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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BCL11A_chr2_60452194_60558654	60467806	GATGGTAC others(53): Show GATGGTACTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGCTACTGG TGGTGATGGTA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0198 a0001c0001t0009g0198	1	262	0.0038	-60	c.487 others(75): Show c.487+866_487+925delTACCATCACCACCAGTAGCATCACCACCAC CACCACCATCACCATCACCACCAGTACCAT		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(53): Show TTATATATATAAATATATATATATATATGTATATATATATATATATATAT ATATGTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp2 others(2): Show HG00735.hp2 HG01070.hp2 HG01071.hp2 HG03017.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0002 a0001c0002t0003g0174 a0001c0003t0003g0185 a0001c0001t0003g0002 a0001c0002t0003g0174 a0001c0003t0003g0185	5	257	0.0195	-60	c.55 others(71): Show c.5527_*5586delTATATACATATATATATATATATATATATATACA TATATATATATATATTTATATATATA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					4728		chrX	TogoVar
BDKRB2_chr14_96199839_96249164	96242985	AGCTAGAA others(53): Show AGCTAGAACCTGGAGAACTAGAACCTGGAGGGCTAGAACTGGAGAGGCTA GAACCAAGAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02004.hp2 HG02280.hp2 others(8): Show HG01346.hp1 HG02004.hp2 HG02280.hp2 HG02738.hp1 HG02886.hp1 HG03654.hp1 HG03669.hp1 HG04199.hp2 NA19043.hp1 NA20752.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0015 a0001c0001t0019 a0001c0001t0040 others(2): Show a0001c0001t0015 a0001c0001t0019 a0001c0001t0040 a0001c0001t0058 a0004c0005t0039	a0001c0001t0015g0085 a0001c0001t0015g0095 a0001c0001t0015g0216 others(8): Show a0001c0001t0015g0085 a0001c0001t0015g0095 a0001c0001t0015g0216 a0001c0001t0015g0274 a0001c0001t0015g0339 a0001c0001t0019g0219 a0001c0001t0019g0220 a0001c0001t0019g0337 a0001c0001t0040g0271 a0001c0001t0058g0225 a0004c0005t0039g0275	11	436	0.0252	-60	c.14 others(71): Show c.1483_*1542delCTAGAACCTGGAGAACTAGAACCTGGAGGGCTAG AACTGGAGAGGCTAGAACCAAGAAGG		BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	3/3				1483	INFO_REALIGN_3_PRIME	chr14	TogoVar
BEAN1_chr16_66422295_66487833	66474544	AAGAGGGA others(53): Show AAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGG GAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	298	0.0034	-60	c.290 others(77): Show c.290-3003_290-2944delAGAGGGAGGGAGAGAGGGAGGGAGAGAG GGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEND7_chr10_13436088_13534014	13474493	CGATACCC others(53): Show CGATACCCGTCACCGCTGTTGGACTCGGGTCGATACCCGTCACCGCTGTT GGACTCGGGTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0108	1	300	0.0033	-60	c.106 others(79): Show c.1063+6346_1063+6405delAACCCGAGTCCAACAGCGGTGACGGG TATCGACCCGAGTCCAACAGCGGTGACGGGTATC		BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	6/8						chr10	TogoVar
BOP1_chr8_144257045_144296438	144280913	CATACCAG others(53): Show CATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTCTTTGGCCTT CTCTCACTTTA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	398	0.0025	-60	c.310 others(77): Show c.310-4669_310-4610delTAAAGTGAGAGAAGGCCAAAGACCTGGT ATTAAACTGAGAGAAGGCCTAAGACCTGGTAT		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144280986	CGGCCTTC others(53): Show CGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAAT ACCAGGTCTTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 NA19005.hp2 HG02723.hp2 HG02809.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0127 a0001c0001t0001g0216 a0001c0001t0001g0225	3	398	0.0075	-60	c.310 others(77): Show c.310-4742_310-4683delTAAGACCTGGTATTAAAGTGAGAGAAGG CCGAAGACCTGGTATGAAAGTGAGAGAAGGCC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281063	CATACCAG others(53): Show CATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTT CTCTCAGTTTA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	398	0.0025	-60	c.310 others(77): Show c.310-4819_310-4760delTAAACTGAGAGAAGGCCGAAGACCTGGT ATTAAAGTGAGAGAAGGCCGAAGACCTGGTAT		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281089	CTTTAATA others(53): Show CTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTCTTAGG CCTTCTCTCAG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG03239.hp2 others(2): Show HG01496.hp1 HG02698.hp2 HG03239.hp2 NA18979.