Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BAZ1B_chr7_73435406_73527293	73518987	AAGTTAG AAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 NA19043.hp2 HG01243.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0006g0199 a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0006g0199	3	198	0.0152	-6	c.107 others(23): Show c.107+2834_107+2839delCTAACT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	1/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73526864	AAAAAAT AAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG02145.hp2 others(3): Show HG01192.hp2 HG01884.hp2 HG02145.hp2 HG02486.hp1 HG02809.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 others(3): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0053 a0001c0001t0007g0176	6	198	0.0303	-6	c.-49 others(17): Show c.-4937_-4932delATTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4572		chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159316689	CAAAAAA CAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02615.hp2 others(4): Show HG00639.hp2 HG02109.hp1 HG02615.hp2 HG02895.hp1 HG02965.hp1 HG03540.hp2 HG03579.hp2	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0001 a0001c0019 a0001c0020 others(2): Show a0001c0001 a0001c0019 a0001c0020 a0006c0006 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0019t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0019t0002 a0001c0020t0001 a0006c0006t0002 a0015c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0002g0141 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0002g0141 a0001c0019t0002g0136 a0001c0020t0001g0046 a0006c0006t0002g0149 a0015c0017t0001g0006	7	56	0.1250	-6	c.35 others(17): Show c.3570_*3575delTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding		2289		chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02615.hp1 HG01123.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0160 a0001c0001t0002g0140 a0001c0001t0002g0160	2	80	0.0250	-6	c.635 others(23): Show c.6353+180_6353+185delGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159377858	ATCTCCT ATCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19064.hp1 HG02135.hp1 NA19064.hp1	a0016 a0019 a0016 a0019	a0016c0022 a0019c0015 a0016c0022 a0019c0015	a0016c0022t0001 a0019c0015t0002 a0016c0022t0001 a0019c0015t0002	a0016c0022t0001g0027 a0019c0015t0002g0168 a0016c0022t0001g0027 a0019c0015t0002g0168	2	214	0.0093	-6	c.400 others(25): Show c.4006-3111_4006-3106delAGGAGA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501135	TATTTTA TATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp2 others(47): Show HG00099.hp1 HG00140.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG02135.hp2 HG02300.hp1 HG02698.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp1 NA18942.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0009 a0019 a0020 a0021	a0001c0001 a0001c0008 a0002c0002 others(6): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0005c0005 a0009c0014 a0019c0015 a0020c0032 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0002c0002t0002 a0003c0003t0002 a0005c0005t0002 a0009c0014t0002 a0019c0015t0002 a0020c0032t0002 a0021c0021t0002	a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0073 others(47): Show a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0127 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0008t0002g0159 a0002c0002t0002g0151 a0002c0002t0002g0163 a0003c0003t0002g0177 a0005c0005t0002g0167 a0005c0005t0002g0173 a0009c0014t0002g0181 a0019c0015t0002g0168 a0020c0032t0002g0154 a0021c0021t0002g0171	50	214	0.2336	-6	c.-2- others(23): Show c.-2-22420_-2-22415delTAAAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159541259	CTTATTA CTTATTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(89): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19055.hp2 NA19057.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0017 a0018	a0001c0001 a0001c0008 a0001c0023 others(17): Show a0001c0001 a0001c0008 a0001c0023 a0001c0029 a0002c0002 a0002c0007 a0002c0028 a0003c0003 a0003c0013 a0004c0004 a0004c0009 a0005c0005 a0006c0006 a0007c0010 a0008c0011 a0010c0031 a0013c0030 a0014c0025 a0017c0027 a0018c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0008t0001 a0001c0023t0002 a0001c0029t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0007t0002 a0002c0028t0002 a0003c0003t0001 a0003c0013t0006 a0004c0004t0001 a0004c0009t0001 a0005c0005t0001 a0005c0005t0002 a0006c0006t0001 a0007c0010t0001 a0007c0010t0003 a0008c0011t0001 a0010c0031t0001 a0013c0030t0001 a0014c0025t0001 a0017c0027t0001 a0018c0026t0001	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 others(89): Show a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0148 a0001c0001t0002g0162 a0001c0001t0002g0205 a0001c0001t0002g0214 a0001c0001t0004g0003 a0001c0001t0004g0110 a0001c0001t0005g0130 a0001c0001t0007g0086 a0001c0001t0008g0131 a0001c0008t0001g0035 a0001c0008t0001g0061 a0001c0023t0002g0147 a0001c0029t0001g0111 