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
AXIN1_chr16_282440_357723	285909	C C	CCCAACCC others(207): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	378	0.0027	214	c.22 others(225): Show c.2212_*2213insTGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGG TTGGGGTTGGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGG GGTTGGGGTTGGGGTTGGGGTTGGGGTTGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1530		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	82968453	C C	CAGTAACC others(207): Show CAGTAACCAGTGTGCACGGTGCACAGATGTCTGTCGGCAACAGGGAAGGG AGGCCAGTCACCAGTGTGCACGGTGCACAGATGTCTGTCGGCAACAGGGA AGGGAGGCCAGTCACCAGTGTGCACGGTGCACAGATGTCTGTCGGCAACA GGGAAGGGAGGCCAGTCACCAGTGTGCACGGTGCACAGATGTCTGTCGGC AACAGGGAAGGGAGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	266	0.0038	214	c.460 others(231): Show c.460-2708_460-2707insCCTCCCTTCCCTGTTGCCGACAGACATC TGTGCACCGTGCACACTGGTGACTGGCCTCCCTTCCCTGTTGCCGACAGA CATCTGTGCACCGTGCACACTGGTGACTGGCCTCCCTTCCCTGTTGCCGA CAGACATCTGTGCACCGTGCACACTGGTGACTGGCCTCCCTTCCCTGTTG CCGACAGACATCTGTGCACCGTGCACACTGGTTACT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82968453	C C	CAGTAACC others(207): Show CAGTAACCAGTGTGCATGGTGCACAGATGTCTGTCGGCAACAGGGAAGGG AGGCCAGTCACCAGTGTGCACGGTGCACAGATGTCTGTCGGCAACAGGGA AGGGAGGCCAGTCACCAGTGTGCACGGTGCACAGATGTCTGTCGGCAACA GGGAAGGGAGGCCAGTCACCAGTGTGCACGGTGCACAGATGTCTGTCGGC AACAGGGAAGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(61): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01346.hp1 HG01361.hp2 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02293.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18983.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp1 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005 a0002c0009 a0005c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0002t0002 a0001c0002t0008 a0001c0002t0025 a0001c0002t0028 a0001c0003t0004 a0001c0003t0021 a0001c0006t0002 a0001c0006t0008 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0005c0028t0002	a0001c0001t0001g0061 a0001c0001t0001g0179 a0001c0001t0002g0064 others(61): Show a0001c0001t0001g0061 a0001c0001t0001g0179 a0001c0001t0002g0064 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0004g0227 a0001c0001t0004g0237 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0006g0157 a0001c0001t0022g0230 a0001c0001t0022g0239 a0001c0002t0002g0065 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0008g0069 a0001c0002t0008g0091 a0001c0002t0008g0092 a0001c0002t0008g0099 a0001c0002t0008g0100 a0001c0002t0008g0101 a0001c0002t0008g0102 a0001c0002t0008g0108 a0001c0002t0008g0111 a0001c0002t0008g0123 a0001c0002t0025g0098 a0001c0002t0028g0120 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0003t0021g0219 a0001c0006t0002g0024 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0008g0020 a0002c0005t0003g0053 a0002c0005t0003g0180 a0002c0005t0007g0228 a0002c0009t0003g0078 a0002c0009t0013g0066 a0002c0009t0013g0087 a0005c0028t0002g0106	64	266	0.2406	214	c.460 others(231): Show c.460-2708_460-2707insCCTCCCTTCCCTGTTGCCGACAGACATC TGTGCACCGTGCACACTGGTGACTGGCCTCCCTTCCCTGTTGCCGACAGA CATCTGTGCACCGTGCACACTGGTGACTGGCCTCCCTTCCCTGTTGCCGA CAGACATCTGTGCACCGTGCACACTGGTGACTGGCCTCCCTTCCCTGTTG CCGACAGACATCTGTGCACCATGCACACTGGTTACT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003596	G G	GTCCGCGT others(207): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCGCGTGTGGGATTCCTGAG CCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACT CTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCGCGTGTGGGAT TCCTGAGCCCGCCCTCCCGCCCTCCGCAGTCCGCGTGTGGGATTCCTGAG CCCGCCCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0027 a0001c0006t0011g0027	1	266	0.0038	214	c.459 others(231): Show c.459+1518_459+1519insGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGACTGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGG AGGGCGGGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGGGAGGGCGG GCTCAGGAATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGAGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(207): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGA GAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGG GGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	298	0.0034	214	c.51+ others(227): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCATCCCCATCCCCCCTCTCCTTCCCCCTCCCC CTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(207): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGG GAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGG TGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0290 a0001c0003t0003g0290	1	298	0.0034	214	c.51+ others(227): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATC CCCATCCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCT CCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BOC_chr3_113206557_113292459	113236264	G G	GTATATAT others(207): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATACCCATGG GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	386	0.0026	214	c.