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
PTGES3L_chr17_42963103_42985080	42973222	G G	GCCCCGTC others(218): Show GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCTACCCCGTCCGGGACGGAGGTGG GGGGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCGGCCCGGCCAGCTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00621.hp1 others(19): Show HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02300.hp1 HG02523.hp2 HG02683.hp2 HG03195.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA19004.hp1 NA19057.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0214 a0004c0004t0001g0192	22	336	0.0655	225	c.289 others(242): Show c.289-1527_289-1526insTAGCTGGCCGGGCCGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCGTCCCGGACGGGGTAGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	4/6			chr17	TogoVar
PTPN21_chr14_88460778_88560007	88530492	G G	GATAAAAG others(218): Show GATAAAAGCTCTTAATCTTGAAACAAAACCTCAAAATATACCAAAATAGA AACTCCTTAAAGCATAAATCTCACAGGGCCTATAAAACAGTAACACAATG GGGGAAAAAAACCCAAATTATTCAGGCAACAACTAGCACGATGAATAGAG CAGTACCTCACATTTCAGTACTAACCTTGAATGTAAATGGTCCTAAATGC TTCCCTTAAAAGATACAGAATGGATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	348	0.0029	225	c.181 others(244): Show c.181-13232_181-13231insTATCCATTCTGTATCTTTTAAGGGAA GCATTTAGGACCATTTACATTCAAGGTTAGTACTGAAATGTGAGGTACTG CTCTATTCATCGTGCTAGTTGTTGCCTGAATAATTTGGGTTTTTTTCCCC CATTGTGTTACTGTTTTATAGGCCCTGTGAGATTTATGCTTTAAGGAGTT TCTATTTTGGTATATTTTGAGGTTTTGTTTCAAGATTAAGAGCTTTTAT	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(218): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02572.hp1 others(7): Show HG01243.hp2 HG02109.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0016 a0002c0002t0035 a0002c0002t0004 a0002c0002t0016 a0002c0002t0035	a0002c0002t0004g0241 a0002c0002t0004g0243 a0002c0002t0004g0244 others(7): Show a0002c0002t0004g0241 a0002c0002t0004g0243 a0002c0002t0004g0244 a0002c0002t0004g0245 a0002c0002t0004g0247 a0002c0002t0004g0248 a0002c0002t0004g0249 a0002c0002t0016g0242 a0002c0002t0016g0246 a0002c0002t0035g0250	10	252	0.0397	225	c.139 others(244): Show c.139-18395_139-18394insAGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(218): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp2 others(63): Show HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03834.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18977.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp2 NA18999.hp2 NA19007.hp2 NA19009.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042	a0001c0001t0001g0097 a0001c0001t0002g0152 a0001c0001t0002g0155 others(63): Show a0001c0001t0001g0097 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0006g0023 a0001c0001t0006g0166 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0194 a0001c0001t0007g0199 a0001c0001t0007g0229 a0001c0001t0011g0237 a0001c0001t0014g0223 a0001c0001t0014g0239 a0001c0001t0018g0240 a0001c0001t0019g0207 a0001c0001t0020g0205 a0001c0001t0022g0197 a0001c0001t0023g0147 a0001c0001t0024g0190 a0001c0001t0025g0195 a0001c0001t0026g0227 a0001c0001t0028g0182 a0001c0001t0029g0179 a0001c0001t0042g0210	66	252	0.2619	225	c.139 others(244): Show c.139-18380_139-18379insCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCA TCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844105	G G	GACCCCCC others(218): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00609.hp1 others(73): Show HG00323.hp1 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02698.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG04115.hp1 HG04228.hp2 NA18939.hp2 NA18943.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp1 NA18968.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0003c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0028 others(73): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0003g0041 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0113 a0001c0001t0010g0005 a0001c0001t0017g0093 a0001c0001t0017g0140 a0001c0001t0045g0144 a0001c0001t0046g0089 a0001c0001t0047g0090 a0001c0001t0048g0098 a0001c0001t0049g0030 a0001c0001t0051g0073 a0001c0001t0052g0149 a0001c0001t0053g0040 a0001c0001t0054g0074 a0001c0001t0057g0046 a0001c0001t0058g0079 a0003c0004t0001g0059 a0003c0004t0001g0063	76	252	0.3016	225	c.139 others(244): Show c.139-18380_139-18379insCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844105	G G	GACCCCCC others(218): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGTGGAGGGCTCATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 homoSapiens_chm13v2.hp1 HG01169.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0139 a0001c0001t0001g0086 a0001c0001t0001g0139	2	252	0.0079	225	c.139 others(244): Show c.139-18380_139-18379insCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTCA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75481830	T T	TGGGGGGT others(218): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG00642.