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0002g0186 a0002c0002t0002g0206 a0002c0007t0001g0045 a0002c0007t0002g0185 a0002c0007t0002g0215 a0002c0028t0002g0216 a0003c0003t0001g0031 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0062 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0013t0006g0058 a0004c0004t0001g0005 a0004c0004t0001g0071 a0004c0004t0001g0080 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100 a0005c0005t0001g0034 a0005c0005t0001g0042 a0005c0005t0001g0070 a0005c0005t0002g0203 a0006c0006t0001g0007 a0006c0006t0001g0085 a0007c0010t0001g0113 a0007c0010t0001g0114 a0007c0010t0003g0002 a0008c0011t0001g0052 a0008c0011t0001g0084 a0010c0031t0001g0108 a0013c0030t0001g0039 a0014c0025t0001g0115 a0017c0027t0001g0106 a0018c0026t0001g0079	92	173	0.5318	-6	c.-3+ others(23): Show c.-3+14558_-3+14563delTAATAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159574142	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(79): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18946.hp1 NA18952.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18969.hp1 NA18974.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19081.hp2 NA19082.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0012 a0013 a0016 a0017 a0018	a0001c0001 a0001c0008 a0001c0020 others(15): Show a0001c0001 a0001c0008 a0001c0020 a0002c0002 a0002c0007 a0003c0003 a0003c0013 a0004c0004 a0004c0009 a0005c0005 a0006c0006 a0008c0011 a0011c0024 a0012c0012 a0013c0030 a0016c0022 a0017c0027 a0018c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0008t0001 a0001c0020t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0003c0003t0001 a0003c0013t0006 a0004c0004t0001 a0004c0009t0001 a0005c0005t0001 a0006c0006t0001 a0008c0011t0001 a0011c0024t0001 a0012c0012t0001 a0013c0030t0001 a0016c0022t0001 a0017c0027t0001 a0018c0026t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 others(79): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0205 a0001c0001t0004g0003 a0001c0001t0007g0086 a0001c0008t0001g0061 a0001c0020t0001g0046 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0128 a0002c0002t0002g0206 a0002c0007t0001g0045 a0003c0003t0001g0009 a0003c0003t0001g0014 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0062 a0003c0003t0001g0067 a0003c0013t0006g0058 a0004c0004t0001g0005 a0004c0004t0001g0013 a0004c0004t0001g0071 a0004c0004t0001g0080 a0004c0009t0001g0010 a0005c0005t0001g0034 a0005c0005t0001g0042 a0005c0005t0001g0070 a0005c0005t0001g0094 a0006c0006t0001g0007 a0008c0011t0001g0052 a0008c0011t0001g0084 a0011c0024t0001g0088 a0012c0012t0001g0074 a0013c0030t0001g0039 a0016c0022t0001g0027 a0017c0027t0001g0106 a0018c0026t0001g0079	82	139	0.5899	-6	c.-45 others(25): Show c.-45-18283_-45-18278delGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01515.hp2 others(5): Show HG00558.hp2 HG00609.hp1 HG01515.hp2 HG03540.hp1 NA18968.hp1 NA18969.hp2 NA19079.hp1 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0112 a0001c0001t0001g0116 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0003g0001 a0002c0002t0001g0125 a0002c0002t0001g0126 a0004c0004t0001g0119	8	64	0.1250	-6	c.-46 others(25): Show c.-46+26049_-46+26054delTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74028467	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00738.hp1 others(8): Show HG00558.hp1 HG00642.hp1 HG00738.hp1 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02965.hp1 HG06807.hp2 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0005c0005	a0001c0001t0003 a0001c0008t0007 a0002c0002t0001 others(2): Show a0001c0001t0003 a0001c0008t0007 a0002c0002t0001 a0002c0002t0010 a0005c0005t0003	a0001c0001t0003g0337 a0001c0001t0003g0340 a0001c0001t0003g0341 others(8): Show a0001c0001t0003g0337 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0008t0007g0137 a0001c0008t0007g0139 a0002c0002t0001g0221 a0002c0002t0001g0252 a0002c0002t0001g0274 a0002c0002t0010g0338 a0002c0002t0010g0339 a0005c0005t0003g0350	11	174	0.0632	-6	c.286 others(21): Show c.286-677_286-672delCACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74036135	AACCTCC AACCTCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02622.hp1 others(5): Show HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0017 a0002c0002t0001g0192 a0002c0002t0001g0193 others(4): Show a0002c0002t0001g0017 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0010g0338 a0002c0002t0010g0339	8	384	0.0208	-6	c.495 others(23): Show c.495+1971_495+1976delACCTCC	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74042873	CACACAG CACACAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02818.hp2 others(3): Show HG02451.hp2 HG02486.hp2 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0008 a0005c0005t0016 a0005c0005t0003 a0005c0005t0008 a0005c0005t0016	a0005c0005t0003g0350 a0005c0005t0003g0351 a0005c0005t0008g0354 others(3): Show a0005c0005t0003g0350 a0005c0005t0003g0351 a0005c0005t0008g0354 a0005c0005t0008g0355 a0005c0005t0008g0356 a0005c0005t0016g0357	6	384	0.0156	-6	c.576 others(23): Show c.576+2234_576+2239delGACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74042879	GACACAC GACACAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02486.hp1 others(10): Show HG01243.