-81 others(233): Show c.-81-13457_-81-13456insATATATACCCATGGGTATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATATACCCATGGGTATATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BPHL_chr6_3113711_3158578	3146558	G G	GGAGTGCT others(207): Show GGAGTGCTGGTTCGGGGTGGAGTGCTGGTTTGGGTCGAGTGCTGGTTTGG GTCGGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCCAGCTGGAGTGCTGGT TTGGGTCGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGGTGGAGTGC TGGTTCGGGGTGGAGTGCTGGTTTGGGTTTGAATGCTGGTACGGGGTGGA GTGCTGGTTCGGGTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(110): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18941.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0005c0009 a0007c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0002t0003 a0001c0002t0014 a0001c0004t0006 a0001c0005t0005 a0001c0008t0001 a0005c0009t0005 a0007c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(90): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0242 a0001c0001t0005g0047 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0265 a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0104 a0001c0001t0007g0176 a0001c0001t0008g0132 a0001c0001t0009g0037 a0001c0001t0012g0056 a0001c0002t0003g0253 a0001c0002t0014g0250 a0001c0004t0006g0016 a0001c0004t0006g0041 a0001c0004t0006g0244 a0001c0004t0006g0246 a0001c0005t0005g0019 a0001c0005t0005g0046 a0001c0005t0005g0048 a0001c0005t0005g0226 a0001c0008t0001g0224 a0001c0008t0001g0225 a0001c0008t0001g0227 a0005c0009t0005g0261 a0005c0009t0005g0264 a0007c0010t0001g0180	113	350	0.3229	214	c.789 others(231): Show c.789-5929_789-5928insAGTGCTGGTTCGGGGTGGAGTGCTGGTT TGGGTCGAGTGCTGGTTTGGGTCGGAGTGCTGGTTCGGGTTGGAGTGCTG GTTCCAGCTGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGTCGGAGT GCTGGTTTGGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTTTGGGTTT GAATGCTGGTACGGGGTGGAGTGCTGGTTCGGGTTG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCCG others(207): Show CCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCCCC GCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCCCCCTCGCCGAACC ATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGACCAACCCCGCCCCC CTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCCCCGCAGCTGTGTG AGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	258	0.0039	214	c.323 others(229): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGCGGGGGGGATC TGAGGAGGCTCACACAGCTGCGGGGGGCGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
C11orf21_chr11_2290628_2306918	2291921	T T	TCAGAGGC others(207): Show TCAGAGGCGTGCCTCCCTCAGCACCCCCAAAAACAACTCCCCGCTTTAGT ATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCGC TTCAGTATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACT CCCCGCTTTATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAAC TCCCCACTTTATTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02451.hp2 HG02818.hp2 others(1): Show HG00741.hp1 HG02451.hp2 HG02818.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0086 a0003c0004t0002g0024 a0001c0001t0002g0002 a0001c0001t0002g0086 a0003c0004t0002g0024	4	426	0.0094	214	c.60 others(225): Show c.6028_*6029insCGAATAAAGTGGGGAGTTGTTTTTGGGGGTGCTG CGGGTGGCACGCCTCTGTGAATAAAGCGGGGAGTTGTTTTTGGGGGTGCT GCGGGTGGCACGCCTCTGTGAATATACTGAAGCGGGGAGTTGTTTTTGGG GGTGCTGCGGGTGGCACGCCTCTGTGAATATACTAAAGCGGGGAGTTGTT TTTGGGGGTGCTGAGGGAGGCACGCCTCTG	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		3706		chr11	TogoVar