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0075 a0001c0001t0010g0002 a0001c0001t0001g0075 a0001c0001t0010g0002	2	326	0.0061	225	c.106 others(244): Show c.1063-1917_1063-1916insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(218): Show TCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTC TCCCCTCCTCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCCTCCCCTC CCCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0083 a0001c0001t0007g0083	1	94	0.0106	225	c.191 others(246): Show c.191-103928_191-103927insCCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTC CTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCC CTCCCCTCTCCCCTCCTCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCC CTCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTC C	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	504397	C C	CCCTTGCC others(218): Show CCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCCTTGCCTCCTGTACCCCCTCACC TCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCACCCC CCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGT ACCCCCCTCACCTCCTCCTGTACCCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0148 a0001c0001t0008g0148	1	295	0.0034	225	c.139 others(244): Show c.1396-1124_1396-1123insTGCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTT GCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCC CTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(218): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCAC CATCCCCACCAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGC CCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	330	0.0030	225	c.397 others(238): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGT GGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCC TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985782	C C	CCCCACCA others(218): Show CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG CCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCAC CAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGC CTACCAGGCCCACCATCCCCATCAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG02080.hp1 others(3): Show HG00408.hp1 HG00673.hp2 HG02080.hp1 HG02083.hp2 NA18939.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0143 a0001c0001t0002g0172 others(3): Show a0001c0001t0002g0112 a0001c0001t0002g0143 a0001c0001t0002g0172 a0001c0001t0002g0191 a0001c0001t0002g0224 a0001c0001t0002g0226	6	330	0.0182	225	c.397 others(240): Show c.397-118_397-117insCCTGATGGGGATGGTGGGCCTGGTAGGCCT GGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGG GCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGATGGGGATGGTGGGCCTG GTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG CCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(218): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCAT CCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCC CCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18965.hp2 HG02074.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0002g0160 a0001c0001t0001g0176 a0001c0001t0002g0160	2	452	0.0044	225	c.757 others(240): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCC GTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATC TCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(218): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCATCCCCCGTCCCCCGTCCCCATCCCCCAT CCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCC CCCATCCCCCGTCCCCATCCCCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG03195.hp1 others(3): Show HG02486.hp2 HG02647.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0264 a0001c0001t0001g0303 a0001c0001t0008g0260 others(3): Show a0001c0001t0001g0264 a0001c0001t0001g0303 a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0008g0302	6	452	0.0133	225	c.757 others(240): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCATCCCCCGTCCCCC GTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATC TCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCTCCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420669	A A	ACCCCATC others(218): Show ACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCC CCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCC ATCCCATCCCCCACCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCC CATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCA TCCCCCGTCCCCATCCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	452	0.0022	225	c.757 others(240): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCATCCCCCGTCCCCC GTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATC TCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCTCCCCCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11			chr20	TogoVar