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0008 a0003c0003 others(1): Show a0001c0001 a0001c0008 a0003c0003 a0004c0006	a0001c0001t0003 a0001c0008t0007 a0003c0003t0003 others(1): Show a0001c0001t0003 a0001c0008t0007 a0003c0003t0003 a0004c0006t0001	a0001c0001t0003g0025 a0001c0001t0003g0141 a0001c0001t0003g0280 others(10): Show a0001c0001t0003g0025 a0001c0001t0003g0141 a0001c0001t0003g0280 a0001c0008t0007g0137 a0001c0008t0007g0139 a0003c0003t0003g0184 a0004c0006t0001g0130 a0004c0006t0001g0131 a0004c0006t0001g0132 a0004c0006t0001g0133 a0004c0006t0001g0134 a0004c0006t0001g0135 a0004c0006t0001g0136	13	112	0.1161	-6	c.576 others(23): Show c.576+2261_576+2266delACACAC	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27085555	ATCTCTC ATCTCTC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18522.hp1 NA18612.hp2 HG02083.hp1 NA18522.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0066 a0001c0001t0002g0155 a0001c0002t0001g0178 a0001c0001t0002g0066 a0001c0001t0002g0155 a0001c0002t0001g0178	3	92	0.0326	-6	c.335 others(23): Show c.335-7577_335-7572delCTCTCT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27120005	GTTTTTA GTTTTTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG02074.hp2 others(12): Show HG00639.hp1 HG01123.hp2 HG02074.hp2 HG02135.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA18946.hp2 NA18954.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0006 a0001c0002t0004g0125 a0001c0002t0004g0127 others(10): Show a0001c0002t0004g0006 a0001c0002t0004g0125 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0130 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0134 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0280 a0001c0002t0004g0281	15	316	0.0475	-6	c.836 others(21): Show c.836+163_836+168delTTTATT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01243.hp1 others(21): Show HG00544.hp2 HG00741.hp2 HG01243.hp1 HG01358.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02145.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03688.hp1 NA18986.hp1 NA18986.hp2 NA19002.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0002c0012 a0009c0013	a0001c0001t0001 a0001c0006t0004 a0001c0007t0008 others(3): Show a0001c0001t0001 a0001c0006t0004 a0001c0007t0008 a0002c0002t0002 a0002c0012t0001 a0009c0013t0005	a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0006t0004g0013 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 a0001c0007t0008g0089 a0002c0002t0002g0088 a0002c0002t0002g0112 a0002c0012t0001g0010 a0009c0013t0005g0035	24	91	0.2637	-6	c.-11 others(21): Show c.-11+536_-11+541delCACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS2_chr16_56479385_56525024	56493383	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02622.hp2 others(8): Show HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0003 a0001c0001 a0001c0008 a0003c0003	a0001c0001t0003 a0001c0008t0003 a0003c0003t0003 a0001c0001t0003 a0001c0008t0003 a0003c0003t0003	a0001c0001t0003g0279 a0001c0008t0003g0278 a0003c0003t0003g0037 others(6): Show a0001c0001t0003g0279 a0001c0008t0003g0278 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0271 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0275 a0003c0003t0003g0276	11	310	0.0355	-6	c.191 others(25): Show c.1910+3578_1910+3583delTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	15/16			chr16	TogoVar
BBS2_chr16_56479385_56525024	56495766	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp2 HG02717.hp1 others(2): Show HG01099.hp2 HG02622.hp2 HG02717.hp1 HG03098.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0002c0011	a0001c0001t0003 a0001c0008t0003 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0008t0003 a0002c0002t0001 a0002c0011t0001	a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(2): Show a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 a0002c0002t0001g0254 a0002c0011t0001g0263	5	103	0.0485	-6	c.191 others(25): Show c.1910+1195_1910+1200delCACACA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	15/16			chr16	TogoVar