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0149 a0001c0012t0001g0090	5	398	0.0126	-60	c.310 others(77): Show c.310-4845_310-4786delCTGAGAGAAGGCCTAAGACCTGGTATTA AACTGAGAGAAGGCCGAAGACCTGGTATTAAA		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281114	TCTCAGTT others(53): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(116): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03225.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0005 a0009 others(4): Show a0001 a0005 a0009 a0010 a0011 a0013 a0018	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0005c0009 a0009c0015 a0010c0016 a0011c0017 a0013c0026 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0005c0009t0001 a0009c0015t0001 a0010c0016t0001 a0011c0017t0001 a0013c0026t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0345 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0362 a0001c0001t0001g0368 a0001c0001t0002g0021 a0001c0002t0001g0173 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0006t0001g0165 a0001c0006t0001g0167 a0001c0006t0001g0181 a0001c0008t0001g0372 a0001c0008t0001g0373 a0001c0008t0001g0375 a0001c0011t0001g0138 a0001c0011t0001g0231 a0005c0009t0001g0124 a0005c0009t0001g0148 a0005c0009t0001g0298 a0009c0015t0001g0121 a0010c0016t0001g0115 a0011c0017t0001g0107 a0013c0026t0001g0111 a0018c0023t0001g0139	119	398	0.2990	-60	c.310 others(77): Show c.310-4870_310-4811delGGAAGGCCGAAGACCTGGTATTAAACTG AGAGAAGGCCTAAGACCTGGTATTAAACTGAG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281136	AGGCCTTC others(53): Show AGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCAT ACCAGGTCTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02155.hp2 others(2): Show HG00597.hp1 HG00673.hp2 HG02155.hp2 NA18943.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0027 a0001c0001 a0001c0020 a0001c0027	a0001c0001t0001 a0001c0020t0001 a0001c0027t0001 a0001c0001t0001 a0001c0020t0001 a0001c0027t0001	a0001c0001t0001g0070 a0001c0001t0001g0247 a0001c0001t0001g0293 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0247 a0001c0001t0001g0293 a0001c0020t0001g0129 a0001c0027t0001g0130	5	398	0.0126	-60	c.310 others(77): Show c.310-4892_310-4833delAAAGACCTGGTATGAAAGTGAGGGAAGG CCGAAGACCTGGTATTAAACTGAGAGAAGGCC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281183	CATACCAG others(53): Show CATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19005.hp2 HG01175.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0194 a0001c0001t0001g0127 a0001c0001t0001g0194	2	398	0.0050	-60	c.310 others(77): Show c.310-4939_310-4880delTAAACTGAGGGAAGGCCGAAGACCTGGT ATTAAACTGAGAGAAGGCCAAAGACCTGGTAT		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281444	TCTCAGTT others(53): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTC TTTGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02602.hp2 HG02615.hp1 others(4): Show HG02109.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0216 a0001c0002t0001g0173 a0001c0002t0001g0371 others(4): Show a0001c0001t0001g0216 a0001c0002t0001g0173 a0001c0002t0001g0371 a0001c0003t0001g0162 a0001c0003t0001g0163 a0002c0004t0001g0185 a0002c0004t0001g0186	7	398	0.0176	-60	c.310 others(77): Show c.310-5200_310-5141delGGAAGGCCAAAGACCTGGTATGAAAGTG AGAGAAGGCCGAAGACCTGGTATTAAACTGAG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281479	CTTTCATA others(53): Show CTTTCATACCAGGTCTTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	398	0.0025	-60	c.310 others(77): Show c.310-5235_310-5176delCTGAGGGAAGGCCGAAGACCTGGTATTA AACTGAGGGAAGGCCAAAGACCTGGTATGAAA		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281526	CGGCCTTC others(53): Show CGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCAT ACCAGGTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	398	0.0025	-60	c.310 others(77): Show c.310-5282_310-5223delAAAGACCTGGTATGAAAGTGAGGGAAGG CCGAAGACCTGGTATTAAACTGAGGGAAGGCC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BPIFA3_chr20_33212352_33232806	33222575	GATGGATG others(53): Show GATGGATGGATGGATGGATGGATGGATGGATGAGTGGATGGATGGATGGA TGAGCGGATGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0058 a0012c0017t0001g0058	1	416	0.0024	-60	c.128 others(77): Show c.128-1204_128-1145delAGTGGATGGATGGATGGATGAGCGGATG AATGGATGGATGGATGGATGGATGGATGGATG		BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38314451	ATGATGGT others(53): Show ATGATGGTGATGGTGGGGATGATGATAATGATGGTGATGGTGATGGTGGG GATGATGATGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03579.hp2 HG01891.hp2 HG02055.