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
RELCH_chr18_62182255_62315249	62312317	T T	TAGACATC others(41): Show TAGACATCCCTGAAAGTCCCCCAAACTCATACTTGAGTTTGCTAAGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0187 a0001c0001t0025g0187	1	340	0.0029	48	c.67 others(59): Show c.6783_*6784insAGACATCCCTGAAAGTCCCCCAAACTCATACTTG AGTTTGCTAAGACC	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding		2069		chr18	TogoVar
REM1_chr20_31470288_31489895	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(106): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG02040.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG04228.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18965.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp2 NA18997.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19059.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp2 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0011	a0002c0002 a0002c0003 a0005c0006 others(2): Show a0002c0002 a0002c0003 a0005c0006 a0009c0012 a0011c0010	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0005c0006t0002 a0009c0012t0001 a0011c0010t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0011 others(45): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0084 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0003g0087 a0002c0002t0004g0039 a0002c0002t0004g0093 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0017 a0002c0003t0001g0024 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0054 a0002c0003t0001g0057 a0002c0003t0001g0109 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0009 a0002c0003t0002g0016 a0002c0003t0002g0058 a0002c0003t0006g0006 a0005c0006t0002g0026 a0009c0012t0001g0053 a0011c0010t0001g0009	109	344	0.3169	48	c.-49 others(59): Show c.-4976_-4975insCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4677		chr20	TogoVar
REM1_chr20_31470288_31489895	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02896.hp2 others(1): Show HG01891.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	4	344	0.0116	48	c.-49 others(59): Show c.-4976_-4975insCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGTGGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4677		chr20	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(41): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	166	0.0060	48	c.908 others(65): Show c.908-2238_908-2237insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8501886	G G	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	204	0.0049	48	c.880 others(65): Show c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	300	0.0033	48	c.62- others(65): Show c.62-40067_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01257.hp1 HG01258.hp1 others(19): Show HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02965.hp1 HG03516.hp2 HG03654.hp1 NA18941.hp2 NA18956.hp2 NA18965.hp2 NA19006.hp2 NA19009.hp1 NA19075.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003	a0001c0001t0004 a0001c0009t0008 a0002c0002t0001 others(3): Show a0001c0001t0004 a0001c0009t0008 a0002c0002t0001 a0002c0002t0029 a0002c0002t0034 a0003c0003t0002	a0001c0001t0004g0005 a0001c0001t0004g0016 a0001c0001t0004g0074 others(18): Show a0001c0001t0004g0005 a0001c0001t0004g0016 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0085 a0001c0009t0008g0089 a0002c0002t0001g0012 a0002c0002t0001g0209 a0002c0002t0001g0302 a0002c0002t0029g0047 a0002c0002t0034g0301 a0003c0003t0002g0001 a0003c0003t0002g0007 a0003c0003t0002g0031 a0003c0003t0002g0059 a0003c0003t0002g0115 a0003c0003t0002g0122 a0003c0003t0002g0125 a0003c0003t0002g0127 a0003c0003t0002g0135 a0003c0003t0002g0136	22	408	0.0539	48	c.-28 others(59): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	276	0.0036	48	c.332 others(65): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFK_chr9_76380526_76399426	76394542	A A	AGCCCCGC others(41): Show AGCCCCGCCCCATCATGGCCCCGCCCCATCATGGCCCCGCCCCATCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	48	c.