BBS4_chr15_72681207_72743473	72702802	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(59): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00741.hp1 HG01123.hp1 HG01167.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03491.hp1 HG03579.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18972.hp2 NA18981.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0010c0009t0001	a0001c0001t0001g0172 a0001c0001t0001g0311 a0001c0001t0001g0312 others(59): Show a0001c0001t0001g0172 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0283 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0327 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0393 a0001c0001t0002g0394 a0001c0001t0010g0267 a0010c0009t0001g0310	62	80	0.7750	-6	c.77- others(21): Show c.77-6880_77-6875delTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72720131	ATTTTAC ATTTTAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp2 HG01192.hp1 others(4): Show HG00639.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01943.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(4): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0337	7	396	0.0177	-6	c.406 others(23): Show c.406-2657_406-2652delCTTTTA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169477413	GACAACA GACAACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01192.hp2 HG01261.hp1 others(45): Show HG00423.hp1 HG01192.hp2 HG01261.hp1 HG01358.hp2 HG02129.hp2 HG02135.hp1 HG02257.hp2 HG02630.hp1 HG02735.hp1 HG02970.hp1 HG03130.hp1 HG03239.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18961.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18986.hp1 NA18987.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19072.hp2 NA19075.hp1 NA19077.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042	a0001c0001t0001g0140 a0001c0001t0002g0003 a0001c0001t0002g0010 others(34): Show a0001c0001t0001g0140 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0025g0003 a0001c0001t0025g0130 a0001c0001t0026g0036 a0001c0001t0029g0115 a0001c0001t0030g0129 a0001c0001t0035g0139 a0001c0001t0037g0136 a0001c0001t0042g0133	48	388	0.1237	-6	c.-21 others(17): Show c.-2140_-2135delACAACA	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding		2080		chr2	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01192.hp2 HG02129.hp2 others(12): Show HG00423.hp1 HG01192.hp2 HG02129.hp2 HG03195.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18953.hp1 NA18970.hp1 NA19004.hp2 NA19010.hp1 NA19062.hp2 NA19064.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0025 a0001c0001t0042 others(1): Show a0001c0001t0002 a0001c0001t0025 a0001c0001t0042 a0001c0002t0012	a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0118 others(6): Show a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0132 a0001c0001t0025g0003 a0001c0001t0042g0133 a0001c0002t0012g0240	15	27	0.5556	-6	c.386 others(23): Show c.386+1773_386+1778delTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS7_chr4_121819329_121875474	121832009	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03239.hp2 NA18984.hp2 HG00597.hp2 HG03239.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0010g0203 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0010g0203	3	130	0.0231	-6	c.167 others(25): Show c.1676+1216_1676+1221delGTGTGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18			chr4	TogoVar
BBS7_chr4_121819329_121875474	121832042	ACAAAAC ACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01106.hp1 others(3): Show HG00099.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01346.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0158 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0175	6	372	0.0161	-6	c.167 others(25): Show c.1676+1183_1676+1188delGTTTTG	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18			chr4	TogoVar
BBS7_chr4_121819329_121875474	121842251	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02572.hp2 others(8): Show HG01884.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086	11	296	0.0372	-6	c.130 others(25): Show c.1305+1670_1305+1675delTTTTTT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	12/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33229348	CTAATTT CTAATTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0012 a0013 a0015	a0001c0001 a0001c0009 a0001c0010 others(15): Show a0001c0001 a0001c0009 a0001c0010 a0001c0020 a0001c0023 a0001c0025 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0005c0005 a0006c0011 a0006c0012 a0008c0007 a0009c0008 a0012c0016 a0013c0018 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0009t0001 a0001c0010t0001 a0001c0020t0002 a0001c0023t0001 a0001c0025t0003 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0002c0017t0001 a0003c0003t0001 a0005c0005t0001 a0005c0005t0007 a0006c0011t0001 a0006c0012t0007 a0006c0012t0015 a0008c0007t0001 a0008c0007t0002 a0009c0008t0001 a0009c0008t0002 a0012c0016t0002 a0013c0018t0001 a0015c0024t0011	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(182): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0013 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0202 a0001c0001t0005g0218 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0007g0228 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0016g0071 a0001c0001t0017g0226 a0001c0001t0018g0171 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0010t0001g0167 a0001c0020t0002g0069 a0001c0023t0001g0168 a0001c0025t0003g0030 a0001c0026t0001g0068 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0018 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0011g0014 a0002c0002t0011g0016 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0145 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0005c0005t0001g0139 