C20orf96_chr20_265863_295750	279065	A A	AGGGCGGG others(207): Show AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGC GGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGG GAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGAT GGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA20905.hp1 HG00544.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0367 a0001c0001t0001g0066 a0001c0001t0001g0367	2	410	0.0049	214	c.465 others(229): Show c.465+106_465+107insGCCCTCCCTCCCTCCATCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC GCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTC CGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C3_chr19_6672704_6725650	6694196	G G	GGGATGGG others(207): Show GGGATGGGAATGGCCTTGAGGAGAGGCGGGGTCTCATTAAGAGCCTGGCC TGGGAGGAGGCAGGGCCTCAGAGGGCGTGGCCTTGAGAAGAGGTGGGGGG CCCTCAGGGGATGGGCATGGCCTTGAGGAGAGGCGGGGTCTCATTAAGAG CCTGGCCTGGGAGGAGTCAGGGCCTCAGAGGGCGTGGCCTTGAGAAGAGG TGGGGGGCCCTCAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp2 HG03927.hp1 others(8): Show HG00673.hp2 HG02071.hp2 HG03927.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA19005.hp1 NA19010.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0001c0008 a0001c0014 others(2): Show a0001c0001 a0001c0008 a0001c0014 a0001c0032 a0019c0061	a0001c0001t0001 a0001c0008t0002 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0008t0002 a0001c0014t0001 a0001c0032t0001 a0019c0061t0001	a0001c0001t0001g0007 a0001c0001t0001g0142 a0001c0001t0001g0330 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0142 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0008t0002g0083 a0001c0008t0002g0325 a0001c0008t0002g0327 a0001c0014t0001g0105 a0001c0032t0001g0199 a0019c0061t0001g0324	11	370	0.0297	214	c.315 others(231): Show c.3154+234_3154+235insTCTGAGGGCCCCCCACCTCTTCTCAAGG CCACGCCCTCTGAGGCCCTGACTCCTCCCAGGCCAGGCTCTTAATGAGAC CCCGCCTCTCCTCAAGGCCATGCCCATCCCCTGAGGGCCCCCCACCTCTT CTCAAGGCCACGCCCTCTGAGGCCCTGCCTCCTCCCAGGCCAGGCTCTTA ATGAGACCCCGCCTCTCCTCAAGGCCATTCCCATCC	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	24/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1128053	G G	GCTGGAGT others(207): Show GCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACTGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCTGGAGTGCAGTGGC GCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAA TCTCGGCTCATCCCACTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCTCACCGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	326	0.0031	214	c.-1- others(227): Show c.-1-668_-1-667insACGGTGAGATGAGCCGAGATGGCGCCACTGCA CTCCAGCCCGGGTGACAGTGGGATGAGCCGAGATTGTGCCACTGCACTCC AGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGAC GGTGAGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACAGTG GGATGAGCCGAGATTGTGCCACTGCACTCCAG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8A_chr1_56849797_56923223	56885370	T T	TTATATTT others(207): Show TTATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATAT ATATTTACATAAATATATATTTATTTAAATATATATTTACATAAATATAT ATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATATATAT TTATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATAT ATATTTACATAAATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	366	0.0027	214	c.856 others(229): Show c.856-533_856-532insCATAAATATATATTTATTTAAATATATATT TACATAAATATATATTTATTTAAATATATATTTACATAAATATATATTTA TTTAAATATATATTTACATAAATATATATTTATTTAAATATATATTTATA TTTATTTAAATATATATTTACATAAATATATATTTATTTAAATATATATT TACATAAATATATATTTATTTAAATATATATTTA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNG7_chr19_53904278_53948950	53921620	C C	CATTGGTG others(207): Show CATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCT GGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGTCCCCA GGCCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTG TCCCAGGCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGT TGCCCCAGGTCTGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03579.hp1 HG01109.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0069 a0001c0001t0001g0072	2	364	0.0055	214	c.424 others(231): Show c.424+6124_424+6125insCTTGCCCCAGGTCTGGTCATTGGTGGAG CTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTG GAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCA TTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCAGGCTGGT CATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP2_chr1_200733893_200865704	200816873	C C	CACACACG others(207): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	366	0.0027	214	c.645 others(231): Show c.645+1235_645+1236insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816899	C C	CACACACG others(207): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18982.hp2 NA19078.hp1 HG00621.hp2 NA18982.