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0119 a0002c0002t0001g0256 a0002c0002t0001g0052 a0002c0002t0001g0119 a0002c0002t0001g0256	3	426	0.0070	-60	c.600 others(77): Show c.600+2518_600+2577delTGGTGATGGTGGGGATGATGATAATGAT GGTGATGGTGATGGTGGGGATGATGATGGTGA		BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
BRD9_chr5_858741_897801	897741	TCAGTCAG others(53): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	364	0.0028	-60	c.-51 others(71): Show c.-5144_-5085delGCCCTGGGCTTGGCCTGCCAGAGCCCATCCAAAT CCACCTGTTTCCCCACACACTGACTG		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding					4941		chr5	TogoVar
BRINP3_chr1_190092658_190482864	190482318	CATATATA others(53): Show CATATATACACATATATATGTGTATATATATATGCATATATATACACATA TATATGTGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02630.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0165 a0001c0001t0008g0166 a0001c0001t0001g0165 a0001c0001t0008g0166	2	240	0.0083	-60	c.-49 others(71): Show c.-4981_-4922delATACACATATATATGTGTATATATATGCATATAT ATATACACATATATATGTGTATATAT		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding					4455		chr1	TogoVar
BRWD1_chr21_39180482_39318632	39217027	ATATATAT others(53): Show ATATATATAAATATATATATATATTTATATATATATATATATATATATAT ATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02559.hp1 HG02630.hp2 others(7): Show HG01346.hp1 HG02559.hp1 HG02630.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp2 HG06807.hp2 NA20129.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0008 a0004c0003t0017 a0004c0003t0008 a0004c0003t0017	a0004c0003t0008g0026 a0004c0003t0008g0027 a0004c0003t0008g0028 others(7): Show a0004c0003t0008g0026 a0004c0003t0008g0027 a0004c0003t0008g0028 a0004c0003t0008g0029 a0004c0003t0008g0030 a0004c0003t0008g0031 a0004c0003t0008g0032 a0004c0003t0008g0034 a0004c0003t0017g0011 a0004c0003t0017g0012	10	338	0.0296	-60	c.365 others(79): Show c.3659+1065_3659+1124delAAAATATATATATATATATATATATA TATATATATAAATATATATATATATTTATATATA		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar
BTBD19_chr1_44803523_44820585	44816693	CATAGATG others(53): Show CATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTA TATATACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0015 a0001c0001t0007g0051 a0001c0001t0001g0015 a0001c0001t0007g0051	2	436	0.0046	-60	c.29 others(71): Show c.2922_*2981delATAGATGTGTGTGTATATTATATATACACATAGA TGTGTGTGTATATTATATATACACAT		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					1109		chr1	TogoVar
BTRC_chr10_101349165_101562313	101415486	TTTATGTT others(53): Show TTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	266	0.0038	-60	c.49- others(77): Show c.49-14849_49-14790delGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTAT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
C11orf71_chr11_114393532_114405511	114394188	CTTTTCTT others(53): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTC TTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0000 a0001c0001t0012g0000	1	422	0.0024	-60	c.57 others(71): Show c.5712_*5771delAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAA		C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding					4343		chr11	TogoVar