a0005c0005t0001g0180 a0005c0005t0007g0128 a0005c0005t0007g0138 a0006c0011t0001g0236 a0006c0011t0001g0238 a0006c0012t0007g0235 a0006c0012t0015g0237 a0008c0007t0001g0149 a0008c0007t0002g0046 a0009c0008t0001g0122 a0009c0008t0002g0121 a0012c0016t0002g0268 a0013c0018t0001g0127 a0015c0024t0011g0024	185	266	0.6955	-6	c.443 others(25): Show c.443-27887_443-27882delTAATTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33257184	ATTATAT ATTATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA21309.hp2 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0013g0041 a0001c0001t0013g0042	2	266	0.0075	-6	c.443 others(19): Show c.443-46_443-41delTTTATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33332678	AAACAAC AAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(32): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01517.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 NA18949.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0015c0024	a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0014 a0015c0024t0011	a0001c0001t0003g0027 a0001c0001t0004g0013 a0001c0025t0003g0030 others(32): Show a0001c0001t0003g0027 a0001c0001t0004g0013 a0001c0025t0003g0030 a0002c0002t0001g0160 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0018 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0011g0014 a0002c0002t0011g0016 a0002c0002t0014g0005 a0002c0002t0014g0029 a0015c0024t0011g0024	35	45	0.7778	-6	c.101 others(25): Show c.1017-3736_1017-3731delCAACAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33353629	GTTTATC GTTTATC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(41): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG02055.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG03017.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 NA18949.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19083.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0002c0017 others(1): Show a0001c0001 a0002c0002 a0002c0017 a0015c0024	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(9): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0002c0017t0001 a0015c0024t0011	a0001c0001t0003g0027 a0002c0002t0001g0130 a0002c0002t0001g0136 others(41): Show a0001c0001t0003g0027 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0018 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0011g0014 a0002c0002t0011g0016 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0002c0017t0001g0267 a0015c0024t0011g0024	44	266	0.1654	-6	c.155 others(23): Show c.1552+762_1552+767delCTTTAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33360715	GGGTCCC GGGTCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01255.hp1 others(4): Show HG00741.hp1 HG01109.hp2 HG01255.hp1 HG02486.hp2 HG02965.hp2 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0001c0001t0001 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0155 others(4): Show a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0239 a0001c0001t0010g0170 a0001c0001t0018g0171	7	266	0.0263	-6	c.169 others(25): Show c.1693+2721_1693+2726delGGTCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	16/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33389687	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00741.hp1 others(31): Show HG00140.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0004c0004 a0004c0022 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0010t0001 a0002c0002t0001 a0004c0004t0001 a0004c0022t0001 a0005c0005t0001 a0005c0005t0007	a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0154 others(31): Show a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0239 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0003g0038 a0001c0001t0004g0013 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0018g0171 a0001c0010t0001g0079 a0002c0002t0001g0195 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185 a0005c0005t0001g0139 a0005c0005t0001g0180 a0005c0005t0007g0128 a0005c0005t0007g0138	34	111	0.3063	-6	c.211 others(25): Show c.2115+1566_2115+1571delAAAAAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33441287	AAAAAAT AAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01981.hp2 HG02015.hp2 others(24): Show HG00423.hp2 HG01981.hp2 HG02015.hp2 HG02074.hp2 HG02155.hp1 HG02293.hp2 HG03834.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18982.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0020 a0001c0026 others(1): Show a0001c0001 a0001c0020 a0001c0026 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0020t0002 a0001c0026t0001 a0003c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(24): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0048 a0001c0001t0002g0112 a0001c0001t0003g0008 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0016g0071 a0001c0020t0002g0069 a0001c0026t0001g0068 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208	27	266	0.1015	-6	c.211 others(27): Show c.2115+53148_2115+53153delATAAAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33467027	CTCTCTT CTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp2 others(34): Show HG00140.hp1 HG00423.