a0001c0006t0015g0010	8	104	0.0769	13	c.276 others(30): Show c.276+5655_276+5667dupTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSB_chr2_169793871_169817064	169814468	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(158): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0002 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0002g0117 a0001c0002t0001g0010 a0002c0004t0002g0012 a0002c0004t0002g0130 a0003c0006t0001g0067 a0004c0007t0001g0057	161	186	0.8656	13	c.27 others(24): Show c.2712_*2713insAAAAAAAAAAAAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding		2405		chr2	TogoVar
SSC4D_chr7_76384337_76414697	76403347	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18969.hp1 NA18974.hp1 others(1): Show HG02523.hp1 NA18969.hp1 NA18974.hp1 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0005 a0006c0009 a0001c0004 a0001c0005 a0006c0009	a0001c0004t0003 a0001c0005t0001 a0006c0009t0003 a0001c0004t0003 a0001c0005t0001 a0006c0009t0003	a0001c0004t0003g0086 a0001c0005t0001g0279 a0001c0005t0001g0287 others(1): Show a0001c0004t0003g0086 a0001c0005t0001g0279 a0001c0005t0001g0287 a0006c0009t0003g0141	4	328	0.0122	13	c.133 others(28): Show c.133+959_133+960insAAAAAAAAAAAAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	2/10			chr7	TogoVar
SSC4D_chr7_76384337_76414697	76405271	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	117	0.0085	13	c.-66 others(28): Show c.-66-767_-66-766insTATATATATATAT	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495234	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03942.hp1 NA18941.hp2 others(1): Show HG03490.hp2 HG03942.hp1 NA18941.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0040	a0001c0001t0001 a0001c0006t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0002 a0003c0040t0002	a0001c0001t0001g0229 a0001c0006t0001g0343 a0002c0002t0002g0261 others(1): Show a0001c0001t0001g0229 a0001c0006t0001g0343 a0002c0002t0002g0261 a0003c0040t0002g0296	4	345	0.0116	13	c.138 others(30): Show c.1387+451_1387+452insATATATATATATA	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13			chr19	TogoVar
SSH2_chr17_29620938_29935228	29895439	T T	TATTTTAT others(6): Show TATTTTATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG02615.hp2 HG03209.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0015c0012 a0001c0003 a0015c0012	a0001c0003t0010 a0015c0012t0010 a0001c0003t0010 a0015c0012t0010	a0001c0003t0010g0118 a0015c0012t0010g0134 a0001c0003t0010g0118 a0015c0012t0010g0134	2	230	0.0087	13	c.63+ others(30): Show c.63+34486_63+34498dupGTATATATAAAAT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	85	0.0118	13	c.63+ others(30): Show c.63+16590_63+16591insATATATATATTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAATTAT others(6): Show AAAATTATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	85	0.0118	13	c.63+ others(30): Show c.63+16590_63+16591insATATATATAATTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	85	0.0118	13	c.63+ others(30): Show c.63+16590_63+16591insATATATATATATT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSTR2_chr17_73160010_73181633	73177644	A A	AGCAAAAA others(6): Show AGCAAAAAGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	452	0.0022	13	c.72 others(24): Show c.7215_*7216insGCAAAAAGGGTTG	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding		1012		chr17	TogoVar
SSTR5_chr16_1067747_1086454	1076271	T T	TCTCCTCC others(6): Show TCTCCTCCCTGCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0097 a0001c0001t0012g0097	1	347	0.0029	13	c.-27 others(30): Show c.-27-2570_-27-2569insTCCTCCCTGCCAC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
SSU72_chr1_1536673_1579863	1540824	G G	GTCCAGCC others(6): Show GTCCAGCCCCGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	384	0.0026	13	c.12 others(24): Show c.1241_*1242insAGCCGGGGCTGGA	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding		848		chr1	TogoVar
SSU72_chr1_1536673_1579863	1567912	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	74	0.0135	13	c.81- others(28): Show c.81-3009_81-2997dupTTTTTTTTTTTTT	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4			chr1	TogoVar