-37 others(57): Show c.-372_-371insCATGATGGGGCGGGGCCATGATGGGGCGGGGCCATG ATGGGGCGGGGC	RFK	ENSG00000135002.12	transcript	ENST00000376736.6	protein_coding		117		chr9	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0018 a0001c0001t0002 a0003c0006t0018	a0001c0001t0002g0036 a0003c0006t0018g0032 a0001c0001t0002g0036 a0003c0006t0018g0032	2	388	0.0052	48	c.207 others(63): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320267	T T	TAGGTGGG others(41): Show TAGGTGGGATGACCTCTTTAGGGGTAGGTGGGATGACCTCTTTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04199.hp1 HG02602.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0007 a0001c0002t0010	a0001c0002t0007g0219 a0001c0002t0010g0152 a0001c0002t0007g0219 a0001c0002t0010g0152	2	388	0.0052	48	c.57 others(59): Show c.5742_*5743insAGGTGGGATGACCTCTTTAGGGGTAGGTGGGATG ACCTCTTTGGGGGC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4244		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(41): Show TATATATATATATATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18955.hp1 NA18949.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0263 a0001c0001t0001g0163 a0001c0001t0001g0263	2	268	0.0075	48	c.333 others(65): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(41): Show TATATATATATATATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 NA18950.hp1 others(4): Show HG02735.hp1 HG02735.hp2 NA18950.hp1 NA18964.hp1 NA18984.hp2 NA19084.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0048 a0001c0001t0001g0153 a0001c0001t0001g0155 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0183 a0001c0001t0001g0190 a0002c0003t0003g0246	7	268	0.0261	48	c.333 others(65): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(41): Show TATATATATATATATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01256.hp2 HG03710.hp2 others(1): Show HG01069.hp2 HG01256.hp2 HG03710.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0002t0002g0254 others(1): Show a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0002t0002g0254 a0001c0002t0002g0264	4	268	0.0149	48	c.333 others(65): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFWD3_chr16_74616399_74671877	74666819	C C	CCCGCCGA others(41): Show CCCGCCGAAGACTCGGTAGTTACCTCCGCCGAAGACTCGGTAGTTACCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp2 others(109): Show HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01261.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20905.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0009 a0010 a0013	a0001c0002 a0001c0004 a0001c0011 others(6): Show a0001c0002 a0001c0004 a0001c0011 a0002c0001 a0006c0007 a0007c0015 a0009c0010 a0010c0012 a0013c0016	a0001c0002t0002 a0001c0002t0013 a0001c0002t0016 others(18): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0016 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0056 a0001c0004t0009 a0001c0004t0017 a0001c0011t0002 a0002c0001t0002 a0006c0007t0002 a0007c0015t0002 a0009c0010t0002 a0010c0012t0009 a0013c0016t0037	a0001c0002t0002g0004 a0001c0002t0002g0012 a0001c0002t0002g0014 others(98): Show a0001c0002t0002g0004 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0013g0152 a0001c0002t0013g0153 a0001c0002t0013g0166 a0001c0002t0016g0216 a0001c0002t0016g0217 a0001c0002t0029g0168 a0001c0002t0030g0192 a0001c0002t0031g0206 a0001c0002t0032g0201 a0001c0002t0033g0227 a0001c0002t0034g0173 a0001c0002t0035g0199 a0001c0002t0036g0231 a0001c0002t0056g0386 a0001c0004t0009g0176 a0001c0004t0009g0184 a0001c0004t0009g0185 a0001c0004t0009g0186 a0001c0004t0009g0187 a0001c0004t0017g0013 a0001c0011t0002g0215 a0002c0001t0002g0003 a0002c0001t0002g0009 a0002c0001t0002g0010 a0002c0001t0002g0011 a0002c0001t0002g0151 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0157 a0002c0001t0002g0158 a0002c0001t0002g0159 a0002c0001t0002g0160 a0002c0001t0002g0161 a0002c0001t0002g0162 a0002c0001t0002g0163 a0002c0001t0002g0164 a0002c0001t0002g0165 a0002c0001t0002g0167 a0002c0001t0002g0174 a0002c0001t0002g0182 a0002c0001t0002g0223 a0006c0007t0002g0169 a0006c0007t0002g0170 a0007c0015t0002g0238 a0009c0010t0002g0193 a0010c0012t0009g0221 a0013c0016t0037g0154	112	412	0.2718	48	c.-37 others(55): Show c.-37_-36insAGGTAACTACCGAGTCTTCGGCGGAGGTAACTACCGAG TCTTCGGCGG	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/13	5371		chr16	TogoVar