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01106.hp1 HG01168.hp2 HG01261.hp2 HG01516.hp1 HG01975.hp1 HG02055.hp1 HG02056.hp1 HG02451.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 NA18522.hp2 NA18942.hp1 NA18960.hp1 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19082.hp1 NA19087.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0006c0012t0007 a0006c0012t0015	a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0078 others(34): Show a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0010g0117 a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0002g0123 a0003c0003t0001g0145 a0006c0012t0007g0235 a0006c0012t0015g0237	37	266	0.1391	-6	c.211 others(27): Show c.2116-38435_2116-38430delTCTCTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01168.hp2 HG02055.hp2 others(10): Show HG00423.hp1 HG01168.hp2 HG02055.hp2 HG02630.hp1 HG02818.hp2 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA19010.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0011 others(1): Show a0001c0001 a0002c0002 a0006c0011 a0006c0012	a0001c0001t0001 a0002c0002t0001 a0006c0011t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0006c0011t0001 a0006c0012t0007	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0157 others(10): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0181 a0002c0002t0001g0136 a0002c0002t0001g0179 a0002c0002t0001g0189 a0006c0011t0001g0236 a0006c0011t0001g0238 a0006c0012t0007g0235	13	51	0.2549	-6	c.211 others(27): Show c.2116-12613_2116-12608delGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33516487	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01255.hp1 others(8): Show HG01081.hp1 HG01109.hp1 HG01255.hp1 HG02056.hp2 HG02129.hp2 HG02165.hp1 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG03486.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0022 a0001c0001 a0002c0002 a0004c0022	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0004c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0204 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0002g0163 a0002c0002t0001g0130 a0002c0002t0001g0219 a0002c0002t0003g0017 a0004c0022t0001g0185	11	124	0.0887	-6	c.229 others(27): Show c.2298+10861_2298+10866delAAAAAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542788	TGTACAC TGTACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00558.hp2 others(24): Show HG00140.hp2 HG00423.hp1 HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG02486.hp2 HG02572.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 NA18942.hp1 NA18949.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA19000.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19082.hp1 NA19090.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0002c0002t0003 a0004c0004t0001 a0013c0018t0001	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0074 others(24): Show a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0002g0093 a0001c0001t0003g0009 a0001c0001t0003g0027 a0001c0001t0008g0210 a0001c0001t0018g0171 a0002c0002t0003g0003 a0002c0002t0003g0028 a0002c0002t0003g0031 a0004c0004t0001g0184 a0013c0018t0001g0127	27	248	0.1089	-6	c.252 others(25): Show c.2521+8613_2521+8618delGTACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33542790	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02074.hp1 HG02132.hp1 others(10): Show HG01074.hp1 HG02074.hp1 HG02132.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG03209.hp2 NA18942.hp2 NA18946.hp1 NA18967.hp2 NA19077.hp1 NA19085.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0014 a0009c0008t0002	a0001c0001t0001g0077 a0001c0001t0001g0216 a0001c0001t0005g0066 others(10): Show a0001c0001t0001g0077 a0001c0001t0001g0216 a0001c0001t0005g0066 a0001c0001t0006g0054 a0001c0001t0006g0081 a0001c0001t0006g0101 a0001c0001t0006g0107 a0002c0002t0003g0023 a0002c0002t0004g0032 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0014g0005 a0009c0008t0002g0121	13	65	0.2000	-6	c.252 others(25): Show c.2521+8658_2521+8663delCACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01106.hp1 others(9): Show HG00558.hp2 HG00741.hp2 HG01106.hp1 HG02132.hp2 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG03098.hp2 HG03669.hp1 NA18612.hp1 NA19081.hp2 NA19090.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0015 a0001c0001 a0002c0002 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0004 a0014c0015t0001	a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0097 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0217 a0001c0001t0002g0082 a0001c0001t0002g0105 a0001c0001t0003g0009 a0001c0001t0003g0027 a0002c0002t0004g0022 a0014c0015t0001g0098	12	67	0.1791	-6	c.252 others(27): Show c.2521+31646_2521+31651delTATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33574684	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18961.hp1 NA18964.hp1 others(1): Show NA18951.hp2 NA18961.hp1 NA18964.