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0063 a0001c0001t0003g0083 a0001c0001t0003g0050 a0001c0001t0003g0063 a0001c0001t0003g0083	3	366	0.0082	214	c.645 others(231): Show c.645+1261_645+1262insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816899	C C	CACACGCG others(207): Show CACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACA CACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACA CGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACG CGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCG CGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	366	0.0027	214	c.645 others(231): Show c.645+1259_645+1260insGCGCGCGTGTATGTGTGTACACACGCGC GCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGC GTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGT GTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGT ATGTGTGTACACACGCGCGCGTGTATGTGTGTACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181574	C C	CCACACTC others(207): Show CCACACTCACACATACACACTCACATACAGACACAACCACACCCACACAC ACACACACTCACATACAGACACAACCACACCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACACA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0384 a0002c0002t0001g0384	1	460	0.0022	214	c.193 others(231): Show c.1938+259_1938+260insTCACACATACACACTCACATACAGACAC AACCACACCCACACACACACACACTCACATACAGACACAACCACACCACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(207): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGAAGGGGAAG GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGAGGG AGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	364	0.0028	214	c.234 others(231): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTC CCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(207): Show AAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGGAAGGGGAGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	364	0.0028	214	c.234 others(231): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGGG others(207): Show AAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGA AGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0125 a0001c0001t0021g0125	1	364	0.0028	214	c.234 others(231): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(207): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCC CTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCT TTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	410	0.0024	214	c.-22 others(225): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(207): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCC CTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCT TTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA18984.hp1 HG03834.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0154 a0001c0001t0003g0018 a0001c0001t0003g0154	2	410	0.0049	214	c.-22 others(225): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC77_chr12_396644_447642	419486	T T	TTCCATTA others(207): Show TTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGGGTAAAATACAC ATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAG CAGCACACTCCATGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0389 a0002c0002t0001g0389	1	432	0.0023	214	c.413 others(229): Show c.413+863_413+864insTCTTCTGTGTGTGCTGGGAGTGAGGGTAAA ATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACAC ACATAGCAGCACACTCCATGCTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(207): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	442	0.0023	214	c.27 others(225): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(207): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0004g0005 a0001c0001t0001g0015 a0001c0001t0004g0005	2	442	0.0045	214	c.27 others(225): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(207): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	442	0.0023	214	c.27 others(225): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(207): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	442	0.0023	214	c.27 others(225): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH8_chr16_61642250_62041438	61960089	G G	GTGCGTGC others(207): Show GTGCGTGCGTACACATACATACATACATATATGTGCGTGCGTACACATAC ATACATACATATATGTGCGTGCGTACACATACATACATACATATATGTGC GTGCGTACACATACATACATACATATGTGCGTGCGTACACATACATATAT ACATATGTGTGTGCGTACACATACATATATACATATGTGTGTGCGTACAC ATACATATATACATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0011 a0001c0001t0034g0011	1	168	0.0060	214	c.253 others(233): Show c.253-58617_253-58616insTATGTATATATGTATGTGTACGCACA CACATATGTATATATGTATGTGTACGCACACACATATGTATATATGTATG TGTACGCACGCACATATGTATGTATGTATGTGTACGCACGCACATATATG TATGTATGTATGTGTACGCACGCACATATATGTATGTATGTATGTGTACG CACGCACATATATGTATGTATGTATGTGTACGCACGCA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDK14_chr7_90591321_91215590	91027847	C C	CCCTCTCC others(207): Show CCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTC CTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTC TCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCC CCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp2 HG03225.hp1 others(1): Show HG02895.hp2 HG03209.hp2 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0026	a0001c0001t0005g0076 a0001c0001t0006g0006 a0001c0001t0008g0078 others(1): Show a0001c0001t0005g0076 a0001c0001t0006g0006 a0001c0001t0008g0078 a0001c0001t0026g0077	4	168	0.0238	214	c.104 others(235): Show c.1042-18006_1042-18005insCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLEC10A_chr17_7069537_7085251	7077290	A A	ATTCCCAT others(207): Show ATTCCCATCAATCACTCCATCAGTGCCCCCTCACCATTCCCATCAATCAC TCCATCAGTGTCCCCATCACCGTTCCCGTCAATCACTCCATCAGTGCCCC CGTCACCATTTCCATCAATCACTCCATCAGTGCCCCCATCACCGTTCCCA TCAATCACTCCATCAGTGCCCCCCCACCATTCCCATCAATCACTCCATCA GTGCTCCCACCACCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA18906.hp1 HG03209.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0079 a0001c0004t0001g0037 a0001c0004t0001g0079	3	458	0.0066	214	c.185 others(229): Show c.185-304_185-303insCGGTGGTGGGAGCACTGATGGAGTGATTGA TGGGAATGGTGGGGGGGCACTGATGGAGTGATTGATGGGAACGGTGATGG GGGCACTGATGGAGTGATTGATGGAAATGGTGACGGGGGCACTGATGGAG TGATTGACGGGAACGGTGATGGGGACACTGATGGAGTGATTGATGGGAAT GGTGAGGGGGCACTGATGGAGTGATTGATGGGAA	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
CLOCK_chr4_55422903_55551909	55530612	T T	TAAAAATA others(207): Show TAAAAATACAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	338	0.0030	214	c.-29 others(235): Show c.-290+16169_-290+16170insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACGACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTTT	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	1/22			chr4	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAGAAAG others(207): Show GAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAGAAGAAAGAAAGA AGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGAAGGAAAGAA GGAAGGAAGGAAAGAAAGAAAGAAGAAGAAGAAAGAAGGAAAGAAAGAAA GAAAGAAAGAAAGAAGAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAGGG AAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0153 a0003c0003t0023g0153	1	268	0.0037	214	c.-46 others(233): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTCTTTCTTTTCTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTCTTTCTTCTTCTTCTTTCTTTCTTTCCTTCCTTCCTTCTTTCCTTC TTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCT TCTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	146535141	T T	TATTATAT others(207): Show TATTATATATATATAATATATATATTATATATATTATATATAATATATAT GTTATATATTATATATATTATATATTATATATATTATATATAATATATAT GTTATATATTATATATATTATATATTATATATATGTTATATATTATATAT ATTATATATAATATATATAATATATAACATATATATTATATAACATATAT ATTATATATATAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0015 a0002c0017t0015	a0002c0017t0015g0037 a0002c0017t0015g0037	1	40	0.0250	214	c.98- others(233): Show c.98-239130_98-239129insATTATATATATATAATATATATATTA TATATATTATATATAATATATATGTTATATATTATATATATTATATATTA TATATATTATATATAATATATATGTTATATATTATATATATTATATATTA TATATATGTTATATATTATATATATTATATATAATATATATAATATATAA CATATATATTATATAACATATATATTATATATATAATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(207): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0290 a0001c0004t0001g0290	1	292	0.0034	214	c.268 others(233): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921481	T T	TATATATC others(207): Show TATATATCATATATATTCATATATTCATATATATTCATATATATCATATA TATTCATATATTCATATATATTCATATATATTCATATATATTCATATATA TTCATATATTCATATATATTCATATATATTCATATATTCATATATATTCA TATATATTCATATATTCATATATATTCATATATATTCATATATTCATATA TATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03130.hp2 HG03139.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0003 a0002c0004t0001 a0002c0006t0003	a0002c0004t0001g0161 a0002c0006t0003g0163 a0002c0004t0001g0161 a0002c0006t0003g0163	2	182	0.0110	214	c.267 others(231): Show c.267-6422_267-6421insCATATATATTCATATATTCATATATATT CATATATATCATATATATTCATATATTCATATATATTCATATATATTCAT ATATATTCATATATATTCATATATTCATATATATTCATATATATTCATAT ATTCATATATATTCATATATATTCATATATTCATATATATTCATATATAT TCATATATTCATATATATTCATATATATTCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63294179	G G	GGGGGAGT others(207): Show GGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGG GGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGG GGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGC GGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCG GGAGTGTGGGGGAGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	290	0.0035	214	c.-11 others(229): Show c.