RFWD3_chr16_74616399_74671877	74666844	C C	CCGCCGAA others(41): Show CCGCCGAAGACTCGGTAGTTACCTCCGCCGAAGACTCGGTAGTTACCTA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0385 a0001c0002t0055g0385	1	412	0.0024	48	c.-62 others(55): Show c.-62_-61insTAGGTAACTACCGAGTCTTCGGCGGAGGTAACTACCGA GTCTTCGGCG	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/13	5396		chr16	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0179 a0001c0001t0058g0179	1	196	0.0051	48	c.118 others(67): Show c.118-19930_118-19929insAAAGAAAGAAAGAAAGAAAGAGAGAA AGAAAGAAAGAAAGAAAGAAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	196	0.0051	48	c.118 others(67): Show c.118-19977_118-19930dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0294 a0007c0013t0001g0294	1	360	0.0028	48	c.401 others(65): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATATATATATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGL3_chr19_11389060_11424314	11414233	A A	ATATATAT others(41): Show ATATATATATATACCTTTATATATATATACCTTTATATATATATACCTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0297 a0003c0008t0001g0297	1	402	0.0025	48	c.637 others(65): Show c.637+1703_637+1704insAAGGTATATATATATAAAGGTATATATA TATAAAGGTATATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414502	T T	TATATATA others(41): Show TATATATATATACACCTTCATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00621.hp2 others(1): Show HG00544.hp1 HG00621.hp1 HG00621.hp2 NA19079.hp1	a0003 a0018 a0003 a0018	a0003c0008 a0018c0026 a0003c0008 a0018c0026	a0003c0008t0001 a0018c0026t0001 a0003c0008t0001 a0018c0026t0001	a0003c0008t0001g0002 a0003c0008t0001g0377 a0018c0026t0001g0315 a0003c0008t0001g0002 a0003c0008t0001g0377 a0018c0026t0001g0315	4	402	0.0100	48	c.637 others(65): Show c.637+1434_637+1435insGAAGGTGTATATATATATATATATATAT ATGAAGGTGTATATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414504	T T	TATATATA others(41): Show TATATATATACACCTTCATATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18997.hp1 NA18986.hp1 NA18997.hp1	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0001 a0006c0010t0001 a0006c0009t0001 a0006c0010t0001	a0006c0009t0001g0270 a0006c0010t0001g0245 a0006c0009t0001g0270 a0006c0010t0001g0245	2	402	0.0050	48	c.637 others(65): Show c.637+1432_637+1433insGAAGGTGTATATATATATATATATATAT ATATGAAGGTGTATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(41): Show ATATATATACACCTTCATATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19002.hp2 HG00609.hp1 NA19002.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0209 a0002c0007t0001g0217 a0002c0007t0001g0209 a0002c0007t0001g0217	2	402	0.0050	48	c.637 others(65): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TATATGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(41): Show ATATATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	402	0.0025	48	c.637 others(65): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGMA_chr15_93030271_93094211	93033475	G G	GAGGTGGG others(41): Show GAGGTGGGGAGGTGGGGAGGTGGGGAGGTGGGGAGGTGGAGAGGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0057 a0001c0002t0018 a0001c0002t0057	a0001c0002t0018g0369 a0001c0002t0057g0014 a0001c0002t0018g0369 a0001c0002t0057g0014	2	414	0.0048	48	c.11 others(61): Show c.11522_*11523insTCCCACCTCTCCACCTCCCCACCTCCCCACCT CCCCACCTCCCCACCT	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding		1795		chr15	TogoVar