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0141 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0141 a0001c0001t0001g0201 a0001c0001t0001g0206	4	171	0.0234	-6	c.252 others(27): Show c.2522-30144_2522-30139delACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33581095	TGAGAGA TGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp2 HG03669.hp2 others(5): Show HG01261.hp2 HG02602.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18946.hp2 NA19083.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0162 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0162 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0003g0036 a0002c0002t0003g0011	8	166	0.0482	-6	c.252 others(27): Show c.2522-23754_2522-23749delAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596257	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03688.hp2 others(5): Show HG03491.hp2 HG03492.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 NA18980.hp1 NA19063.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0001c0001t0001 a0001c0001t0003 a0001c0010t0001	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0075 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0110 a0001c0001t0001g0256 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0010t0001g0167	8	229	0.0349	-6	c.252 others(25): Show c.2522-8571_2522-8566delACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596294	ACACACT ACACACT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG03209.hp2 others(1): Show HG02258.hp2 HG02559.hp2 HG03209.hp2 NA18522.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0005 a0006c0012 a0002c0002 a0005c0005 a0006c0012	a0002c0002t0007 a0005c0005t0007 a0006c0012t0007 a0002c0002t0007 a0005c0005t0007 a0006c0012t0007	a0002c0002t0007g0165 a0002c0002t0007g0166 a0005c0005t0007g0128 others(1): Show a0002c0002t0007g0165 a0002c0002t0007g0166 a0005c0005t0007g0128 a0006c0012t0007g0235	4	255	0.0157	-6	c.252 others(25): Show c.2522-8570_2522-8565delCACACT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33597069	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(21): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00733.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp1 NA18522.hp1 NA18982.hp2 NA19030.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0009 a0001c0013 others(4): Show a0001c0001 a0001c0009 a0001c0013 a0002c0002 a0004c0004 a0005c0005 a0006c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 a0001c0009t0001 a0001c0013t0010 a0002c0002t0019 a0004c0004t0001 a0005c0005t0001 a0006c0011t0001	a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0074 others(21): Show a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0003g0027 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0001t0018g0171 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0013t0010g0260 a0002c0002t0019g0043 a0004c0004t0001g0187 a0005c0005t0001g0139 a0005c0005t0001g0180 a0006c0011t0001g0236 a0006c0011t0001g0238	24	101	0.2376	-6	c.252 others(25): Show c.2522-7757_2522-7752delCACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107584672	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01256.hp2 others(21): Show HG00738.hp1 HG01070.hp1 HG01256.hp2 HG01517.hp2 HG01891.hp1 HG01993.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03831.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 others(13): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0040 a0001c0001t0053 a0001c0001t0058 a0001c0007t0014 a0002c0002t0002 a0002c0002t0005 a0004c0005t0001 a0004c0005t0002	a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 others(21): Show a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0010g0036 a0001c0001t0010g0101 a0001c0001t0014g0030 a0001c0001t0015g0038 a0001c0001t0016g0210 a0001c0001t0016g0211 a0001c0001t0020g0023 a0001c0001t0021g0103 a0001c0001t0027g0164 a0001c0001t0040g0007 a0001c0001t0053g0022 a0001c0001t0058g0014 a0001c0007t0014g0047 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0005g0011 a0004c0005t0001g0064 a0004c0005t0002g0165	24	44	0.5455	-6	c.-84 others(25): Show c.-84+58305_-84+58310delTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107616005	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01081.hp2 others(9): Show HG00140.hp1 HG00735.hp2 HG01081.hp2 HG01496.hp1 HG01884.hp1 HG02615.hp1 HG02818.hp2 HG02895.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0051 a0001c0001t0053	a0001c0001t0002g0205 a0001c0001t0002g0214 a0001c0001t0002g0216 others(9): Show a0001c0001t0002g0205 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0005g0019 a0001c0001t0005g0147 a0001c0001t0006g0098 a0001c0001t0014g0030 a0001c0001t0014g0208 a0001c0001t0020g0099 a0001c0001t0023g0175 a0001c0001t0051g0029 a0001c0001t0053g0022	12	37	0.3243	-6	c.-83 others(25): Show c.-83-29799_-83-29794delTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp2 HG01516.hp1 others(11): Show HG00738.