C11orf87_chr11_109417190_109434167	109430813	TGAAATAT others(53): Show TGAAATATTAGCTGTGTATTCTCTTTCTGATTAGTTGTTGAAATCCAATC ACTTCTTCCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	390	0.0026	-60	c.65 others(71): Show c.6587_*6646delGAAATATTAGCTGTGTATTCTCTTTCTGATTAGT TGTTGAAATCCAATCACTTCTTCCCA		C11orf87	ENSG00000185742.7	transcript	ENST00000327419.7	protein_coding					1647		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39712958	CATATACG others(53): Show CATATACGTGTATATGTATATATACATGTGTATATACGTGTATATGTATA TATACATGTGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG02109.hp1 others(6): Show HG01192.hp2 HG01255.hp1 HG02109.hp1 HG02451.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0029 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0225	9	360	0.0250	-60	c.141 others(79): Show c.1412-3751_1412-3692delATATATACATGTGTATATACGTGTAT ATGTATATATACATGTGTATATACGTGTATATGT		C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
C16orf96_chr16_4551340_4605758	4575941	GGTCCCCA others(53): Show GGTCCCCAAAGATAGAGGTGGCAAGGATGTGGACCCCAAGGATAGAGCTC ACAAGGATGAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG01175.hp2 HG01243.hp2 others(1): Show HG00642.hp2 HG01175.hp2 HG01243.hp2 HG02572.hp2	a0013 a0016 a0019 others(1): Show a0013 a0016 a0019 a0020	a0013c0019 a0016c0021 a0019c0026 others(1): Show a0013c0019 a0016c0021 a0019c0026 a0020c0025	a0013c0019t0005 a0016c0021t0008 a0019c0026t0005 others(1): Show a0013c0019t0005 a0016c0021t0008 a0019c0026t0005 a0020c0025t0022	a0013c0019t0005g0269 a0016c0021t0008g0268 a0019c0026t0005g0176 others(1): Show a0013c0019t0005g0269 a0016c0021t0008g0268 a0019c0026t0005g0176 a0020c0025t0022g0173	4	278	0.0144	-60	c.154 others(69): Show c.1545_1604delGGATGTGGACCCCAAGGATAGAGCTCACAAGGATGA TGTCCCCAAAGATAGAGGTGGCAA	p.Asp others(13): Show p.Asp516_Lys535del	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	5/16	1695/4017	1545/3426	515/1141		INFO_REALIGN_3_PRIME	chr16	TogoVar
C19orf38_chr19_10843415_10874790	10871580	GGTAGCGG others(53): Show GGTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	384	0.0026	-60	c.22 others(71): Show c.2214_*2273delGTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCA		C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding					1791		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1077103	GCTACGGG others(53): Show GCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGG GGTGGCTGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	326	0.0031	-60	c.57 others(71): Show c.5730_*5789delACTCAGCCACCCCTCACGGAGTCCCCGTAGACTC AGCCTCCCCGCACGGAGTCCCCGTAG		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4719		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077511	GGGGAGGC others(53): Show GGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGG GACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	326	0.0031	-60	c.53 others(71): Show c.5322_*5381delGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCA CGGAGTCCCCATAGACTCAGCCTCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4311		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077571	CGGGAGGC others(53): Show CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	326	0.0031	-60	c.52 others(71): Show c.5262_*5321delCCAACGGAGTCCCCATAGACTCAGCCTCCCGGCA CGGAGTCCCCATAGACTCAGCCTCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4251		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077601	CGGGAGGC others(53): Show CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA18947.hp2 NA18999.hp1 HG02630.hp2 NA18947.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0239 a0001c0002t0002g0248 a0001c0002t0002g0257 a0001c0001t0002g0239 a0001c0002t0002g0248 a0001c0002t0002g0257	3	326	0.0092	-60	c.52 others(71): Show c.5232_*5291delCCAACGGAGTCCCCATAGCCTCAGCCTCCCCCAA CGGAGTCCCCATAGACTCAGCCTCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4221		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077809	GGGGGGAG others(53): Show GGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTACG GGGACTCCGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA18999.hp2 HG02735.