RGS14_chr5_177352924_177377596	177369867	C C	CCCACACT others(41): Show CCCACACTCCACCTGCTCCTGCAGCACAGCATAAGCCTACTGCCTGGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	418	0.0024	48	c.105 others(65): Show c.1054-723_1054-676dupCCACACTCCACCTGCTCCTGCAGCACAG CATAAGCCTACTGCCTGGGA	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS22_chr8_99955936_100111049	100059414	T T	TACAAACT others(41): Show TACAAACTAAAAATAAAGGGATGGAAAAACATGTTCCATGTCAATGGAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	310	0.0032	48	c.151 others(67): Show c.1514+3129_1514+3176dupTTCCATTGACATGGAACATGTTTTTC CATCCCTTTATTTTTAGTTTGT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS6_chr14_71927429_72571530	71936028	A A	ATATATAT others(41): Show ATATATATGTATATGTATATATATATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0128 a0001c0001t0013g0128	1	130	0.0077	48	c.-21 others(65): Show c.-21+3094_-21+3095insGTATATGTATATATATATATATGTATAT ATATATATATATGTATATAT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72053045	C C	CTCCCTCC others(41): Show CTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02622.hp2 others(4): Show HG01243.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0114 a0001c0001t0005g0056 a0001c0001t0006g0116 others(4): Show a0001c0001t0001g0114 a0001c0001t0005g0056 a0001c0001t0006g0116 a0001c0001t0014g0029 a0001c0001t0016g0126 a0001c0001t0021g0110 a0001c0001t0028g0086	7	130	0.0539	48	c.84+ others(65): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCTCCCTCCCTTCCCTCCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72526583	A A	AGGATCAT others(41): Show AGGATCATTTACTCTCACATCCTCTTATGACCTGGAATGATGCCTTATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02922.hp1 others(5): Show HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0005 a0001c0001t0005g0001 a0001c0001t0005g0108 others(5): Show a0001c0001t0001g0005 a0001c0001t0005g0001 a0001c0001t0005g0108 a0001c0001t0009g0008 a0001c0001t0009g0113 a0001c0001t0009g0115 a0001c0001t0014g0002 a0001c0001t0014g0057	8	130	0.0615	48	c.127 others(67): Show c.1278+8047_1278+8094dupGGATCATTTACTCTCACATCCTCTTA TGACCTGGAATGATGCCTTATG	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	112	0.0089	48	c.175 others(67): Show c.175+30427_175+30428insTATATATATATATACATATATATATA TATATATACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	112	0.0089	48	c.175 others(67): Show c.175+30427_175+30428insTATATATATATATATATATATATATA CACACACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	112	0.0089	48	c.175 others(67): Show c.175+30427_175+30428insTATATATATATATATATATATATACA CACACACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	112	0.0089	48	c.78+ others(65): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03688.hp1 HG03688.hp2 HG03098.hp1 HG03688.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0003g0015 a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0003g0015	3	112	0.0268	48	c.78+ others(65): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	112	0.0089	48	c.78+ others(65): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDF2_chr17_76465896_76506423	76480051	G G	GTGTGTAT others(41): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0138	1	364	0.0028	48	c.151 others(63): Show c.151-198_151-197insTATATATATATATATATATATATATATATA TATATATATATATACACA	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding	3/18			chr17	TogoVar
RHCG_chr15_89466407_89501583	89479123	A A	AAAAAAAA others(41): Show AAAAAAAAAAACAAGATAAAGAATTCTCAAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	360	0.0056	48	c.837 others(63): Show c.837+198_837+199insGTTTTGTTTTGTTTTGTTTTTGAGAATTCT TTATCTTGTTTTTTTTTT	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	5/10			chr15	TogoVar