SSX4B_chrX_48397082_48416960	48413977	A A	AAGGGAAG others(6): Show AAGGGAAGGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG02451.hp2 others(10): Show HG01074.hp1 HG01175.hp1 HG02451.hp2 HG02683.hp1 HG02738.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18971.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0068 a0001c0001t0002g0002 a0001c0001t0002g0006 others(6): Show a0001c0001t0001g0068 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0004g0039 a0001c0001t0004g0040	13	84	0.1548	13	c.-21 others(24): Show c.-2137_-2136insCCTTCCCTTCCCT	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding		2018		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381130	T T	TTCTTTCT others(6): Show TTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	104	0.0096	13	c.-24 others(24): Show c.-2455_-2454insTCTTTCTTTCTTC	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2408		chrX	TogoVar
SSX7_chrX_52639061_52659900	52655660	T T	TTTTATTT others(6): Show TTTTATTTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03130.hp1 HG02818.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	265	0.0075	13	c.-92 others(22): Show c.-920_-919insTAAATAAAATAAA	SSX7	ENSG00000187754.9	transcript	ENST00000298181.6	protein_coding		761		chrX	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	145	0.0069	13	c.58 others(24): Show c.5874_*5875insTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST18_chr8_52105838_52414756	52130102	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02976.hp1 HG03041.hp1 others(2): Show HG02080.hp1 HG02976.hp1 HG03041.hp1 NA18612.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0002t0006	a0001c0001t0003g0026 a0001c0001t0004g0024 a0001c0001t0006g0052 others(2): Show a0001c0001t0003g0026 a0001c0001t0004g0024 a0001c0001t0006g0052 a0001c0001t0013g0069 a0001c0002t0006g0060	5	102	0.0490	13	c.266 others(32): Show c.2666+1843_2666+1855dupTCTTTCTTTCTTT	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	22/25			chr8	TogoVar
ST18_chr8_52105838_52414756	52367270	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	102	0.0098	13	c.-46 others(34): Show c.-465+42057_-465+42058insGTGTGTGTGTGTG	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70389202	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18975.hp1 NA18998.hp2 others(4): Show NA18959.hp1 NA18975.hp1 NA18998.hp2 NA19070.hp2 NA19079.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0054 a0001c0001t0002g0069 a0001c0001t0003g0196 others(4): Show a0001c0001t0002g0054 a0001c0001t0002g0069 a0001c0001t0003g0196 a0001c0001t0004g0017 a0001c0001t0012g0136 a0001c0001t0013g0097 a0001c0001t0013g0151	7	19	0.3684	13	c.534 others(28): Show c.534-669_534-657dupTTTTTTTTTTTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	3/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70408890	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02896.hp1 HG03041.hp1 HG00738.hp1 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0066 a0001c0001t0003 a0001c0001t0011 a0001c0001t0066	a0001c0001t0003g0104 a0001c0001t0011g0204 a0001c0001t0066g0114 a0001c0001t0003g0104 a0001c0001t0011g0204 a0001c0001t0066g0114	3	21	0.1429	13	c.-10 others(34): Show c.-1003-9370_-1003-9358dupTTTTTTTTTTTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG02027.hp1 others(13): Show HG00423.hp1 HG00738.hp1 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02258.hp1 HG02559.hp2 HG02970.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18962.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0065 a0001c0001t0066 a0001c0001t0076 a0001c0001t0087 a0001c0001t0090	a0001c0001t0003g0170 a0001c0001t0003g0177 a0001c0001t0003g0215 others(13): Show a0001c0001t0003g0170 a0001c0001t0003g0177 a0001c0001t0003g0215 a0001c0001t0003g0267 a0001c0001t0004g0015 a0001c0001t0010g0279 a0001c0001t0010g0280 a0001c0001t0010g0284 a0001c0001t0010g0286 a0001c0001t0018g0171 a0001c0001t0018g0225 a0001c0001t0065g0281 a0001c0001t0066g0114 a0001c0001t0076g0282 a0001c0001t0087g0169 a0001c0001t0090g0032	16	107	0.1495	13	c.-10 others(36): Show c.-1003-10720_-1003-10708dupAAAAAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70429588	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG03098.hp2 others(4): Show HG02280.hp1 HG02886.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0043 a0001c0001t0062 others(1): Show a0001c0001t0007 a0001c0001t0043 a0001c0001t0062 a0001c0001t0064	a0001c0001t0007g0288 a0001c0001t0007g0293 a0001c0001t0007g0295 others(4): Show a0001c0001t0007g0288 a0001c0001t0007g0293 a0001c0001t0007g0295 a0001c0001t0007g0296 a0001c0001t0043g0275 a0001c0001t0062g0292 a0001c0001t0064g0294	7	241	0.0290	13	c.