RIMBP2_chr12_130391133_130721299	130483685	A A	AGTGCCCG others(218): Show AGTGCCCGGAGCCCCCATCCCTCACCTACACACAGTGCCCGGAGCCCCCG TCCCCACCTAGATACGGTGCCCGGAGCCCCGACCCTCACCTACACACAGT GCCCGGAGCCCCCGTCCCCACCTAGATACGGTGCCCGGAGCCCCGACCCT CACCTACACACAGTGCCCAGAGCCCCCACCCTCACCTACACACAGTGCCC GGAGCCCCCGTCCCCACCTAGATACG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03486.hp1 HG02486.hp1 HG02622.hp2 HG03486.hp1	a0004 a0005 a0010 a0004 a0005 a0010	a0004c0041 a0005c0013 a0010c0051 a0004c0041 a0005c0013 a0010c0051	a0004c0041t0003 a0005c0013t0003 a0010c0051t0003 a0004c0041t0003 a0005c0013t0003 a0010c0051t0003	a0004c0041t0003g0068 a0005c0013t0003g0175 a0010c0051t0003g0093 a0004c0041t0003g0068 a0005c0013t0003g0175 a0010c0051t0003g0093	3	180	0.0167	225	c.-3- others(240): Show c.-3-4670_-3-4669insCGTATCTAGGTGGGGACGGGGGCTCCGGGC ACTGTGTGTAGGTGAGGGTGGGGGCTCTGGGCACTGTGTGTAGGTGAGGG TCGGGGCTCCGGGCACCGTATCTAGGTGGGGACGGGGGCTCCGGGCACTG TGTGTAGGTGAGGGTCGGGGCTCCGGGCACCGTATCTAGGTGGGGACGGG GGCTCCGGGCACTGTGTGTAGGTGAGGGATGGGGGCTCCGGGCAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RNASE10_chr14_20500537_20518884	20506555	C C	CGCCCCTA others(218): Show CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGGCCCCCGCCCGGCCAGCCGCCCTATCCAG GAGGTGAGGGGCGCCTCTGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 NA18906.hp2 others(1): Show HG02922.hp2 HG03139.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 others(1): Show a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0002c0002t0047	a0001c0001t0045g0085 a0001c0001t0046g0180 a0001c0001t0049g0181 others(1): Show a0001c0001t0045g0085 a0001c0001t0046g0180 a0001c0001t0049g0181 a0002c0002t0047g0178	4	396	0.0101	225	c.-6+ others(238): Show c.-6+617_-6+618insCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGGCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGC CTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	220804	A A	ACCCAAGC others(218): Show ACCCAAGCACAACAGCTCGGAGGCCTCCACTCGGTGAGACAATAGACCCA AGAACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCAC AACAGCTCTGAGGCCTCCACTCACTGAGAAAATAGACCCAAAAACAACAG CTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTG AGGGCTCCACTCACTGAGACAATAGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0020 a0003c0012t0005g0020	1	133	0.0075	225	c.614 others(242): Show c.614-1069_614-1068insCCTATTGTCTCAGTGAGTGGAGCCCTCA GAGCTGTTGTTCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCT GTTGTTTTTGGGTCTATTTTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGT GCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTTCTTG GGTCTATTGTCTCACCGAGTGGAGGCCTCCGAGCTGTTGTGCTTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	221355	A A	ACAGCTCT others(218): Show ACAGCTCTGAGGCCGCCACTCACTGAGACAATAGACCCAAGCACAACAGC TCTGAGGCCGCCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGA GGCCTCCACTCGGTGAGACAATAGACCCAAGCACATCAGCTCTGAGGGCT CCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGGCTCCACT CACTGAGACAATAGACCCAAGTGCAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02148.hp2 HG03831.hp1 HG01361.hp2 HG02148.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0030 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0001g0030 a0001c0001t0013g0055 a0001c0001t0013g0107	3	133	0.0226	225	c.614 others(242): Show c.614-1620_614-1619insATGCACTTGGGTCTATTGTCTCAGTGAG TGGAGCCCTCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAG CCCTCAGAGCTGATGTGCTTGGGTCTATTGTCTCACCGAGTGGAGGCCTC AGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGCGGCCTCAGAGC TGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGCGGCCTCAGAGCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242867	C C	CCCTTCCT others(218): Show CCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTG ATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCT ATTGATTACCCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03831.hp1 NA18995.hp2 others(1): Show HG02074.hp2 HG03831.hp1 NA18995.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0008t0001	a0001c0001t0001g0030 a0001c0001t0002g0029 a0001c0001t0014g0025 others(1): Show a0001c0001t0001g0030 a0001c0001t0002g0029 a0001c0001t0014g0025 a0001c0008t0001g0044	4	133	0.0301	225	c.613 others(242): Show c.613+4243_613+4244insTAGTCAATAGAGGAAGGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693462	T T	TTCACCAC others(218): Show TTCACCACCACCACCTCCACCACCACCACCACCTCCACCACCTCCACCTC CACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCT CCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCTCC ACCACGTCCACCACCTCCACCACCACCTCCACCACCACCACCACCTCCAC CTCCACCTCCACCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0025 a0012c0021t0001g0025	1	60	0.0167	225	c.299 others(242): Show c.2992+179_2992+180insTCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCT CCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACC TCCACCTCCACCTCCACCTCCACCACGTCCACCACCTCCACCACCACCTC CACCACCACCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCA	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34			chr20	TogoVar
SAMD11_chr1_918923_949574	934545	A A	AGTCGGCT others(218): Show AGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTC CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTCCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0243 a0002c0003t0004g0243	1	434	0.0023	225	c.843 others(242): Show c.843-1226_843-1225insTCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAG GTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934959	C C	CGGGGGGG others(218): Show CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGGGC GGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTGTGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0227 a0002c0018t0004g0227	1	434	0.0023	225	c.843 others(240): Show c.843-810_843-809insGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCAGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTGTGTTACAGGTGGGCGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280396	