-11+908_-11+909insAGTGCGGGGGAGGGGAGTGTGGGGGGAGGG GAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGG GAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGG GGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGG GGCTGCCGAGGAGCGGGAGTGTGGGGGAGTGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294179	G G	GGGGGAGT others(207): Show GGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGG GGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGG GGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGC GGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCG GGAGTGTGGGGGAGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0238 a0001c0001t0002g0239	2	290	0.0069	214	c.-11 others(229): Show c.-11+908_-11+909insAGTGCGGGGGAGGGGAGTGTGGGGGGAGGG GAGTGCGGGGGGAGGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGG GAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGG GGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGG GGCTGCCGAGGAGCGGGAGTGTGGGGGAGTGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178294428	C C	CAGCTCCC others(207): Show CAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGA GCTCCCTCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCT CCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCCAGCTCC CTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCT CCCAAATCACTACCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01167.hp2 others(22): Show HG00280.hp1 HG00639.hp2 HG01167.hp2 HG01256.hp2 HG01361.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02109.hp2 HG02615.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 NA18955.hp2 NA18964.hp1 NA18971.hp1 NA18990.hp2 NA19002.hp1 NA19056.hp1 NA19060.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0004c0006 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 a0002c0002t0010 a0002c0003t0002 a0002c0003t0003 a0003c0005t0003 a0004c0006t0003 a0004c0011t0001	a0001c0001t0001g0002 a0001c0001t0002g0058 a0001c0001t0004g0011 others(22): Show a0001c0001t0001g0002 a0001c0001t0002g0058 a0001c0001t0004g0011 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0109 a0001c0001t0005g0078 a0001c0001t0005g0207 a0001c0001t0005g0222 a0001c0004t0001g0070 a0001c0004t0001g0094 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0004g0023 a0002c0002t0001g0052 a0002c0002t0001g0082 a0002c0002t0001g0181 a0002c0002t0010g0228 a0002c0003t0002g0089 a0002c0003t0003g0169 a0003c0005t0003g0127 a0003c0005t0003g0156 a0003c0005t0003g0217 a0004c0006t0003g0172 a0004c0011t0001g0093	25	236	0.1059	214	c.407 others(231): Show c.407-4060_407-4059insCGGTAGTGATTTGGGAGGGAGCTCGGTA GTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTGGGTAGT GATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGA TTTGGGGAGGGAGCTCGGTAGTGATTTGGGAGGGAGCTCGGTAGTGATTT GGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL4A3_chr2_227159624_227319792	227202898	T T	TATATATA others(207): Show TATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATA TATACGTATATATACATATATGTGTATATATACGTATATATACATATATG TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACATATATGTGTATATATGTGTATATATACATATA TGTGTATATATACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18983.hp2 NA19056.hp2 NA18953.hp1 NA18983.hp2 NA19056.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0013c0015t0002 a0001c0001t0001 a0001c0001t0002 a0013c0015t0002	a0001c0001t0001g0020 a0001c0001t0002g0150 a0013c0015t0002g0151 a0001c0001t0001g0020 a0001c0001t0002g0150 a0013c0015t0002g0151	3	344	0.0087	214	c.88- others(231): Show c.88-35064_88-35063insACATATATGTGTATATATGTGTATATAT ACATATATGTGTATATATACGTATATATACATATATGTGTATATATACGT ATATATACATATATGTGTATATATACGTATATATACATATATGTGTATAT ATACGTATATATACATATATGTGTATATATACATATATGTGTATATATGT GTATATATACATATATGTGTATATATACACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ATATGTGT others(207): Show ATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATATGTGT ATACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGT ATATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACAT ATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATATGTGT ATATATACATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18948.hp1 HG00609.hp1 NA18948.