-10 others(34): Show c.-1004+9348_-1004+9360dupTTTTTTTTTTTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70431985	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0298 a0001c0001t0010g0277 a0001c0001t0007g0298 a0001c0001t0010g0277	2	274	0.0073	13	c.-10 others(34): Show c.-1004+6963_-1004+6964insAAATATATATATA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70431985	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02723.hp1 others(7): Show HG02280.hp1 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0046 a0001c0001t0062 others(2): Show a0001c0001t0007 a0001c0001t0046 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064	a0001c0001t0007g0289 a0001c0001t0007g0291 a0001c0001t0007g0293 others(7): Show a0001c0001t0007g0289 a0001c0001t0007g0291 a0001c0001t0007g0293 a0001c0001t0007g0295 a0001c0001t0007g0296 a0001c0001t0007g0297 a0001c0001t0046g0299 a0001c0001t0062g0292 a0001c0001t0063g0290 a0001c0001t0064g0294	10	282	0.0355	13	c.-10 others(34): Show c.-1004+6963_-1004+6964insAAAAATATATATA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70431985	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03486.hp1 HG02109.hp1 HG02451.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0037 a0001c0001t0007 a0001c0001t0037	a0001c0001t0007g0287 a0001c0001t0037g0308 a0001c0001t0037g0309 a0001c0001t0007g0287 a0001c0001t0037g0308 a0001c0001t0037g0309	3	275	0.0109	13	c.-10 others(34): Show c.-1004+6963_-1004+6964insAAAAAAATATATA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43817570	T T	TCTTCTCC others(6): Show TCTTCTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(117): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0039 others(117): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0274 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0083 a0001c0001t0002g0135 a0001c0001t0002g0149 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0234 a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0006g0060 a0001c0001t0007g0063 a0001c0001t0008g0036 a0001c0001t0009g0037 a0001c0001t0010g0151	120	155	0.7742	13	c.209 others(30): Show c.209+2648_209+2649insTCCTTCTCCTTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43838114	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp2 others(47): Show HG00099.hp2 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01496.hp1 HG01891.hp1 HG01952.hp1 HG02015.hp1 HG02258.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18949.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19085.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0005 a0001c0001t0001g0136 a0001c0001t0001g0138 others(47): Show a0001c0001t0001g0005 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0274 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0234 a0001c0001t0010g0151	50	82	0.6098	13	c.210 others(27): Show c.210-101_210-89dupAAAAAAAAAAAAA	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43882979	A A	ATTTATTT others(6): Show ATTTATTTATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(36): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG01074.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02165.hp2 HG02523.hp1 HG02615.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG03704.hp2 NA18951.hp1 NA18954.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19010.hp2 NA19011.hp1 NA19074.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0070 a0001c0001t0002g0001 a0001c0001t0002g0012 others(36): Show a0001c0001t0001g0070 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0094 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0237 a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0009g0037	39	110	0.3545	13	c.303 others(32): Show c.303-11404_303-11403insTTTATTTATTTTT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11			chr1	TogoVar
ST3GAL4_chr11_126350686_126419638	126362454	G G	GCCTCCCA others(6): Show GCCTCCCAAAGTGT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	321	0.0031	13	c.-61 others(30): Show c.-61+6613_-61+6625dupCCTCCCAAAGTGT	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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