C C	CGTCCCTT others(218): Show CGTCCCTTCCCCTCACCCATCCTCCTGTCCCTTCCCCTCACCCATCCCCC TGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCTGC TGTCCCTTCCCCTCACCCATCCTCCTGTCCCTTCCCCTCACCCATCCCCC TGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCTGC TGTCCCTTCCCCTCACCCATCCTGCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0072 a0004c0048t0072	a0004c0048t0072g0247 a0004c0048t0072g0247	1	280	0.0036	225	c.484 others(244): Show c.484+10649_484+10650insAGCAGGATGGGTGAGGGGAAGGGACA GCAGGATGGGTGAGGGGAAGGGACAGGGGGATGGGTGAGGGGAAGGGACA GGGGGATGGGTGAGGGGAAGGGACAGGAGGATGGGTGAGGGGAAGGGACA GCAGGATGGGTGAGGGGAAGGGACAGGGGGATGGGTGAGGGGAAGGGACA GGGGGATGGGTGAGGGGAAGGGACAGGAGGATGGGTGAGGGGAAGGGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13848511	G G	GGAAGAAG others(218): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0014 a0002c0002t0004g0014	1	324	0.0031	225	c.97 others(234): Show c.973_*974insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TCCTGCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		735		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(218): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAGGAAGAAGAAGA AGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0282 a0002c0002t0003g0282	1	324	0.0031	225	c.92 others(234): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTT CCTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CCTATATA others(218): Show CCTATATATATATTCCCTATATATATATTCCATATATATATATTCCATAT ATATATTCCATATATATATATTCCATATATATATATTTCATATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATATATATA TTCCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	324	0.0031	225	c.115 others(242): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAG	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(218): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGAGGGGG AGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA GGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAG GGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAG CGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	370	0.0027	225	c.-30 others(244): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCCTCCCCTCGCTCTCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(218): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0168 a0001c0007t0001g0168	1	370	0.0027	225	c.-30 others(244): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCCTC GCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCC CCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCC CTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGC TCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(218): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA GAGGGTGGACAGGGTGGACAGGGTGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0041 a0002c0021t0001g0041	1	376	0.0027	225	c.101 others(244): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(218): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0311 a0002c0002t0025g0311	1	376	0.0027	225	c.101 others(244): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(218): Show TAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGAG AGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	376	0.0027	225	c.101 others(244): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGTTAGGGTG GATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431985	T T	TAGGGTGG others(218): Show TAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGGTAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0225 a0002c0006t0008g0225	1	376	0.0027	225	c.101 others(242): Show c.1014-975_1014-974insTTAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGGTAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739156	C C	CGCCGGAC others(218): Show CGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGTGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCGGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCGGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0194 a0001c0001t0017g0194	1	445	0.0023	225	c.-37 others(236): Show c.-3757_-3756insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGTGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCGG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3714		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739649	A A	AGCCGGAC others(218): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	445	0.0023	225	c.-32 others(236): Show c.-3264_-3263insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3221		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740423	G G	GTGAGGGT others(218): Show GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGCAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCT GATGCAGGGAGTGAGGAGCCGGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA20905.hp2 HG03041.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0032 a0001c0001t0002g0002 a0001c0001t0002g0032	2	445	0.0045	225	c.-24 others(236): Show c.