RHOXF1_chrX_120104051_120120913	120112406	T T	TACATATA others(41): Show TACATATATGTATTATATATAATACACATATGTGTATTATATATAATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG02818.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	320	0.0063	48	c.444 others(63): Show c.444+462_444+463insGTATTATATATAATACACATATGTGTATTA TATATAATACATATATGT	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding	2/2			chrX	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	404	0.0025	48	c.48 others(59): Show c.4807_*4808insCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RIC8B_chr12_106769682_106894316	106785785	G G	GTCTCTCT others(41): Show GTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0308 a0001c0002t0009g0308	1	318	0.0031	48	c.132 others(65): Show c.132+1761_132+1762insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646142	A A	ACCACCTC others(41): Show ACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0001 a0017c0037t0001	a0017c0037t0001g0002 a0017c0037t0001g0002	1	180	0.0056	48	c.-35 others(69): Show c.-351-17687_-351-17686insAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646166	A A	ATCACCTC others(41): Show ATCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0070 a0001c0008t0001g0070	1	180	0.0056	48	c.-35 others(69): Show c.-351-17711_-351-17710insAGAGGGAGGTGGTGAGGGAGGTGG AGAGGGAGGTGGTGAGGGAGGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646238	T T	TCCACCTC others(41): Show TCCACCTCCCTCACCACTTCCCTCACCACCTCCCTCACCACTTCCCTCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0012 a0002c0029t0001g0012	1	180	0.0056	48	c.-35 others(69): Show c.-351-17783_-351-17782insTGAGGGAAGTGGTGAGGGAGGTGG TGAGGGAAGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646291	C C	CTCCCTCA others(41): Show CTCCCTCACCACTTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0101 a0001c0022t0001g0101	1	180	0.0056	48	c.-35 others(69): Show c.-351-17836_-351-17835insAGTGGTGAGGGAGGTGGAGAGGCA GGTGGTGAGGGAAGTGGTGAGGGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646401	G G	GCCTCATC others(41): Show GCCTCATCACCTCCCTCACCACCTGCCTCGCCACCTCCCTCACCACCTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0081 a0001c0006t0001g0081	1	180	0.0056	48	c.-35 others(69): Show c.-351-17946_-351-17945insGAGGTGGTGAGGGAGGTGGCGAGG CAGGTGGTGAGGGAGGTGATGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646443	C C	CCACTTCC others(41): Show CCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	180	0.0056	48	c.-35 others(69): Show c.-351-17988_-351-17987insATGAGGGAGGTGGCGAGGGAGGTG GAGAGGGAGGTGGAGAGGGAAGTG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646445	A A	ACCTCCCT others(41): Show ACCTCCCTCACCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCACCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0140 a0001c0020t0001g0140	1	180	0.0056	48	c.-35 others(69): Show c.-351-17990_-351-17989insCGGTGAGGGAGGTGGAGAGGGAGG TGGCGAGGGAGGTGGTGAGGGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130647998	C C	CACACACG others(41): Show CACACACGTGTGCACACACATGTGAACACACGTGTGCACACACATGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0087 a0001c0002t0001g0088	2	180	0.0111	48	c.-35 others(69): Show c.-351-19543_-351-19542insTCACATGTGTGTGCACACGTGTGT TCACATGTGTGTGCACACGTGTGT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713189	A A	AGAAGGAA others(41): Show AGAAGGAAGGAAGGAAGGAAGGAAGATAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp2 NA18906.hp1 HG02258.hp1 HG03471.hp2 NA18906.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0020 a0002c0034 a0005c0013 a0001c0020 a0002c0034 a0005c0013	a0001c0020t0001 a0002c0034t0003 a0005c0013t0003 a0001c0020t0001 a0002c0034t0003 a0005c0013t0003	a0001c0020t0001g0140 a0002c0034t0003g0139 a0005c0013t0003g0141 a0001c0020t0001g0140 a0002c0034t0003g0139 a0005c0013t0003g0141	3	180	0.0167	48	c.-35 others(67): Show c.-352+3032_-352+3033insCTTCCTTCCTTCCTTCCTTCCTATCT TCCTTCCTTCCTTCCTTCCTTC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar

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