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0220 a0001c0001t0001g0180 a0001c0001t0001g0220	2	326	0.0061	-60	c.50 others(71): Show c.5024_*5083delAACGGAGTCCCCGTAGCCTCAGCCTCCCCGCACG GAGTCCCCGTAGCCTCAGCCTCCCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4013		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078235	AGGCTGAG others(53): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGACT CCGTGAGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	326	0.0031	-60	c.45 others(71): Show c.4598_*4657delACCCCTCACGGAGTCCCCATAGACGCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3587		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1079101	GGGGAGGC others(53): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0131 a0001c0002t0005g0131	1	326	0.0031	-60	c.37 others(71): Show c.3732_*3791delGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					2721		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1079131	CGGGAGGC others(53): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	326	0.0031	-60	c.37 others(71): Show c.3702_*3761delCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					2691		chr1	TogoVar
C2CD4C_chr19_400445_414147	404255	GGGGACGG others(53): Show GGGGACGGGTCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCC TGAGGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02976.hp1 NA19066.hp1 HG01891.hp2 HG02976.hp1 NA19066.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0015 a0001c0001 a0001c0002 a0008c0015	a0001c0001t0004 a0001c0002t0126 a0008c0015t0009 a0001c0001t0004 a0001c0002t0126 a0008c0015t0009	a0001c0001t0004g0013 a0001c0002t0126g0137 a0008c0015t0009g0143 a0001c0001t0004g0013 a0001c0002t0126g0137 a0008c0015t0009g0143	3	322	0.0093	-60	c.27 others(71): Show c.2781_*2840delACACCCCCTCAGGGCAGGACCCCGTCCCCCCCTC AGACCCCTCAGGACAGGACCCGTCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1189		chr19	TogoVar
C2CD4C_chr19_400445_414147	404577	GGACGGGG others(53): Show GGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTG AGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG02976.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0118 a0001c0001t0031 a0001c0001t0118	a0001c0001t0031g0027 a0001c0001t0118g0096 a0001c0001t0031g0027 a0001c0001t0118g0096	2	322	0.0062	-60	c.24 others(71): Show c.2459_*2518delTCCACACCCCTCAGGGCAGGACCCGTCTCCCCCT CAGACCCCTCAGGGCAGGACCCCGTC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					867		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13376640	TATATGAT others(53): Show TATATGATACACTACACATAATATATGTTATATATGATACACTACACATA ATATATGTTAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0007 a0001c0038t0007	a0001c0038t0007g0205 a0001c0038t0007g0205	1	218	0.0046	-60	c.540 others(77): Show c.540-4921_540-4862delGTAACATATATTATGTGTAGTGTATCAT ATATAACATATATTATGTGTAGTGTATCATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137923217	GTGGTGCC others(53): Show GTGGTGCCAGGTGGTATTCCATGGTGCCAGGTGGTATTCCGTGGTGCCAG GTGGTATTCCA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	-60	c.966 others(77): Show c.966+5818_966+5877delGGTATTCCGTGGTGCCAGGTGGTATTCC ATGGTGCCAGGTGGTATTCCATGGTGCCAGGT		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138126885	CCCCCGGC others(53): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18948.hp1 NA18960.hp2 others(1): Show HG00738.hp1 NA18948.hp1 NA18960.hp2 NA19002.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0015 a0002c0008 a0003c0006 others(1): Show a0001c0015 a0002c0008 a0003c0006 a0014c0031	a0001c0015t0002 a0002c0008t0003 a0003c0006t0002 others(1): Show a0001c0015t0002 a0002c0008t0003 a0003c0006t0002 a0014c0031t0002	a0001c0015t0002g0102 a0002c0008t0003g0219 a0003c0006t0002g0153 others(1): Show a0001c0015t0002g0102 a0002c0008t0003g0219 a0003c0006t0002g0153 a0014c0031t0002g0113	4	248	0.0161	-60	c.48 others(71): Show c.4887_*4946delCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTG		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding					2267		chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2438206	ATGGTGGT others(53): Show ATGGTGGTGGTGGTGGTGGTTGTGATGGTGGGGATGGTGATGATAATGAT GGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	104	0.0096	-60	c.478 others(79): Show c.478-10762_478-10703delGGTGGTGGTGGTTGTGATGGTGGGGA TGGTGATGATAATGATGGTGATGGTGGTGGTGGT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA2D3_chr3_54117552_55079557	54888687	TTAGTTCA others(53): Show TTAGTTCATTCCCTCATTGTATCTTCCCTTCTATCCTGTTTCTCTCCATT TTTCTATTCAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG03130.hp2 others(1): Show HG02280.hp2 HG02615.hp1 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0021 others(1): Show a0001c0002 a0001c0007 a0001c0021 a0001c0034	a0001c0002t0001 a0001c0007t0001 a0001c0021t0002 others(1): Show a0001c0002t0001 a0001c0007t0001 a0001c0021t0002 a0001c0034t0001	a0001c0002t0001g0020 a0001c0007t0001g0067 a0001c0021t0002g0023 others(1): Show a0001c0002t0001g0020 a0001c0007t0001g0067 a0001c0021t0002g0023 a0001c0034t0001g0086	4	118	0.0339	-60	c.215 others(77): Show c.2150+666_2150+725delTATCCTGTTTCTCTCCATTTTTCTATTC AATAGTTCATTCCCTCATTGTATCTTCCCTTC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	24/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18442940	ATGTGTAT others(53): Show ATGTGTATATATATATATGTATATATATATGTGTATATATATATATGTAT ATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0175 a0002c0003t0013g0175	1	200	0.0050	-60	c.333 others(79): Show c.333+40899_333+40958delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATATATATATGTGT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442940	ATGTGTAT others(53): Show ATGTGTATATATATATATGTATATATATATGTGTATATATATATATGTAT ATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0029 a0002c0003t0013g0029	1	302	0.0033	-60	c.171 others(79): Show c.171+40899_171+40958delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATATATATATGTGT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CALML5_chr10_5493697_5504570	5503941	GCACACCA others(53): Show GCACACCACACACCTCCCCTACACACCACACACCTCCCCTGCACACCGCG CACCTCCCCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(60): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01934.hp2 HG02083.hp1 HG02300.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18961.hp1 NA18964.hp1 NA18979.hp2 NA18983.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0002c0002t0001g0000 a0003c0003t0001g0000	63	444	0.1419	-60	c.-45 others(71): Show c.-4563_-4504delTAGGGGAGGTGCGCGGTGTGCAGGGGAGGTGTGT GGTGTGTAGGGGAGGTGTGTGGTGTG		CALML5	ENSG00000178372.8	transcript	ENST00000380332.5	protein_coding					4372		chr10	TogoVar
CALN1_chr7_71774491_72417338	72106689	CAAGGGAG others(53): Show CAAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGG AGGGAGGAAGG	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0090 a0001c0001t0012g0008 a0001c0001t0002g0090 a0001c0001t0012g0008	2	142	0.0141	-60	c.245 others(75): Show c.245-455_245-396delCCTTCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCCCTT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12623175	CCCTCCCT others(53): Show CCCTCCCTCCGTCCCTCCGTCCCTCCCTCCTTTCTTTCCTCCCTCCCTCC CTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	214	0.0047	-60	c.225 others(79): Show c.225-43553_225-43494delCCGTCCCTCCGTCCCTCCCTCCTTTC TTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827464	GTCTGTCT others(53): Show GTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG03195.hp2 HG02109.hp1 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0108 a0001c0001t0109 a0001c0001t0056 a0001c0001t0108 a0001c0001t0109	a0001c0001t0056g0154 a0001c0001t0108g0020 a0001c0001t0109g0161 a0001c0001t0056g0154 a0001c0001t0108g0020 a0001c0001t0109g0161	3	214	0.0140	-60	c.104 others(79): Show c.1040-1301_1040-1242delGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121301304	TTTTTTTT others(53): Show TTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGCTGCCTGGTCTCAC AGTTGCAATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	330	0.0030	-60	c.-47 others(71): Show c.-4786_-4727delGAATTGCAACTGTGAGACCAGGCAGCAAGAGCAA AACTCCGTCTCAAAAAAAAAAAAAAA		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding					4596		chr12	TogoVar
CAPN10_chr2_240581734_240604104	240590567	AAGAGTTC others(53): Show AAGAGTTCTCTGCGACATCCAGGTGTGCCGTAGAGTTCTCTGCGACATCC AGGTGTGCCGT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	412	0.0024	-60	c.274 others(75): Show c.274-190_274-131delCGTAGAGTTCTCTGCGACATCCAGGTGTGC CGTAGAGTTCTCTGCGACATCCAGGTGTGC		CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr2	TogoVar

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