-2490_-2489insTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGCAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2447		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740423	G G	GTGAGGGT others(218): Show GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCT GATGCAGGGAGTGAGGAGCCGGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00639.hp1 others(40): Show HG00323.hp2 HG00438.hp1 HG00639.hp1 HG00642.hp1 HG01070.hp2 HG01168.hp1 HG01168.hp2 HG01257.hp2 HG01358.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03688.hp2 HG03942.hp1 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19010.hp1 NA19012.hp2 NA19060.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0005 a0006c0008 others(1): Show a0001c0001 a0001c0005 a0006c0008 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0005t0002 a0001c0005t0003 a0006c0008t0002 a0008c0010t0001	a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 others(22): Show a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0166 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0173 a0001c0001t0005g0164 a0001c0001t0014g0016 a0001c0005t0002g0010 a0001c0005t0003g0010 a0006c0008t0002g0181 a0008c0010t0001g0002	43	445	0.0966	225	c.-24 others(236): Show c.-2490_-2489insTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2447		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740541	G G	GAGTGAGG others(218): Show GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAG CCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAAGGGGCCTGATGCAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01169.hp1 HG01261.hp1 others(20): Show HG00642.hp2 HG01169.hp1 HG01261.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG03831.hp1 HG03927.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18964.hp2 NA18991.hp1 NA19011.hp1 NA19063.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 a0001c0001 a0001c0005 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0005t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0005t0002 a0001c0005t0003 a0001c0011t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0019 others(14): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0056 a0001c0001t0003g0165 a0001c0001t0003g0174 a0001c0005t0002g0010 a0001c0005t0002g0171 a0001c0005t0003g0010 a0001c0011t0002g0011	23	445	0.0517	225	c.-23 others(236): Show c.-2372_-2371insAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGAT GCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGAA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2329		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1741407	A A	AGGACAGT others(218): Show AGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTG GGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	445	0.0023	225	c.-15 others(236): Show c.-1506_-1505insGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCT	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		1463		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1741743	G G	GGCCTGAT others(218): Show GGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	445	0.0023	225	c.-11 others(236): Show c.-1170_-1169insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGTAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		1127		chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(218): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATGAAAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0031 a0031	a0031c0036 a0031c0036	a0031c0036t0002 a0031c0036t0002	a0031c0036t0002g0120 a0031c0036t0002g0120	1	256	0.0039	225	c.165 others(242): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATGAAAAAAGAAAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(218): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT GGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTCT ACGTGTATGTATACACATATATACATAGAATATATATACTATGTGTATAT ATATACACGTAGAATATATATACTATGTGTATATATACGTAGAATATATA TACTATGTGTACATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0165 a0001c0001t0045g0165	1	182	0.0055	225	c.174 others(244): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATGGTATATATATTCTACGTGTGTATATATATACACA TAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATAT ATACTATGTGTATATATATACACGTAGAATATATATACTATGTGTATATA TACGTAGAATATATATACTATGTGTACATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(218): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT GGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTCT ACGTGTATGTATACACATATATACATAGAATATATATACTATGTGTATAT ATATATACGTAGAATATATATACTATGTGTATATATACGTAGAATATATA TACTATGTGTACATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	182	0.0055	225	c.174 others(244): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATGGTATATATATTCTACGTGTGTATATATATACACA TAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATAT ATACTATGTGTATATATATATACGTAGAATATATATACTATGTGTATATA TACGTAGAATATATATACTATGTGTACATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC6A18_chr5_1220381_1251189	1238449	T T	TTGGGGCC others(218): Show TTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAG GAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGG TTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGC CTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAG GAAAGAGGTCAGGTTTGGAGTGGGCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0233 a0006c0008t0004g0233	1	456	0.0022	225	c.732 others(240): Show