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0024 a0004c0003t0004 a0001c0001t0024 a0004c0003t0004	a0001c0001t0024g0290 a0004c0003t0004g0304 a0001c0001t0024g0290 a0004c0003t0004g0304	2	344	0.0058	214	c.88- others(231): Show c.88-34484_88-34483insATGTGTGTATATATGTGTATACATACAT ATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATATGTGT ATACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGT ATATATGTGTATATATACATATATGTGTGTATATATGTGTATATATACAT ATATGTGTGTATATATGTGTATATATACATATATGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129406	T T	TATGTAAT others(207): Show TATGTAATATACATTAGTATATATACACTATATACTAATGTAATATACAT TAGTATATATATACTATATACTAATGTAATATACATTAGTATATATATAC TATATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTA ATATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTAT ATATACTATATACTA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	350	0.0029	214	c.400 others(231): Show c.400-4638_400-4637insCACTATATACTAATGTAATATACATTAG TATATATATACTATATACTAATGTAATATACATTAGTATATATATACTAT ATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATA TACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATA TACTATATACTAATGTAATATACATTAGTATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116129406	T T	TATGTAAT others(207): Show TATGTAATATACATTAGTATATATATACTATATACTAATGTAATATACAT TAGTATATATATACTATATACTAATGTAATATACATTAGTATATATATAC TATATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTA ATATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTAT ATATACTATATACTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01517.hp1 HG02523.hp2 others(17): Show HG00621.hp1 HG01517.hp1 HG02523.hp2 HG02683.hp2 HG04115.hp2 HG04204.hp2 NA18946.hp2 NA18949.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18981.hp2 NA18988.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19006.hp2 NA19066.hp2 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0084 a0001c0001t0001g0200 a0001c0001t0001g0201 others(17): Show a0001c0001t0001g0084 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0346 a0004c0007t0001g0198	20	350	0.0571	214	c.400 others(231): Show c.400-4458_400-4457insCTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAGTATATATATACTATAT ACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATATA CATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATATA TACTATATACTAATGTAATATACATTAGTATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116129424	A A	ATATATAT others(207): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATAT ATACTATATACTAATGTAATATACATTAGTATATATATACTATATACTAA TGTAATATACATTAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	350	0.0029	214	c.400 others(231): Show c.400-4635_400-4422dupCTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAGTATATATATACTATAT ACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATATA CATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATATA TACTATATACTAATGTAATATACATTAGTATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(207): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTG TAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTT TTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03139.hp1 HG01884.hp2 HG02723.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221	3	372	0.0081	214	c.-70 others(223): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCT AATTTTTGTATTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCCGTGTC others(207): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	348	0.0029	214	c.928 others(229): Show c.928-697_928-696insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(207): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATTTCTATAT ATATATATTTCTATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18983.hp2 NA19077.hp1 NA18981.hp2 NA18983.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0277 a0001c0001t0006g0310 a0001c0001t0006g0319 a0001c0001t0006g0277 a0001c0001t0006g0310 a0001c0001t0006g0319	3	370	0.0081	214	c.56 others(225): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATTTCTATATATATATATTTCTATATATATATATTTCTATATATA TATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(207): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATAT ATATATATTTCTATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	370	0.0027	214	c.56 others(225): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATA TATATATTTCTATATATATATATTTCTATATATATATATTTCTATATATA TATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(207): Show ATATATATATATATATTTCTATATATATATATATATATATATTTCTATAT ATATATATATTTCTATATATATATATTTCTATATATATATATATTTCTAT ATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	370	0.0027	214	c.56 others(225): Show c.5645_*5646insTATATATATATATATTTCTATATATATATATATA TATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATA TATATATATTTCTATATATATATATTTCTATATATATATATATTTCTATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar

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