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02280.hp1 HG02293.hp2 HG02630.hp2 HG02735.hp1 HG03041.hp1 HG03688.hp1 HG03710.hp2 HG04184.hp1 NA19070.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0039 a0002c0002t0005 a0005c0009t0007	a0001c0001t0001g0172 a0001c0001t0002g0009 a0001c0001t0002g0010 others(11): Show a0001c0001t0001g0172 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0102 a0001c0001t0003g0095 a0001c0001t0003g0152 a0001c0001t0003g0207 a0001c0001t0007g0067 a0001c0001t0009g0150 a0001c0001t0017g0202 a0001c0001t0019g0145 a0001c0001t0039g0070 a0002c0002t0005g0011 a0005c0009t0007g0068	14	36	0.3889	-6	c.-83 others(23): Show c.-83-7008_-83-7003delCACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107700411	CATCATT CATCATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp1 others(55): Show HG00140.hp2 HG00639.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02735.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp1 HG04184.hp2 HG06807.hp1 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18962.hp2 NA18963.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18986.hp1 NA18988.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19012.hp2 NA19043.hp2 NA19058.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0033 a0001c0001t0036 a0001c0001t0054 a0001c0001t0057 a0008c0010t0001	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0041 others(55): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0002g0116 a0001c0001t0002g0162 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0220 a0001c0001t0003g0001 a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0003g0129 a0001c0001t0003g0138 a0001c0001t0003g0174 a0001c0001t0003g0198 a0001c0001t0004g0100 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0149 a0001c0001t0004g0159 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0203 a0001c0001t0006g0026 a0001c0001t0006g0049 a0001c0001t0012g0039 a0001c0001t0016g0210 a0001c0001t0016g0211 a0001c0001t0019g0196 a0001c0001t0033g0108 a0001c0001t0036g0075 a0001c0001t0054g0040 a0001c0001t0057g0197 a0008c0010t0001g0163	58	205	0.2829	-6	c.-9- others(23): Show c.-9-10038_-9-10033delCATTAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107700414	CATTATT CATTATT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01884.hp1 others(17): Show HG00639.hp1 HG00735.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(12): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0041 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0004t0009 a0002c0002t0002	a0001c0001t0002g0205 a0001c0001t0006g0098 a0001c0001t0010g0036 others(17): Show a0001c0001t0002g0205 a0001c0001t0006g0098 a0001c0001t0010g0036 a0001c0001t0010g0101 a0001c0001t0010g0104 a0001c0001t0014g0030 a0001c0001t0014g0208 a0001c0001t0015g0037 a0001c0001t0015g0038 a0001c0001t0020g0023 a0001c0001t0020g0099 a0001c0001t0021g0103 a0001c0001t0023g0175 a0001c0001t0041g0212 a0001c0001t0044g0213 a0001c0001t0051g0029 a0001c0001t0052g0032 a0001c0001t0053g0022 a0001c0004t0009g0117 a0002c0002t0002g0002	20	175	0.1143	-6	c.-9- others(22): Show c.-9-10002_-9-9997delTATTAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02965.hp2 HG03195.hp2 HG01081.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0044 a0001c0001t0002 a0001c0001t0044	a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0044g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0044g0213	3	83	0.0361	-6	c.235 others(25): Show c.2354-1164_2354-1159delTATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAM_chr19_44804103_44826421	44815459	CAGATGG CAGATGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(44): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00738.hp2 HG02056.hp2 HG02071.hp2 HG02135.hp1 HG02148.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03654.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18970.hp1 NA18985.hp1 NA18987.hp1 NA18993.hp2 NA19001.hp1 NA19004.hp2 NA19009.hp1 NA19056.hp1 NA19063.hp1 NA19068.hp2 NA19076.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0014 others(4): Show a0001c0001 a0001c0003 a0001c0014 a0001c0031 a0002c0002 a0002c0007 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0014t0005 a0001c0031t0002 a0002c0002t0001 a0002c0002t0006 a0002c0007t0002 a0008c0021t0002	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0136 others(23): Show a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0002g0014 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0141 a0001c0003t0002g0008 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0145 a0001c0014t0005g0008 a0001c0031t0002g0008 a0002c0002t0001g0021 a0002c0002t0001g0049 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0006g0021 a0002c0007t0002g0030 a0002c0007t0002g0072 a0002c0007t0002g0075 a0008c0021t0002g0014	47	408	0.1152	-6	c.107 others(23): Show c.1078+700_1078+705delAGATGG	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	8/14			chr19	TogoVar

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