c.732+464_732+465insTGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGAG GACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGA GGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238449	T T	TTGGGGCC others(218): Show TTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAG GAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGG TTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGC CTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAG GAAAGAGGTCAGGTTTGGAGTGGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01074.hp1 HG00280.hp2 HG01070.hp1 HG01074.hp1	a0001 a0015 a0001 a0015	a0001c0009 a0015c0024 a0001c0009 a0015c0024	a0001c0009t0002 a0015c0024t0002 a0001c0009t0002 a0015c0024t0002	a0001c0009t0002g0139 a0015c0024t0002g0011 a0001c0009t0002g0139 a0015c0024t0002g0011	3	456	0.0066	225	c.732 others(240): Show c.732+464_732+465insTGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAG GACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGA GGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238468	G G	GTCAGGTT others(218): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG01257.hp1 others(2): Show HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0004 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0001g0004 a0001c0002t0002g0055 a0001c0002t0002g0056	5	456	0.0110	225	c.732 others(240): Show c.732+464_732+465insTGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238468	G G	GTCAGGTT others(218): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0342 a0001c0002t0001g0342	1	456	0.0022	225	c.732 others(240): Show c.732+464_732+465insTGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(218): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTTCTCTCTCTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	410	0.0024	225	c.152 others(242): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAAAGAGAGAAAGAGAGAAGAGAGAGAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLCO3A1_chr15_91848708_92170903	92047029	T T	TATATATA others(218): Show TATATATATAAATATATATATAATATATAAATATATATATATAAATATAT ATATATAAATATATATATAATATATAAATATATATATATAAATATATATA ATATATAAATATATATATAAATATATAATATATAAATATATATACAAATA TATATATAATATATAAATATATACAAATATATATATAATATATAAATATA TATACAAATATATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	190	0.0053	225	c.647 others(244): Show c.647-47843_647-47842insAATATATATATAATATATAAATATAT ATATATAAATATATATATATAAATATATATATAATATATAAATATATATA TATAAATATATATAATATATAAATATATATATAAATATATAATATATAAA TATATATACAAATATATATATAATATATAAATATATACAAATATATATAT AATATATAAATATATATACAAATATATATATAATATATAAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMYD3_chr1_245744347_246512279	246024406	A A	AGAGAGAT others(218): Show AGAGAGATACAGCAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTG GACAGCATCTAGGAAGACAGATACAGCAAGTGGACAGCATCTAGGAAGGA AGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGGAAGTGGACA GCATCTAGGAAGAGAGATACAGCAAGTGGACAGCATCTAGGAAGACAGAT ACAGCAAGTGGACAGCATCTAGGAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01981.hp1 HG02258.hp2 others(8): Show HG01952.hp1 HG01981.hp1 HG02258.hp2 HG02273.hp2 HG02615.hp1 HG02647.hp1 HG02922.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0002t0001g0015 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0002t0001g0015 a0001c0002t0001g0056 a0002c0003t0001g0141 a0002c0003t0002g0130 a0002c0004t0001g0107 a0002c0004t0001g0127 a0002c0004t0001g0129 a0002c0005t0001g0142 a0002c0005t0002g0115	11	150	0.0733	225	c.532 others(244): Show c.532-94470_532-94469insCTTCCTAGATGCTGTCCACTTGCTGT ATCTGTCTTCCTAGATGCTGTCCACTTGCTGTATCTCTCTTCCTAGATGC TGTCCACTTCCTGTATCTGTCTTCCTAGATGCTGTCCACTTCCTGTATCT TCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGATGCTGTC CACTTGCTGTATCTGTTTTCCTAGATGCTGTCCACTTGCTGTATCTCTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024565	A A	AGACAGAT others(218): Show AGACAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGATACAGCAAGTG GACAGCATCTAGGAAGACAGATACAGCAAGTGGACAGCATCTAGGAAGGG AGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGCAAGTGGACA GCATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGAT ACAGGAAGTGGACAGCATCTAGGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG01975.hp2 others(14): Show HG00408.hp1 HG00733.hp1 HG01975.hp2 HG02027.hp2 HG02071.hp1 HG02145.hp1 HG02280.hp2 HG02895.hp2 HG02970.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp1 NA18962.hp1 NA18963.hp2 NA19000.hp1 NA19057.hp1 NA19088.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0004c0013t0002	a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0086 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0064 a0001c0006t0003g0001 a0002c0003t0001g0148 a0002c0003t0002g0116 a0002c0004t0001g0121 a0002c0005t0001g0138 a0002c0005t0001g0146 a0004c0013t0002g0072	17	150	0.1133	225	c.532 others(244): Show c.532-94629_532-94628insCTTCCTAGATGCTGTCCACTTCCTGT ATCTCTCTTCCTAGATGCTGTCCACTTCCTGTATCTTCCTTCCTAGATGC TGTCCACTTGCTGTATCTGTCTTCCTAGATGCTGTCCACTTCCTGTATCT CCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGATGCTGTC CACTTGCTGTATCTCTCTTCCTAGATGCTGTCCACTTCCTGTATCTGTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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